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Richard Smith

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Michael S Hildebrand; Ingrid E Scheffer; Richard J H Smith; Hans-Henrik M Dahl; John Anthony Damiano; Samuel F Berkovic
Recent advances in the molecular genetics of epilepsy.
Amret Hawfield; Samy S Iskandar; Richard J H Smith
Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.
Kyle R Taylor; V Nikhil Anand; E Ann Black-Ziegelbein; Terry A Braun; Adam P Deluca; Robert W Eppsteiner; Michael S Hildebrand; Patrick L M Huygen; Todd E Scheetz; A Eliot Shearer; Christina M Sloan; Richard J H Smith; Thomas L Casavant
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

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2013: Michael S Hildebrand; Ingrid E Scheffer; Richard J H Smith; Hans-Henrik M Dahl; John Anthony Damiano; Samuel F Berkovic
Recent advances in the molecular genetics of epilepsy.
Journal of medical genetics 2013;50(5):271-9.
2013: Amret Hawfield; Samy S Iskandar; Richard J H Smith
Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2013;61(5):828-31.
2013: Kyle R Taylor; V Nikhil Anand; E Ann Black-Ziegelbein; Terry A Braun; Adam P Deluca; Robert W Eppsteiner; Michael S Hildebrand; Patrick L M Huygen; Todd E Scheetz; A Eliot Shearer; Christina M Sloan; Richard J H Smith; Thomas L Casavant
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Human mutation 2013;34(4):539-45.
2013: Leah R Reznikov; Richard J H Smith; David A Stoltz; Jeng-Haur Chen; Qian Dong; Jianyang Du; Michael S Hildebrand; Thomas O Moninger; Jung Min Park; Christoph O Randak; Yuzhou Zhang; Michael J Welsh
CFTR-deficient pigs display peripheral nervous system defects at birth.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(8):3083-8.
2013: Sanjeev Sethi; Ladan Zand; Yuzhou Zhang; Nicolò Borsa; Fernando C Fervenza; Nicole C Meyer; Samih H Nasr; Richard J H Smith
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement.
Kidney international 2013;83(2):293-9.
2012: Deborah S F Kacmarynski; Joseph M Reinhardt; Richard Amendola; Richard J H Smith
Flexible models for planning repair of complex tracheal anomalies.
The Laryngoscope 2012;122 Suppl 4():S77.
2012: A Eliot Shearer; Richard J H Smith
Genetics: advances in genetic testing for deafness.
Current opinion in pediatrics 2012;24(6):679-86.
2012: Robert W Eppsteiner; Michael S Hildebrand; Patrick Huygen; Todd E Scheetz; Steve Scherer; A Eliot Shearer; Terry A Braun; Thomas L Casavant; Adam P Deluca; Kyle R Taylor; Richard J H Smith
Using the phenome and genome to improve genetic diagnosis for deafness.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2012;147(5):975-7.
2012: Francesca Crovetto; Massimo Cugno; Barbara Acaia; Gianluigi Ardissino; Nicolò Borsa; Pierangela Castorina; Kathy Frees; Carla Nishimura; Roberta Palla; Flora Peyvandi; Richard J H Smith; Edgardo Somigliana; Silvana Tedeschi; Luigi Fedele
The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012;25(11):2322-5.
2012: Robert W Eppsteiner; Bruce J Gantz; Marlan R Hansen; Michael S Hildebrand; Haihong Ji; Todd E Scheetz; Steven E Scherer; A Eliot Shearer; Elizabeth A Black-Ziegelbein; Terry A Braun; Thomas L Casavant; Adam P Deluca; Camille C Dunn; Richard J H Smith
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Hearing research 2012;292(1-2):51-8.
2012: Mojgan Babanejad; Niloofar Bazazzadegan; Zohreh Fattahi; Farkhonde Habibi; Peyman Jamali; Kimia Kahrizi; Nicole Meyer; Amin Najmabadi; Nooshin Nikzat; Carla Nishimura; Richard J H Smith; Elahe Sohrabi; Hossein Najmabadi
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
American journal of medical genetics. Part A 2012;158A(10):2485-92.
2012: Zohreh Fattahi; Khadijeh Jalalvand; Kimia Kahrizi; Rezvan Abtahi; Seyed Navid Almadani; Sanaz Arzhangi; Batool Azadeh; Mojgan Babanejad; Niloofar Bazazzadegan; Fatemehsadat Esteghamat; Nooshin Nikzat; A Eliot Shearer; Richard J H Smith; Hossein Najmabadi
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
American journal of medical genetics. Part A 2012;158A(8):1857-64.
2012: Niloofar Bazazzadegan; Zohreh Fattahi; Haleh Habibi; Payman Jamali; Kimia Kahrizi; Atie Kashef; Atefeh Khoshaeen; Nicole Meyer; Faezeh Mojahedi; Nooshin Nikzat; Carla Nishimura; Narges Nouri; Farahnaz Reyhanifar; Farahnaz Sabbagh Kermani; Shima Sahraian; Richard J H Smith; Maryam Taghdiri; Hilda Yazdan; Batool Azadeh; Mojgan Babanejad; Hossein Najmabadi
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
International journal of pediatric otorhinolaryngology 2012;76(8):1164-74.
2012: Sanjeev Sethi; Ahmet Dogan; Fernando C Fervenza; Samih H Nasr; Jason D Theis; Julie A Vrana; Ladan Zand; Yuzhou Zhang; Richard J H Smith
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up.
Kidney international 2012;82(4):465-73.
2012: Sanjeev Sethi; Fernando C Fervenza; Yuzhou Zhang; Richard J H Smith
Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2012;60(2):316-21.
2012: Fernando C Fervenza; Richard J H Smith; Sanjeev Sethi
Association of a novel complement factor H mutation with severe crescentic and necrotizing glomerulonephritis.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2012;60(1):126-32.
2012: Isabelle Schrauwen; Richard J H Smith; Charlotte Claes; Megan Ealy; Erik Fransen; Alex Huber; Ayda Khalfallah; Saber Masmoudi; Laura Rodriguez Murillo; Guy Van Camp
COL1A1 association and otosclerosis: a meta-analysis.
American journal of medical genetics. Part A 2012;158A(5):1066-70.
2012: Der-Fa Lu; Ann Marie McCarthy; Mikyung Moon; Lynne D Lanning; Richard J H Smith
Clinical features and outcomes of 98 children and adults with dense deposit disease.
Pediatric nephrology (Berlin, Germany) 2012;27(5):773-81.
2012: Sanjeev Sethi; Carla M Nester; Richard J H Smith
Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion.
Kidney international 2012;81(5):434-41.
2012: Yuzhou Zhang; Kai Wang; Kathy L Frees; Michael Jones; Louis M Katz; Nicole C Meyer; Carla Nishimura; Sanjeev Sethi; Richard J H Smith
Causes of alternative pathway dysregulation in dense deposit disease.
Clinical journal of the American Society of Nephrology : CJASN 2012;7(2):265-74.
2012: Behzad Davarnia; Reza Farajollahi; Zohreh Fattahi; Khadijeh Jalalvand; Kimia Kahrizi; Nooshin Nikzat; Carla Nishimura; Akbar Pirzade; Richard J H Smith; Sanaz Arzhangi; Mojgan Babanejad; Niloofar Bazazzadegan; Hossein Najmabadi
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
International journal of pediatric otorhinolaryngology 2012;76(2):268-71.
2012: Fengxiao Bu; Ardissino Gianluigi; Nicolo Borsa; Richard J H Smith
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Clinical & developmental immunology 2012;2012():370426.
2012: Yoko Nakano; Richard J H Smith; Xingshen Sun; Gregory Bonde; Robert A Cornell; John F Engelhardt; Bernd Fritzsch; Michael S Hildebrand; Israt Jahan; Botond Bánfi
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
PLoS genetics 2012;8(10):e1002966.
2011: A Eliot Shearer; Christina M Sloan; Michael S Hildebrand; Richard J H Smith
Deafness in the genomics era.
Hearing research 2011;282(1-2):1-9.
2011: Vahideh Norouzi; Richard J H Smith; Nooshin Nikzat; Carla Nishimura; Hiva Azizi; Niloofar Bazazzadegan; Fatemehsadat Esteghamat; Zohreh Fattahi; Khadijeh Jalalvand; Kimia Kahrizi; Hossein Najmabadi
Did the GJB2 35delG mutation originate in Iran?
American journal of medical genetics. Part A 2011;155A(10):2453-8.
2011: Robert W Eppsteiner; Richard J H Smith
Genetic disorders of the vestibular system.
Current opinion in otolaryngology & head and neck surgery 2011;19(5):397-402.
2011: Irene Gazquez; Marlan R Hansen; Jose Antonio Lopez-Escamez; Alicia Lopez-Nevot; Ismael Aran; Angel Batuecas; Colleen A Campbell; John P Carey; Charles C Della Santina; Bruce J Gantz; Nicole C Meyer; Lloyd B Minor; Antonia Moreno; Herminio Perez-Garrigues; Sofia Santos; Richard J H Smith; Andres Soto-Varela; Miguel A Lopez-Nevot
Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.
DNA and cell biology 2011;30(9):699-708.
2011: Richard J H Smith; Claire L Harris; Matthew C Pickering
Dense deposit disease.
Molecular immunology 2011;48(14):1604-10.
2011: Abraham M Sheffield; John A Chiorini; Giovanni Di Pasquale; Samuel P Gubbels; Michael S Hildebrand; Stephen S Newton; Richard J H Smith
Viral vector tropism for supporting cells in the developing murine cochlea.
Hearing research 2011;277(1-2):28-36.
2011: Michael S Hildebrand; Patrick Huygen; Hannie Kremer; K Lachlan; Fernando Mayo; Angeles Mencía; Nicole C Meyer; Silvia Modamio-Hoybjor; Carmelo Morales-Angulo; Felipe Moreno; matias morin; Carla J Nishimura; Leticia Olavarrieta; Isabelle Schrauwen; A Eliot Shearer; Richard J H Smith; Kyle R Taylor; Bruce Tompkins; Guy Van Camp; Maarten Van Wesemael; Heather Workman; Terry A Braun; Thomas L Casavant; Ignacio del Castillo; Adam P DeLuca; Corey W Goodman; Miguel A Moreno-Pelayo
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Human mutation 2011;32(7):825-34.
2011: Megan Ealy; Katherine A Lynch; Nicole C Meyer; Richard J H Smith
The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.
The Laryngoscope 2011;121(6):1184-6.
2011: Richard K Gurgel; Robert A Miller; Richard J H Smith
Use of portfolios in otolaryngology graduate medical education.
The Laryngoscope 2011;121(6):1173-6.
2011: Matthew J Provenzano; Stephanie L Hulstein; Donald H Solomon; Nancy M Bauman; Jose M Manaligod; Deborah S F Kacmarynski; Richard J H Smith
Pediatric endoscopic airway management with posterior cricoid rib grafting.
The Laryngoscope 2011;121(5):1062-6.
2011: Niloofar Bazazzadegan; Abraham M Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Nicole C Meyer; Guy Van Camp; Nele Hilgert; Seyedeh Sedigheh Abedini; Farkhondeh Habibi; Ahmad Daneshi; Carla Nishimura; Matthew R Avenarius; Mohammad Farhadi; Richard J H Smith; Hossein Najmabadi
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
American journal of medical genetics. Part A 2011;155A(5):1202-11.
2011: Sanjeev Sethi; Fernando C Fervenza; Yuzhou Zhang; Samih H Nasr; Nelson Leung; Julie Vrana; Carl Cramer; Carla M Nester; Richard J H Smith
Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement.
Clinical journal of the American Society of Nephrology : CJASN 2011;6(5):1009-17.
2011: Tara K Maga; Nicole C Meyer; Craig Belsha; Carla J Nishimura; Yuzhou Zhang; Richard J H Smith
A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2011;26(2):739-41.
2011: Megan Ealy; Richard J H Smith
Otosclerosis.
Advances in oto-rhino-laryngology 2011;70():122-9.
2011: William J Kimberling; Nicolo Borsa; Richard J H Smith
Hearing loss disorders associated with renal disease.
Advances in oto-rhino-laryngology 2011;70():75-83.
2011: Nikoletta Charizopoulou; Andrea Lelli; Margit Schraders; Kausik Ray; Michael S Hildebrand; Arabandi Ramesh; C R Srikumari Srisailapathy; Jaap Oostrik; Ronald J C Admiraal; Harold R Neely; Joseph R Latoche; Richard J H Smith; John K Northup; Hannie Kremer; Jeffrey R Holt; Konrad Noben-Trauth
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
Nature communications 2011;2():201.
2011: John P Renton; Richard J H Smith
Current treatment paradigms in the management of lymphatic malformations.
The Laryngoscope 2011;121(1):56-9.
2010: A Eliot Shearer; Adam P DeLuca; Michael S Hildebrand; Kyle R Taylor; José Gurrola; Steve Scherer; Todd E Scheetz; Richard J H Smith
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(49):21104-9.
2010: Michael S Hildebrand; Kimia Kahrizi; Catherine J Bromhead; A Eliot Shearer; Jennifer A Webster; Hossein Khodaei; Rezvan Abtahi; Niloofar Bazazzadegan; Mojgan Babanejad; Nooshin Nikzat; William J Kimberling; Dietrich A Stephan; Patrick Huygen; Melanie Bahlo; Richard J H Smith; Hossein Najmabadi
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
The Annals of otology, rhinology, and laryngology 2010;119(12):830-5.
2010: Michael S Hildebrand; Luke Gandolfo; A Eliot Shearer; Jennifer A Webster; Maren Jensen; William J Kimberling; Dietrich A Stephan; Patrick Huygen; Richard J H Smith; Melanie Bahlo
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
The Laryngoscope 2010;120(12):2489-93.
2010: Yukihide Maeda; Kunihiro Fukushima; Misato Hirai; Shin Kariya; Richard J H Smith; Kazunori Nishizaki
Microarray analysis of the effect of dexamethasone on murine cochlear explants.
Acta oto-laryngologica 2010;130(12):1329-34.
2010: Sanjeev Sethi; William R Sukov; Yuzhou Zhang; Fernando C Fervenza; Donna J Lager; Dylan V Miller; Lynn D Cornell; Srivilliputtur G Santhana Krishnan; Richard J H Smith
Dense deposit disease associated with monoclonal gammopathy of undetermined significance.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2010;56(5):977-82.
2010: Michael S Hildebrand; Matthew R Avenarius; Marc Fellous; Yuzhou Zhang; Nicole C Meyer; Jana Auer; Catherine Serres; Kimia Kahrizi; Hossein Najmabadi; Jacques Beckmann; Richard J H Smith
Genetic male infertility and mutation of CATSPER ion channels.
European journal of human genetics : EJHG 2010;18(11):1178-84.
2010: Steven Goudy; Nancy Bauman; José Manaligod; Richard J H Smith
Congenital laryngeal webs: surgical course and outcomes.
The Annals of otology, rhinology, and laryngology 2010;119(10):704-6.
2010: Ayda Khalfallah; Isabelle Schrauwen; Malek Mnaja; Erik Fransen; Imed Lahmar; Megan Ealy; Leila Dhouib; Hammadi Ayadi; Ilhem Charfedine; Nabil Driss; Ali Ghorbel; Richard J H Smith; Saber Masmoudi; Guy Van Camp
Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.
Annals of human genetics 2010;74(5):399-405.
2010: William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(8):512-6.
2010: Megan Ealy; Richard J H Smith
The genetics of otosclerosis.
Hearing research 2010;266(1-2):70-4.
2010: Tara K Maga; Carla J Nishimura; Amy E Weaver; Kathy L Frees; Richard J H Smith
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Human mutation 2010;31(6):E1445-60.
2010: Mariem Ben Saïd; Mounira Hmani-Aifa; Imen Amar; Shahid Mahmood Baig; Mirna Mustapha; Sedigheh Delmaghani; Abdelaziz Tlili; Abdelmonem Ghorbel; Hammadi Ayadi; Guy Van Camp; Richard J H Smith; Mustafa Tekin; Saber Masmoudi
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
Genetic testing and molecular biomarkers 2010;14(3):307-11.
2010: Sanjeev Sethi; Ladan Zand; Nelson Leung; Richard J H Smith; Dragan Jevremonic; Sandra S Herrmann; Fernando C Fervenza
Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy.
Clinical journal of the American Society of Nephrology : CJASN 2010;5(5):770-82.
2010: Hanan Tawadrous; Tara Maga; Josefina Sharma; Juan Kupferman; Richard J H Smith; Morris Schoeneman
A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany) 2010;25(5):947-51.
2010: Richard K Gurgel; Bradley Schiff; John H Flint; Robert A Miller; Gerald Zahtz; Richard V Smith; Marvin P Fried; Richard J H Smith
Mentoring in otolaryngology training programs.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2010;142(4):487-92.
2010: Hina T Gupta; Robert A Robinson; Ryan C Murray; Lucy Hynds Karnell; Richard J H Smith; Henry T Hoffman
Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis.
The Laryngoscope 2010;120(4):698-702.
2010: Michael S Hildebrand; P Dane Witmer; Shunbin Xu; Stephen S Newton; Kimia Kahrizi; Hossein Najmabadi; David Valle; Richard J H Smith
miRNA mutations are not a common cause of deafness.
American journal of medical genetics. Part A 2010;152A(3):646-52.
2010: Hana Odeh; Kristina L Hunker; Inna A Belyantseva; Hela Azaiez; Matthew R Avenarius; Lili Zheng; Linda M Peters; Leona H Gagnon; Nobuko Hagiwara; Michael J Skynner; Murray H Brilliant; Nicholas D Allen; Saima Riazuddin; Kenneth R Johnson; Yehoash Raphael; Hossein Najmabadi; Thomas B Friedman; James R Bartles; Richard J H Smith; David C Kohrman
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.
American journal of human genetics 2010;86(2):148-60.
2010: Isabelle Schrauwen; Megan Ealy; Erik Fransen; Kathleen Vanderstraeten; Melissa Thys; Nicole C Meyer; Marcel Cosgarea; Alexander M Huber; Manuela Mazzoli; Markus Pfister; Richard J H Smith; Guy Van Camp
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.
Human genetics 2010;127(2):155-62.
2010: Colleen A Campbell; Charles C Della Santina; Nicole C Meyer; Nancy B Smith; Oluwaseun A Myrie; Edwin M Stone; Kuni Fukushima; Joseph A Califano; John P Carey; Marlan R Hansen; Bruce J Gantz; Lloyd B Minor; Richard J H Smith
Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.
American journal of medical genetics. Part A 2010;152A(1):67-74.
2009: Isabelle Schrauwen; Melissa Thys; Kathleen Vanderstraeten; Erik Fransen; Megan Ealy; Cor W R J Cremers; Ingeborg Dhooge; Paul Van de Heyning; Erwin Offeciers; Richard J H Smith; Guy Van Camp
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2009;30(8):1079-83.
2009: Michael S Hildebrand; Adam P DeLuca; Kyle R Taylor; David P Hoskinson; In Ae Hur; Dylan Tack; Sarah J McMordie; Patrick Huygen; Thomas L Casavant; Richard J H Smith
A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
The Laryngoscope 2009;119(11):2211-5.
2009: William C Spanos; James T Brookes; Mark C Smith; Harold M Burkhart; Edward F Bell; Richard J H Smith
Unilateral vocal fold paralysis in premature infants after ligation of patent ductus arteriosus: vascular clip versus suture ligature.
The Annals of otology, rhinology, and laryngology 2009;118(10):750-3.
2009: Tao Yang; Richard J H Smith
The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
Human mutation 2009;30(10):1469-70; author reply 1471.
2009: Carole L Marcus; Richard J H Smith; Leila A Mankarious; Raanan Arens; Gordon S Mitchell; Ravindhra G Elluru; Vito Forte; Steven Goudy; Ethylin Jabs; Alex A Kane; Eliot Katz; David Paydarfar; Kevin D Pereira; Roger H Reeves; Joan T Richtsmeier; Ramon L Ruiz; Bradley T Thach; David E Tunkel; Jeffrey A Whitsett; David Wootton; Carol J Blaisdell
Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.
Proceedings of the American Thoracic Society 2009;6(6):513-20.
2009: nicolas grillet; Martin Schwander; Michael S Hildebrand; Anna Sczaniecka; Anand Kolatkar; Janice Velasco; Jennifer A Webster; Kimia Kahrizi; Hossein Najmabadi; William J Kimberling; Dietrich A Stephan; Melanie Bahlo; Timothy Wiltshire; Lisa Tarantino; Peter Kuhn; Richard J H Smith; Ulrich Müller
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
American journal of human genetics 2009;85(3):328-37.
2009: Yoko Nakano; Sung H Kim; Hyoung-Mi Kim; Joel D Sanneman; Yuzhou Zhang; Richard J H Smith; Daniel C Marcus; Philine Wangemann; Randy A Nessler; Botond Bánfi
A claudin-9-based ion permeability barrier is essential for hearing.
PLoS genetics 2009;5(8):e1000610.
2009: Robert A Robinson; Hina Gupta; Lucy Hynds Karnell; Richard J H Smith; Henry T Hoffman
Commentary on "Dysplasia in adults with recurrent respiratory papillomatosis: incidence and risk factors".
The Annals of otology, rhinology, and laryngology 2009;118(7):486-7.
2009: Kinuko Masaki; Jianwen Wendy Gu; Roozbeh Ghaffari; Gary Chan; Richard J H Smith; Dennis M Freeman; Alexander J Aranyosi
Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.
Biophysical journal 2009;96(11):4717-24.
2009: Nele Hilgert; Richard J H Smith; Guy Van Camp
Function and expression pattern of nonsyndromic deafness genes.
Current molecular medicine 2009;9(5):546-64.
2009: Salim Dogru; Eric P Wilkinson; Robert A Robinson; Richard J H Smith
Middle ear adenoma with neuroendocrine differentiation (MEA-ND) in the pediatric population.
International journal of pediatric otorhinolaryngology 2009;73(6):895-8.
2009: Kimia Kahrizi; Marzieh Mohseni; Carla Nishimura; Niloofar Bazazzadegan; Stephanie M Fischer; Atefeh Dehghani; Morteza Sayfati; Maryam Taghdiri; Payman Jamali; Richard J H Smith; Fereydoun Azizi; Hossein Najmabadi
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
European journal of pediatrics 2009;168(6):651-3.
2009: Tao Yang; Jose G Gurrola; Hao Wu; Sui M Chiu; Philine Wangemann; Peter M Snyder; Richard J H Smith
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.
American journal of human genetics 2009;84(5):651-7.
2009: Sanjeev Sethi; Jeff Gamez; Julie A Vrana; Jason D Theis; H Robert Bergen; Peter F Zipfel; Ahmet Dogan; Richard J H Smith
Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway.
Kidney international 2009;75(9):952-60.
2009: Matthew R Avenarius; Michael S Hildebrand; Yuzhou Zhang; Nicole C Meyer; Luke L H Smith; Kimia Kahrizi; Hossein Najmabadi; Richard J H Smith
Human male infertility caused by mutations in the CATSPER1 channel protein.
American journal of human genetics 2009;84(4):505-10.
2009: A Eliot Shearer; Michael S Hildebrand; Jennifer A Webster; Kimia Kahrizi; Nicole C Meyer; Khadijeh Jalalvand; Sanaz Arzhanginy; William J Kimberling; Dietrich A Stephan; Melanie Bahlo; Richard J H Smith; Hossein Najmabadi
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
The Laryngoscope 2009;119(4):727-33.
2009: Isabelle Schrauwen; Megan Ealy; Matthew Huentelman; Melissa Thys; Nils Homer; Kathleen Vanderstraeten; Erik Fransen; Jason J Corneveaux; David Craig; Mireille Claustres; Cor W R J Cremers; Ingeborg Dhooge; Paul Van de Heyning; Robert Vincent; Erwin Offeciers; Richard J H Smith; Guy Van Camp
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
American journal of human genetics 2009;84(3):328-38.
2009: A Eliot Shearer; Michael S Hildebrand; Catherine J Bromhead; Kimia Kahrizi; Jennifer A Webster; Batool Azadeh; William J Kimberling; Ali Anousheh; Arash Nazeri; Dietrich A Stephan; Hossein Najmabadi; Richard J H Smith; Melanie Bahlo
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
American journal of medical genetics. Part A 2009;149A(3):555-8.
2009: Kara Goodin; Sandra Prucka; Audie L Woolley; Juergen Kohlhase; Richard J H Smith; John Grant; Nathaniel H Robin
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.
American journal of medical genetics. Part A 2009;149A(3):535-8.
2009: Nele Hilgert; Richard J H Smith; Guy Van Camp
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Mutation research 2009;681(2-3):189-96.
2009: Michael S Hildebrand; Dylan Tack; Adam Deluca; In Ae Hur; Jana M Van Rybroek; Sarah J McMordie; Ann Muilenburg; David P Hoskinson; Guy Van Camp; Myles L Pensak; Ian S Storper; Patrick Huygen; Thomas L Casavant; Richard J H Smith
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
American journal of medical genetics. Part A 2009;149A(2):280-5.
2009: Peter F Zipfel; Richard J H Smith; Christine Skerka
Factor I and factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(2):385-7.
2009: Micah R Chan; Christie P Thomas; Jose R Torrealba; Arjang Djamali; Luis A Fernandez; Carla J Nishimura; Richard J H Smith; Milagros D Samaniego
Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2009;53(2):321-6.
2009: Yuzhou Zhang; Marvam Zanganeh; Navid Al-Madani; Ahmad Daneshi; Kimia Kahrizi; Mahdi Malekpour; Marzieh Mohseni; Faezeh Mojahedi; Hossein Najmabadi; Richard J H Smith
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
BMJ case reports 2009;2009():.
2009: Yukihide Maeda; Abraham M Sheffield; Richard J H Smith
Therapeutic regulation of gene expression in the inner ear using RNA interference.
Advances in oto-rhino-laryngology 2009;66():13-36.
2009: Mark C Smith; M Bridget Zimmerman; Diane K Burke; Nancy M Bauman; Yutaka Sato; Richard J H Smith
Efficacy and safety of OK-432 immunotherapy of lymphatic malformations.
The Laryngoscope 2009;119(1):107-15.
2009: Justin D Hill; Richard J H Smith
Monitoring stress levels in postgraduate medical training.
The Laryngoscope 2009;119(1):75-8.
2008: Michael S Hildebrand; Dylan Tack; Sarah J McMordie; Adam DeLuca; In Ae Hur; Carla Nishimura; Patrick Huygen; Thomas L Casavant; Richard J H Smith
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(11):797-804.
2008: James T Brookes; Richard J H Smith; Arnold H Menezes; Mark C Smith
Median labiomandibular glossotomy approach to the craniocervical region.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2008;24(10):1195-201.
2008: Xin Du; Martin Schwander; Eva Marie Y Moresco; Pia Viviani; Claudia Haller; Michael Hildebrand; Kwang Pak; Lisa Tarantino; Amanda Roberts; Heather Richardson; George F Koob; Hossein Najmabadi; Allen F Ryan; Richard J H Smith; Ulrich Müller; Bruce Beutler
A catechol-O-methyltransferase that is essential for auditory function in mice and humans.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(38):14609-14.
2008: Michael S Hildebrand; Jessica L Sorensen; Maren Jensen; William J Kimberling; Richard J H Smith
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
American journal of medical genetics. Part A 2008;146A(17):2258-65.
2008: Anoosh Naghavi; Carla Nishimura; Kimia Kahrizi; Yasser Riazalhosseini; Niloofar Bazazzadegan; Marzieh Mohseni; Richard J H Smith; Hossein Najmabadi
GJB2 mutations in Baluchi population.
Journal of genetics 2008;87(2):195-7.
2008: Jérôme Ruel; Sarah Emery; Régis Nouvian; Tiphaine Bersot; Bénédicte Amilhon; Jana M Van Rybroek; Guy Rebillard; Marc Lenoir; Michel Eybalin; Benjamin Delprat; Theru A Sivakumaran; Bruno GIROS; Salah El Mestikawy; Tobias Moser; Richard J H Smith; Marci M Lesperance; Jean-Luc Puel
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
American journal of human genetics 2008;83(2):278-92.
2008: Megan Ealy; Wenjie Chen; Gi-Yung Ryu; Jae-Geun Yoon; D Bradley Welling; Marlan Hansen; Anup Madan; Richard J H Smith
Gene expression analysis of human otosclerotic stapedial footplates.
Hearing research 2008;240(1-2):80-6.
2008: Amit Kochhar; Dana J Orten; Jessica L Sorensen; Stephanie M Fischer; Cor W R J Cremers; William J Kimberling; Richard J H Smith
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Human mutation 2008;29(4):565.
2008: Dana J Orten; Stephanie M Fischer; Jessica L Sorensen; Uppala Radhakrishna; Cor W R J Cremers; Henri Marres; Guy Van Camp; Katherine O Welch; Richard J H Smith; William J Kimberling
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Human mutation 2008;29(4):537-44.
2008: Isabelle Schrauwen; Melissa Thys; Kathleen Vanderstraeten; Erik Fransen; Nele Dieltjens; Jeroen R Huyghe; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp
Association of bone morphogenetic proteins with otosclerosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008;23(4):507-16.
2008: Fatemeh Alasti; Mohammad Hossein Sanati; Amir Hossein Behrouzifard; Abdorrahim Sadeghi; Arjan de Brouwer; Hannie Kremer; Richard J H Smith; Guy Van Camp
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
International journal of pediatric otorhinolaryngology 2008;72(2):249-55.
2008: James T Brookes; Adam B Kanis; Lih Yeen Tan; Lisbeth Tranebjaerg; Abram Vore; Richard J H Smith
Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome.
International journal of pediatric otorhinolaryngology 2008;72(1):121-6.
2008: Michel Guipponi; Min-Yen Toh; Justin Tan; Daeho Park; Kelly Hanson; Ester Ballana; David Kwong; Ping Z F Cannon; Qingyu Wu; Alex Gout; Mauro Delorenzi; Terence P Speed; Richard J H Smith; Hans-Henrik M Dahl; Michael Petersen; Rohan Teasdale; Xavier Estivill; Woo Jin Park; Hamish Scott
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Human mutation 2008;29(1):130-41.
2007: Hela Azaiez; Tao Yang; Sai Prasad; Jessica L Sorensen; Carla Nishimura; William J Kimberling; Richard J H Smith
Genotype-phenotype correlations for SLC26A4-related deafness.
Human genetics 2007;122(5):451-7.
2007: Michael S Hildebrand; Michelle G de Silva; Tiong Yang Tan; Elizabeth Rose; Carla Nishimura; Tanya Tolmachova; Joanne M Hulett; Susan M White; Jeremy Silver; Melanie Bahlo; Richard J H Smith; Hans-Henrik M Dahl
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.
American journal of medical genetics. Part A 2007;143A(21):2564-75.
2007: Richard J H Smith; Jessy Alexander; Paul N Barlow; Marina Botto; Thomas L Cassavant; H Terence Cook; Santiago Rodriguez de Córdoba; Gregory S Hageman; T. Sakari Jokiranta; William J Kimberling; John D Lambris; Lynne D Lanning; Vicki Levidiotis; Christoph Licht; Hans U Lutz; Seppo Meri; Matthew C Pickering; Richard J Quigg; Angelique L W M M Rops; David J Salant; Sanjeev Sethi; Joshua M Thurman; Hope F Tully; Sean P Tully; Johan Van der Vlag; Patrick D Walker; Reinhard Wurzner; Peter F Zipfel
New approaches to the treatment of dense deposit disease.
Journal of the American Society of Nephrology : JASN 2007;18(9):2447-56.
2007: Melissa Thys; Isabelle Schrauwen; Kathleen Vanderstraeten; Koen Janssens; Nele Dieltjens; Kris Van Den Bogaert; Erik Fransen; Wenjie Chen; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Jos Claes; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Human molecular genetics 2007;16(17):2021-30.
2007: Michael S Hildebrand; David Coman; Tao Yang; R J McKinlay Gardner; Elizabeth Rose; Richard J H Smith; Melanie Bahlo; Hans-Henrik M Dahl
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
American journal of medical genetics. Part A 2007;143A(14):1599-604.
2007: Nicole C Meyer; Fatemeh Alasti; Carla Nishimura; Parisa Imanirad; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Nafiseh Kochakian; Payman Jamali; Guy Van Camp; Richard J H Smith; Hossein Najmabadi
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
American journal of medical genetics. Part A 2007;143A(14):1623-9.
2007: Amit Kochhar; Stephanie M Fischer; William J Kimberling; Richard J H Smith
Branchio-oto-renal syndrome.
American journal of medical genetics. Part A 2007;143A(14):1671-8.
2007: Amit Kochhar; Michael S Hildebrand; Richard J H Smith
Clinical aspects of hereditary hearing loss.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(7):393-408.
2007: Yukihide Maeda; Kunihiro Fukushima; Akihiro Kawasaki; Kazunori Nishizaki; Richard J H Smith
Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice.
Neuroscience research 2007;58(3):250-4.
2007: Hela Azaiez; Richard J H Smith
In reference to temporal bone imaging in GJB2 deafness.
The Laryngoscope 2007;117(6):1127; author reply 1127-9.
2007: Tao Yang; Hilmar Vidarsson; Sandra Rodrigo-Blomqvist; Sally S Rosengren; Sven Enerback; Richard J H Smith
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
American journal of human genetics 2007;80(6):1055-63.
2007: Rick F Nelson; Kevin A Glenn; Yuzhou Zhang; Hsiang Wen; Tina Knutson; Cynthia M Gouvion; Barbara K Robinson; Zouping Zhou; Baoli Yang; Richard J H Smith; Henry L Paulson
Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(19):5163-71.
2007: James T Brookes; Mark C Smith; Richard J H Smith; Nancy M Bauman; Jose M Manaligod; Anthony D Sandler
H-type congenital tracheoesophageal fistula: University Of Iowa experience 1985 to 2005.
The Annals of otology, rhinology, and laryngology 2007;116(5):363-8.
2007: Shahid Y Khan; Zubair M Ahmed; Muhammad I Shabbir; Shin-ichiro Kitajiri; Saeeda Kalsoom; Saba Tasneem; Sara Shayiq; Arabandi Ramesh; Srikumari Srisailpathy; Shaheen N Khan; Richard J H Smith; Sheikh Amer Riazuddin; Thomas B Friedman; Sheikh Riazuddin
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
Human mutation 2007;28(5):417-23.
2007: Bethan E Hoskins; Carl H Cramer; Derek Silvius; Dan Zou; Richard M Raymond; Dana J Orten; William J Kimberling; Richard J H Smith; Dominique Weil; Christine Petit; Edgar Otto; Pin-Xian Xu; Friedhelm Hildebrandt
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
American journal of human genetics 2007;80(4):800-4.
2007: Yuzhou Zhang; Mahdi Malekpour; Navid Al-Madani; Kimia Kahrizi; Marvam Zanganeh; Naomi J Lohr; Marzieh Mohseni; Faezeh Mojahedi; Ahmad Daneshi; Hossein Najmabadi; Richard J H Smith
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
Journal of medical genetics 2007;44(4):233-40.
2007: Ryan D Duncan; Sandra Prucka; Brian J Wiatrak; Richard J H Smith; Nathaniel H Robin
Pediatric otolaryngologists' use of genetic testing.
Archives of otolaryngology--head & neck surgery 2007;133(3):231-6.
2007: Michael S Hildebrand; Michelle G de Silva; Tuomas Klockars; Colleen Campbell; Richard J H Smith; Hans-Henrik M Dahl
Gene expression profiling analysis of the inner ear.
Hearing research 2007;225(1-2):1-10.
2007: Melissa Thys; Kris Van Den Bogaert; Vasiliki iliadou; Kathleen Vanderstraeten; Nele Dieltjens; Isabelle Schrauwen; Wenjie Chen; Nikolaos Eleftheriades; Maria Grigoriadou; Robert J Pauw; Cor R W J Cremers; Richard J H Smith; Michael B Petersen; Guy Van Camp
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
European journal of human genetics : EJHG 2007;15(3):362-8.
2007: Martin Schwander; Anna Sczaniecka; nicolas grillet; Janice Bailey; Matthew Avenarius; Hossein Najmabadi; Brian M Steffy; Glenn C Federe; Erica A Lagler; Raheleh Banan; Rudy Hice; Laura Grabowski-Boase; Elisabeth M Keithley; Allen F Ryan; Gary D Housley; Timothy Wiltshire; Richard J H Smith; Lisa Tarantino; Ulrich Müller
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(9):2163-75.
2007: Lut Van Laer; Nicole C Meyer; Mahdi Malekpour; Yasser Riazalhosseini; Mahdi Moghannibashi; Kimia Kahrizi; Ann Vandevelde; Fatemeh Alasti; Hossein Najmabadi; Guy Van Camp; Richard J H Smith
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Journal of human genetics 2007;52(6):549-52.
2007: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Peter C Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
Archives of otolaryngology--head & neck surgery 2007;133(1):7-8.
2007: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
The Laryngoscope 2007;117(1):1-2.
2007: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Susan F Rudy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
American journal of otolaryngology 2007;28(1):1-2.
2006: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Susan F Rudy; Peter C Weber; Randal S Weber; Michael S Benniger; Richard J Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
Ear, nose, & throat journal 2006;85(12):792, 795.
2006: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Susan F Rudy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
Journal of voice : official journal of the Voice Foundation 2006;20(4):485-6.
2006: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2006;135(6):829-30.
2006: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2006;27(8):1049-50.
2006: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
International journal of pediatric otorhinolaryngology 2006;70(12):2017-8.
2006: Jonas T Johnson; John K Niparko; Paul A Levine; David W Kennedy; Susan F Rudy; Pete Weber; Randal S Weber; Michael S Benninger; Richard M Rosenfeld; Robert J Ruben; Richard J H Smith; Robert T Sataloff; Neil Weir
Standards for ethical publication.
American journal of rhinology 2006;20(6):559.
2006: Steven Goudy; David Lott; John Canady; Richard J H Smith
Conductive hearing loss and otopathology in cleft palate patients.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2006;134(6):946-8.
2006: Katherine J D Ashbourne Excoffon; Matthew Avenarius; Marlan R Hansen; William J Kimberling; Hossein Najmabadi; Richard J H Smith; Joseph Zabner
The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development.
Hearing research 2006;215(1-2):1-9.
2006: Péter J Kiss; Judit Knisz; Yuzhou Zhang; Jonas Baltrusaitis; Curt D Sigmund; Ruediger Thalmann; Richard J H Smith; Elisabeth Verpy; Botond Bánfi
Inactivation of NADPH oxidase organizer 1 results in severe imbalance.
Current biology : CB 2006;16(2):208-13.
2006: Christine Knoll; Richard J H Smith; Carol G Shores; Julie Blatt
Hearing genes and cisplatin deafness: a pilot study.
The Laryngoscope 2006;116(1):72-4.
2006: Geetika Khanna; Yutaka Sato; Richard J H Smith; Nancy M Bauman; Jeffrey A Nerad
Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings.
Radiographics : a review publication of the Radiological Society of North America, Inc 2006;26(1):157-71.
2005: Abram P Vore; Eugene H Chang; Jane E Hoppe; Merlin G Butler; Shawnia Forrester; Michael C Schneider; Luke L H Smith; Daniel W Burke; Colleen Campbell; Richard J H Smith
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.
Archives of otolaryngology--head & neck surgery 2005;131(12):1057-63.
2005: Tao Yang; Markus Pfister; nikolaus blin; Hans-Peter Zenner; Carsten M Pusch; Richard J H Smith
Genetic heterogeneity of deafness phenotypes linked to DFNA4.
American journal of medical genetics. Part A 2005;139(1):9-12.
2005: Richard D Wemer; John H Lee; Henry T Hoffman; Robert A Robinson; Richard J H Smith
Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis.
The Annals of otology, rhinology, and laryngology 2005;114(11):836-9.
2005: Michael S Benninger; Jeffrey P Harris; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards.
Audiology & neuro-otology 2005;10(6):303-4.
2005: Craig S Derkay; Richard J H Smith; John McClay; Jo-Anne H van Burik; Brian J Wiatrak; James Arnold; Bruce Berger; John R Neefe
HspE7 treatment of pediatric recurrent respiratory papillomatosis: final results of an open-label trial.
The Annals of otology, rhinology, and laryngology 2005;114(9):730-7.
2005: Lut Van Laer; Markus Pfister; Sofie Thys; Karen Vrijens; Marcus Mueller; Lieve Umans; Lutgarde Serneels; Luc Van Nassauw; Frank Kooy; Richard J H Smith; Jean-Pierre Timmermans; Fred Van Leuven; Guy Van Camp
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.
Neurobiology of disease 2005;19(3):386-99.
2005: Yukihide Maeda; Kunihiro Fukushima; Kazunori Nishizaki; Richard J H Smith
In vitro and in vivo suppression of GJB2 expression by RNA interference.
Human molecular genetics 2005;14(12):1641-50.
2005: Gregory S Hageman; Don H Anderson; Lincoln V Johnson; Lisa S Hancox; Andrew J Taiber; Lisa I Hardisty; Jill L Hageman; Heather A Stockman; James D Borchardt; karen gehrs; Richard J H Smith; Giuliana Silvestri; Stephen R Russell; Caroline C W Klaver; Irene Barbazetto; Stanley Chang; Lawrence A Yannuzzi; Gaetano R Barile; John C Merriam; R Theodore Smith; Adam K Olsh; Julie Bergeron; Jana Zernant; Joanna E Merriam; Bert Gold; Michael Dean; Rando Allikmets
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(20):7227-32.
2005: Michael S Benninger; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of Otolaryngology-Head and Neck Surgery Journals to collaborate in maintenance of high ethical standards.
American journal of rhinology 2005;19(3):227-8.
2005: Michael S Benninger; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards.
Ear, nose, & throat journal 2005;84(5):262-3.
2005: Michael S Benninger; Robert K Jackler; Michael M Johns; Jonas T Johnson; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology--head and neck surgery journals to collaborate in maintenance of high ethical standards.
Archives of otolaryngology--head & neck surgery 2005;131(5):381-2.
2005: Michael S Benninger; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2005;26(3):331-2.
2005: Michael S Benninger; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2005;132(5):675-6.
2005: Michael S Benninger; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology--head and neck surgery journals to collaborate in maintenance of high ethical standards.
The Laryngoscope 2005;115(5):761-2.
2005: Michael S Benninger; Robert K Jackler; Jonas T Johnson; Michael M Johns; David W Kennedy; Robert J Ruben; Robert T Sataloff; Richard J H Smith; Peter C Weber; Randal S Weber; Eric Young
Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards.
Head & neck 2005;27(5):351-2.
2005: Gerald B Appel; H Terence Cook; Gregory S Hageman; John Jennette; Michael Kashgarian; Michael Kirschfink; John D Lambris; Lynne D Lanning; Hans U Lutz; Seppo Meri; Noel R Rose; David J Salant; Sanjeev Sethi; Richard J H Smith; William E Smoyer; Hope F Tully; Sean P Tully; Patrick Walker; Michael Welsh; Reinhard Wurzner; Peter F Zipfel
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update.
Journal of the American Society of Nephrology : JASN 2005;16(5):1392-403.
2005: Yukihide Maeda; Kunihiro Fukushima; Masashi Kakiuchi; Yorihisa Orita; Kazunori Nishizaki; Richard J H Smith
RT-PCR analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explants.
Neuroreport 2005;16(4):361-5.
2005: Richard J H Smith; James F Bale; Karl R White
Sensorineural hearing loss in children.
Lancet 2005;365(9462):879-90.
2005: Hossein Najmabadi; Carla Nishimura; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Ahmad Daneshi; Mohammad Farhadi; Marzieh Mohseni; Nejat Mahdieh; Ahmad Ebrahimi; Niloofar Bazazzadegan; Anoosh Naghavi; Matthew Avenarius; Sanaz Arzhangi; Richard J H Smith
GJB2 mutations: passage through Iran.
American journal of medical genetics. Part A 2005;133A(2):132-7.
2005: Igor Leykin; Ke Hao; Junsheng Cheng; Nicole Meyer; Martin R Pollak; Richard J H Smith; Wing H Wong; Carsten Rosenow; Cheng Li
Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data.
BMC genetics 2005;6():7.
2004: Ryan K Sewell; Chen Song; Nancy M Bauman; Richard J H Smith; Peter Blanck
Hearing loss in Union Army veterans from 1862 to 1920.
The Laryngoscope 2004;114(12):2147-53.
2004: Hela Azaiez; G Parker Chamberlin; Stephanie M Fischer; Chelsea L Welp; Sai D Prasad; R Thomas Taggart; Ignacio del Castillo; Guy Van Camp; Richard J H Smith
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Human mutation 2004;24(4):305-11.
2004: Richard J H Smith
Clinical application of genetic testing for deafness.
American journal of medical genetics. Part A 2004;130A(1):8-12.
2004: Christopher L Brown; Scott M Graham; Mark C Griffin; Richard J H Smith; Keith D Carter; Jeffrey A Nerad; Nancy M Bauman
Pediatric medial subperiosteal orbital abscess: medical management where possible.
American journal of rhinology 2004;18(5):321-7.
2004: Yuzhou Zhang; boyd knosp; Mark Maconochie; Rick A Friedman; Richard J H Smith
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.
Journal of the Association for Research in Otolaryngology : JARO 2004;5(3):295-304.
2004: André-Paul Michaud; Nancy M Bauman; Diane K Burke; Jose M Manaligod; Richard J H Smith
Spastic diplegia and other motor disturbances in infants receiving interferon-alpha.
The Laryngoscope 2004;114(7):1231-6.
2004: Yingshi Guo; Valentina Pilipenko; Lynne H Y Lim; Hongwei Dou; Liane Johnson; Srikumari Srisailapathy; Arabandi Ramesh; Daniel I Choo; Richard J H Smith; John H Greinwald
Refining the DFNB17 interval in consanguineous Indian families.
Molecular biology reports 2004;31(2):97-105.
2004: Eugene H Chang; Maithilee Menezes; Nicole C Meyer; Robert A Cucci; Virginie S Vervoort; Charles E Schwartz; Richard J H Smith
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
Human mutation 2004;23(6):582-9.
2004: Rainer G Ruf; Pin-Xian Xu; Derek Silvius; Edgar Otto; Frank Beekmann; Ulla T Muerb; Shrawan Kumar; Thomas Neuhaus; Markus J Kemper; Richard M Raymond; Patrick D Brophy; Jennifer Berkman; Michael Gattas; Valentine J Hyland; Eva-Maria Ruf; Charles Schwartz; Eugene H Chang; Richard J H Smith; Constantine Straturis; Dominique Weil; Christine Petit; Friedhelm Hildebrandt
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(21):8090-5.
2004: Benjamin B Cable; Jose M Manaligod; Nancy M Bauman; Richard J H Smith
Pediatric airway reconstruction: principles, decision-making, and outcomes at the University of Iowa hospitals and clinics.
The Annals of otology, rhinology, and laryngology 2004;113(4):289-93.
2004: Michael S Hildebrand; Michelle G de Silva; Tuomas Klockars; Elizabeth Rose; Margaret Price; Richard J H Smith; Wyman T McGuirt; Helen Christopoulos; Christine Petit; Hans-Henrik M Dahl
Characterisation of DRASIC in the mouse inner ear.
Hearing research 2004;190(1-2):149-60.
2004: Richard J H Smith
Lymphatic malformations.
Lymphatic research and biology 2004;2(1):25-31.
2004: Anand N Mhatre; Jiang Li; Arthur F Chen; C Spencer Yost; Richard J H Smith; Christoph H Kindler; Anil K Lalwani
Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4.
Journal of neuroscience research 2004;75(1):25-31.
2004: Sai Prasad; Karen A Kölln; Robert A Cucci; Richard C Trembath; Guy Van Camp; Richard J H Smith
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
American journal of medical genetics. Part A 2004;124A(1):1-9.
2003: Paul W Bauer; Ann E Geers; Christine Brenner; Jean Sachar Moog; Richard J H Smith
The effect of GJB2 allele variants on performance after cochlear implantation.
The Laryngoscope 2003;113(12):2135-40.
2003: Yildirim A Bayazit; Benjamin B Cable; Osman Cataloluk; Cüneyt Orhan Kara; Parker Chamberlin; Richard J H Smith; Muzaffer Kanlikama; Enver Ozer; Ecir Ali Cakmak; Semih Mumbuc; Ahmet Arslan
GJB2 gene mutations causing familial hereditary deafness in Turkey.
International journal of pediatric otorhinolaryngology 2003;67(12):1331-5.
2003: Ignacio del Castillo; Miguel A Moreno-Pelayo; Francisco del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa T Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics 2003;73(6):1452-8.
2003: Spiros Manolidis; Raye L Alford; Richard J H Smith; Craig Ball; Leonidas Manolidis
Do the genes that cause otosclerosis reduce susceptibility to otitis media?
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2003;24(6):868-71.
2003: Kim Cryns; Theru A Sivakumaran; Jody M W van den Ouweland; Ronald Pennings; Cor W R J Cremers; Kris Flothmann; Terry-Lynn Young; Richard J H Smith; Marci M Lesperance; Guy Van Camp
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Human mutation 2003;22(4):275-87.
2003: Eugene H Chang; Guy Van Camp; Richard J H Smith
The role of connexins in human disease.
Ear and hearing 2003;24(4):314-23.
2003: Lut Van Laer; Kim Cryns; Richard J H Smith; Guy Van Camp
Nonsyndromic hearing loss.
Ear and hearing 2003;24(4):275-88.
2003: Raye L Alford; Thomas B Friedman; Bronya J B Keats; William J Kimberling; Virginia K Proud; Richard J H Smith; Kathleen S Arnos; Bruce Korf; Heidi L Rehm; Helga V Toriello
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(4):338-41.
2003: Xue Zhong Liu; Xiao Mei Ouyang; Xia Juan Xia; Jing Zheng; Arti Pandya; Fang Li; Li Lin Du; Katherine O Welch; Christine Petit; Richard J H Smith; Bradley T Webb; Denise Yan; Kathleen S Arnos; David Corey; Peter Dallos; Walter E Nance; Zheng Yi Chen
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
Human molecular genetics 2003;12(10):1155-62.
2003: Richard J H Smith; Stephen W Hone
Genetic screening for deafness.
Pediatric clinics of North America 2003;50(2):315-29.
2003: Richard J H Smith; Patrick Huygen
Making sense of nonsyndromic deafness.
Archives of otolaryngology--head & neck surgery 2003;129(4):405-6.
2003: Kim Cryns; Sofie Thys; Lut Van Laer; Yoshitomo Oka; Markus Pfister; Luc Van Nassauw; Richard J H Smith; Jean-Pierre Timmermans; Guy Van Camp
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells.
Histochemistry and cell biology 2003;119(3):247-56.
2002: Chantal M Giguère; Nancy M Bauman; Richard J H Smith
New treatment options for lymphangioma in infants and children.
The Annals of otology, rhinology, and laryngology 2002;111(12 Pt 1):1066-75.
2002: David M Poetker; Anthony D Sandler; David L Scott; Richard J H Smith; Nancy M Bauman
Survivin expression in juvenile-onset recurrent respiratory papillomatosis.
The Annals of otology, rhinology, and laryngology 2002;111(11):957-61.
2002: Virginie S Vervoort; Richard J H Smith; Jane O'Brien; Richard J Schroer; Albert G Abbott; Roger E Stevenson; Charles E Schwartz
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.
European journal of human genetics : EJHG 2002;10(11):757-66.
2002: Chantal M Giguère; Nancy M Bauman; Yutaka Sato; Diane K Burke; John H Greinwald; Seth Pransky; Peggy Kelley; Keith Georgeson; Richard J H Smith
Treatment of lymphangiomas with OK-432 (Picibanil) sclerotherapy: a prospective multi-institutional trial.
Archives of otolaryngology--head & neck surgery 2002;128(10):1137-44.
2002: Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Sheikh Amer Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J H Smith; Edward R Wilcox
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
American journal of human genetics 2002;71(3):632-6.
2002: Richard J H Smith
Deafness: from bedside to bench and back.
Lancet 2002;360(9334):656-7.
2002: Stephen W Hone; Richard J H Smith
Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing.
Otolaryngologic clinics of North America 2002;35(4):751-64.
2002: Akemi Sugata; Kunihiro Fukushima; Kennichi Sugata; Syouichiro Fukuda; Nobuhiko Kimura; Mehmet Gunduz; Norio Kasai; Shinichi Usami; Richard J H Smith; Kazunori Nishizaki
High-throughput screening for GJB2 mutations--its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations.
Auris, nasus, larynx 2002;29(3):231-9.
2002: Richard J H Smith; Nathaniel H Robin
Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness.
Journal of communication disorders 2002;35(4):367-77.
2002: Lisa M Astuto; Philip M Kelley; James W Askew; Michael D Weston; Richard J H Smith; Abdulrahman Alswaid; Mona Al-Rakaf; William J Kimberling
Searching for evidence of DFNB2.
American journal of medical genetics 2002;109(4):291-7.
2002: Kim Cryns; Markus Pfister; Ronald Pennings; Steven J H Bom; Kris Flothmann; Goele Caethoven; Hannie Kremer; Isabelle Schatteman; Karen A Köln; Tímea Tóth; Susan Kupka; nikolaus blin; Peter Nürnberg; Holger Thiele; Paul H Van De Heyning; William Reardon; Dafydd Stephens; Cor W R J Cremers; Richard J H Smith; Guy Van Camp
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Human genetics 2002;110(5):389-94.
2002: Glenn E Green; Daryl A Scott; Joshua M McDonald; Holly F B Teagle; Bruce J Tomblin; Linda J Spencer; George G Woodworth; John F Knutson; Bruce J Gantz; Val C Sheffield; Richard J H Smith
Performance of cochlear implant recipients with GJB2-related deafness.
American journal of medical genetics 2002;109(3):167-70.
2002: Hossein Najmabadi; Robert A Cucci; Solmaz Sahebjam; Nafiseh Kouchakian; Mohammad Farhadi; Kimia Kahrizi; Sanaz Arzhangi; Naiimeh Daneshmandan; Khalil Javan; Richard J H Smith
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
Human mutation 2002;19(5):572.
2002: Allan Vescan; Lorne S Parnes; Robert A Cucci; Richard J H Smith; Christine MacNeill
Cochlear implantation and Pendred's syndrome mutation in monozygotic twins with large vestibular aqueduct syndrome.
The Journal of otolaryngology 2002;31(1):54-7.
2002: Wyman T McGuirt; Sai D Prasad; Robert A Cucci; Glenn E Green; Richard J H Smith
Clinical presentation of DFNB1.
Advances in oto-rhino-laryngology 2002;61():113-9.
2002: Els M R De Leenheer; Wyman T McGuirt; Henricus P M Kunst; Patrick Huygen; Richard J H Smith; Cor W R J Cremers
The phenotype of DFNA13/COL11A2.
Advances in oto-rhino-laryngology 2002;61():85-91.
2002: Els M R De Leenheer; Patrick Huygen; Sigrid Wayne; Margriet Verstreken; Frank Declau; Guy Van Camp; Paul H Van De Heyning; Richard J H Smith; Cor W R J Cremers
DFNA10/EYA4--the clinical picture.
Advances in oto-rhino-laryngology 2002;61():73-8.
2002: Stephen W Hone; Richard J H Smith
Understanding inner ear physiology at the molecular level.
Advances in oto-rhino-laryngology 2002;61():1-10.
2001: Stephen W Hone; Richard J H Smith
Genetics of hearing impairment.
Seminars in neonatology : SN 2001;6(6):531-41.
2001: J D Holcomb; Debra Jaffe; John H Greinwald; Nancy M Bauman; Richard J H Smith
Nontraumatic atlantoaxial rotary subluxation in the pediatric otolaryngology patient. A report of four cases.
The Annals of otology, rhinology, and laryngology 2001;110(12):1137-40.
2001: Els M R De Leenheer; Patrick Huygen; Sigrid Wayne; Richard J H Smith; Cor W R J Cremers
The DFNA10 phenotype.
The Annals of otology, rhinology, and laryngology 2001;110(9):861-6.
2001: AH Chen; Dietrich A Stephan; T Hasson; Kunihiro Fukushima; C M Nelissen; Arthur F Chen; A I Jun; Arabandi Ramesh; Guy Van Camp; Richard J H Smith
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
Archives of otolaryngology--head & neck surgery 2001;127(8):921-5.
2001: Lut Van Laer; P Coucke; Robert F Mueller; Goele Caethoven; Kris Flothmann; Sai D Prasad; G Parker Chamberlin; MJ Houseman; Graham Taylor; C M Van de Heyning; Erik Fransen; J Rowland; Robert A Cucci; Richard J H Smith; Guy Van Camp
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Journal of medical genetics 2001;38(8):515-8.
2001: Xue Zhong Liu; S Blanton; Maria Bitner-Glindzicz; Arti Pandya; BL Landa; B MacArdle; Kaukat Rajput; S Bellman; Bradley T Webb; X Ping; Richard J H Smith; Walter E Nance
Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
Clinical genetics 2001;60(1):58-62.
2001: C Campbell; Robert A Cucci; Sai Prasad; Glenn E Green; J B Edeal; C E Galer; Lawrence P Karniski; Val C Sheffield; Richard J H Smith
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Human mutation 2001;17(5):403-11.
2001: Norio Kasai; Kunihiro Fukushima; Y Ueki; S Prasad; J Nosakowski; Kennichi Sugata; Akemi Sugata; Kazunori Nishizaki; N C Meyer; Richard J H Smith
Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.
Gene 2001;264(1):113-22.
2001: Kris Van Den Bogaert; Paul J Govaerts; Isabelle Schatteman; MR Brown; Goele Caethoven; F Erwin Offeciers; Thomas Somers; Frank Declau; P Coucke; Paul Van de Heyning; Richard J H Smith; Guy Van Camp
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
American journal of human genetics 2001;68(2):495-500.
2001: Sigrid Wayne; Nahid G Robertson; Frank Declau; N Chen; Kristien Verhoeven; Sai Prasad; L Tranebjärg; Cynthia C Morton; A F Ryan; Guy Van Camp; Richard J H Smith
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
Human molecular genetics 2001;10(3):195-200.
2001: Kirby J Scott; John H Greinwald; David H Darrow; Richard J H Smith
Endobronchial tumors in children: an uncommon clinical entity.
The Annals of otology, rhinology, and laryngology 2001;110(1):63-9.
2001: Els M R De Leenheer; H H Kunst; Wyman T McGuirt; Sai D Prasad; MR Brown; Patrick Huygen; Richard J H Smith; Cor W R J Cremers
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
Archives of otolaryngology--head & neck surgery 2001;127(1):13-7.
2001: Julie M Bork; Linda M Peters; S Riazuddin; Steven L Bernstein; Z M Ahmed; Seth L Ness; R Polomeno; Arabandi Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Zubair M Ahmed; Shaheen N Khan; V M Kaloustian; XC Li; Anil K Lalwani; Sheikh Amer Riazuddin; Maria Bitner-Glindzicz; Walter E Nance; Xue Zhong Liu; G Wistow; Richard J H Smith; Andrew J Griffith; Edward R Wilcox; Thomas B Friedman; Robert J Morell
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
American journal of human genetics 2001;68(1):26-37.
2000: Sai Prasad; Robert A Cucci; Glenn E Green; Richard J H Smith
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
Human mutation 2000;16(6):502-8.
2000: Lisa M Astuto; Michael D Weston; C A Carney; Denise M Hoover; Cor W R J Cremers; Michiel Wagenaar; CG Moller; Richard J H Smith; S Pieke-Dahl; J Greenberg; Rajkumar Ramesar; SG Jacobson; C Ayuso; John R Heckenlively; M Tamayo; M B Gorin; William Reardon; William J Kimberling
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
American journal of human genetics 2000;67(6):1569-74.
2000: Nancy M Bauman; Warren P Bishop; Anthony D Sandler; Richard J H Smith
Value of pH probe testing in pediatric patients with extraesophageal manifestations of gastroesophageal reflux disease: a retrospective review.
The Annals of otology, rhinology & laryngology. Supplement 2000;184():18-24.
2000: Glenn E Green; Richard J H Smith; John Bent; ES Cohn
Genetic testing to identify deaf newborns.
JAMA : the journal of the American Medical Association 2000;284(10):1245.
2000: Kristien Verhoeven; T Fagerheim; Sai Prasad; Sigrid Wayne; F De Clau; Wendy Balemans; Margriet Verstreken; Isabelle Schatteman; B Solem; Paul Van de Heyning; L Tranebjärg; Richard J H Smith; Guy Van Camp
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
Human genetics 2000;107(1):7-11.
2000: Daryl A Scott; R Wang; Trisha Kreman; Michael Andrews; J M McDonald; Jeffrey R Bishop; Richard J H Smith; Lawrence P Karniski; Val C Sheffield
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Human molecular genetics 2000;9(11):1709-15.
2000: G Van Camp; Richard J H Smith
Maternally inherited hearing impairment.
Clinical genetics 2000;57(6):409-14.
2000: Elaine L Bearer; Arthur F Chen; AH Chen; Z Li; Hon Fong L Mark; Richard J H Smith; C L Jackson
2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4.
Annals of human genetics 2000;64(Pt 3):189-96.
2000: Daryl A Scott; Stacy Drury; R A Sundstrom; Jeffrey R Bishop; Ruth E Swiderski; Rivka Carmi; Arabandi Ramesh; Khalil Elbedour; Srikumari Srisailapathy; Bronya J B Keats; Val C Sheffield; Richard J H Smith
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.
Gene 2000;246(1-2):265-74.
2000: Michael D Weston; James D Eudy; S Fujita; S Yao; Shin-ichi Usami; Cor W R J Cremers; J Greenberg; Rajkumar Ramesar; martini alessandro; CG Moller; Richard J H Smith; Janos Sumegi; William J Kimberling; J Greenburg
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
American journal of human genetics 2000;66(4):1199-210.
2000: A I Jun; Wyman T McGuirt; R Hinojosa; Glenn E Green; N Fischel-Ghodsian; Richard J H Smith
Temporal bone histopathology in connexin 26-related hearing loss.
The Laryngoscope 2000;110(2 Pt 1):269-75.
2000: Glenn E Green; Nancy M Bauman; Richard J H Smith
Pathogenesis and treatment of juvenile onset recurrent respiratory papillomatosis.
Otolaryngologic clinics of North America 2000;33(1):187-207.
2000: Robert A Cucci; Sai Prasad; Philip M Kelley; Glenn E Green; Katrien Storm; S Willocx; ES Cohn; Guy Van Camp; Richard J H Smith
The M34T allele variant of connexin 26.
Genetic testing 2000;4(4):335-44.
2000: AH Chen; Kunihiro Fukushima; Wyman T McGuirt; Richard J H Smith
DFNB15: autosomal recessive non-syndromic hearing loss gene-chromosome 3q, 19p or digenic recessive inheritance?
Advances in oto-rhino-laryngology 2000;56():171-5.
2000: Kunihiro Fukushima; Y Ueki; Richard J H Smith
Sensorineural hearing impairment, non-syndromic: DFNB5, 6, 7. Homozygosity mapping to localize genes causing autosomal recessive non-syndromic hearing loss.
Advances in oto-rhino-laryngology 2000;56():152-7.
2000: Wyman T McGuirt; Marci M Lesperance; E R Wilcox; AH Chen; Guy Van Camp; Richard J H Smith
Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.
Advances in oto-rhino-laryngology 2000;56():84-96.
2000: Guy Van Camp; Paul J Coucke; Peter Van Hauwe; Lut Van Laer; Kristien Verhoeven; Floris L Wuyts; Richard J H Smith
DFNA 2, 5, 8, 12.
Advances in oto-rhino-laryngology 2000;56():68-77.
1999: Wyman T McGuirt; Richard J H Smith
Connexin 26 as a cause of hereditary hearing loss.
American journal of audiology 1999;8(2):93-100.
1999: Wyman T McGuirt; Sai D Prasad; Andrew J Griffith; Henricus P M Kunst; Glenn E Green; Karl B Shpargel; C Runge; C Huybrechts; Robert F Mueller; E Lynch; Mary-Claire King; H G Brunner; Cor W R J Cremers; M Takanosu; S W Li; M Arita; Richard Mayne; D J Prockop; Guy Van Camp; Richard J H Smith
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
Nature genetics 1999;23(4):413-9.
1999: D R Olney; John H Greinwald; Richard J H Smith; Nancy M Bauman
Laryngomalacia and its treatment.
The Laryngoscope 1999;109(11):1770-5.
1999: Richard J H Smith; Guy Van Camp
Non-syndromic hearing impairment: gene linkage and cloning.
International journal of pediatric otorhinolaryngology 1999;49 Suppl 1():S159-63.
1999: Richard J H Smith; Guy Van Camp
Cloning genes for non-syndromal hearing impairment.
British journal of audiology 1999;33(5):271-8.
1999: Jose M Manaligod; Nancy M Bauman; Arnold H Menezes; Richard J H Smith
Cervical vertebral anomalies in patients with anomalies of the head and neck.
The Annals of otology, rhinology, and laryngology 1999;108(10):925-33.
1999: J M Dutton; Kelli L Goss; Kavita R Khubchandani; C D Shah; Richard J H Smith; Jeanne M Snyder
Surfactant protein A in rabbit sinus and middle ear mucosa.
The Annals of otology, rhinology, and laryngology 1999;108(10):915-24.
1999: John H Greinwald; Diane K Burke; Yutaka Sato; R I Poust; K Kimura; Nancy M Bauman; Richard J H Smith
Treatment of lymphangiomas in children: an update of Picibanil (OK-432) sclerotherapy.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1999;121(4):381-7.
1999: Lut Van Laer; Wyman T McGuirt; T Yang; Richard J H Smith; Guy Van Camp
Autosomal dominant nonsyndromic hearing impairment.
American journal of medical genetics 1999;89(3):167-74.
1999: R A Sundstrom; L Van Laer; Guy Van Camp; Richard J H Smith
Autosomal recessive nonsyndromic hearing loss.
American journal of medical genetics 1999;89(3):123-9.
1999: Erik Fransen; Margriet Verstreken; Wim I M Verhagen; Floris L Wuyts; Patrick Huygen; P D'Haese; Nahid G Robertson; Cynthia C Morton; Wyman T McGuirt; Richard J H Smith; Frank Declau; Paul H Van De Heyning; Guy Van Camp
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
Human molecular genetics 1999;8(8):1425-9.
1999: Guy Van Camp; Henricus P M Kunst; Kris Flothmann; Wyman T McGuirt; Jan Wauters; Henri Marres; Margriet Verstreken; Irina N Bespalova; Margit Burmeister; Paul H Van De Heyning; Richard J H Smith; Patrick J Willems; Cor W R J Cremers; Marci M Lesperance
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.
Journal of medical genetics 1999;36(7):532-6.
1999: Paul J Coucke; Peter Van Hauwe; P M Kelley; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; J Meyers; Robbert J H Ensink; Margriet Verstreken; Frank Declau; Henri Marres; K Kastury; S Bhasin; Wyman T McGuirt; Richard J H Smith; Cor W R J Cremers; Paul Van de Heyning; Patrick J Willems; Shelley D Smith; Guy Van Camp
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics 1999;8(7):1321-8.
1999: Kunihiro Fukushima; Norio Kasai; Y Ueki; Kazunori Nishizaki; Kennichi Sugata; S Hirakawa; A Masuda; Mehmet Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; Guy Van Camp; Richard J H Smith
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
American journal of human genetics 1999;65(1):141-50.
1999: Glenn E Green; Daryl A Scott; Joshua M McDonald; George G Woodworth; Val C Sheffield; Richard J H Smith
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
JAMA : the journal of the American Medical Association 1999;281(23):2211-6.
1999: Paul J Coucke; Peter Van Hauwe; LA Everett; O Demirhan; Y Kabakkaya; N L Dietrich; Richard J H Smith; E Coyle; William Reardon; Richard C Trembath; Patrick J Willems; Eric Green; Guy Van Camp
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Journal of medical genetics 1999;36(6):475-7.
1999: John H Greinwald; Diane K Burke; Daniel J Bonthius; Nancy M Bauman; Richard J H Smith
An update on the treatment of hemangiomas in children with interferon alfa-2a.
Archives of otolaryngology--head & neck surgery 1999;125(1):21-7.
1999: MM Beaty; J S Wilson; Richard J H Smith
Laryngeal motion during exercise.
The Laryngoscope 1999;109(1):136-9.
1998: Lut Van Laer; Egbert H Huizing; Margriet Verstreken; Diederick van Zuijlen; Jan Wauters; P J Bossuyt; Paul Van de Heyning; Wyman T McGuirt; Richard J H Smith; Patrick J Willems; P Kevin Legan; Guy P Richardson; Guy Van Camp
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Nature genetics 1998;20(2):194-7.
1998: Richard J H Smith; C Schwartz
Branchio-oto-renal syndrome.
Journal of communication disorders 1998;31(5):411-20; quiz 421.
1998: L A Mankarious; Richard J H Smith
External rhinoplasty approach for extirpation and immediate reconstruction of congenital midline nasal dermoids.
The Annals of otology, rhinology, and laryngology 1998;107(9 Pt 1):786-9.
1998: Daryl A Scott; John H Greinwald; JR Marietta; Stacy Drury; Ruth E Swiderski; A Viñas; Margaret DeAngelis; Rivka Carmi; Arabandi Ramesh; ML Kraft; Khalil Elbedour; A B Skworak; R A Friedman; Srikumari Srisailapathy; Kristien Verhoeven; G Van Gamp; Michael Lovett; Prescott L Deininger; Mark A Batzer; Cynthia C Morton; Bronya J B Keats; Richard J H Smith; Val C Sheffield
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.
Gene 1998;215(2):461-9.
1998: Nancy M Bauman; DeQiang Wang; Debra Jaffe; M P Porter; Timothy M McCulloch; Richard J H Smith; Anthony D Sandler
Role of substance P in the laryngeal chemoreflex.
The Annals of otology, rhinology, and laryngology 1998;107(7):575-80.
1998: Peter Van Hauwe; LA Everett; P Coucke; Daryl A Scott; M L Kraft; Carrie Ris Stalpers; CH Bolder; BJ Otten; Jan J M de Vijlder; N L Dietrich; Arabandi Ramesh; S C Srisailapathy; A Parving; Cor W R J Cremers; Patrick J Willems; Richard J H Smith; Eric Green; Guy Van Camp
Two frequent missense mutations in Pendred syndrome.
Human molecular genetics 1998;7(7):1099-104.
1998: John H Greinwald; Sigrid Wayne; AH Chen; Daryl A Scott; RI Zbar; ML Kraft; Sai Prasad; Arabandi Ramesh; P Coucke; Srikumari Srisailapathy; Michael Lovett; Guy Van Camp; Richard J H Smith
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
American journal of medical genetics 1998;78(2):107-13.
1998: P K Jain; Anil K Lalwani; XC Li; T L Singleton; Tenesha N Smith; A Chen; Dilip Deshmukh; I C Verma; Richard J H Smith; Edward R Wilcox
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
Genomics 1998;50(2):290-2.
1998: Kristien Verhoeven; Lut Van Laer; Karin Kirschhofer; P Kevin Legan; David Hughes; Isabelle Schatteman; Margriet Verstreken; Peter Van Hauwe; P Coucke; A Chen; Richard J H Smith; Thomas Somers; F Erwin Offeciers; Paul Van de Heyning; Guy P Richardson; Franz J Wachtler; William J Kimberling; Patrick J Willems; Paul J Govaerts; Guy Van Camp
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Nature genetics 1998;19(1):60-2.
1998: S M Connelly; Richard J H Smith
Effects of rigid plate fixation and subsequent removal on craniofacial growth in rabbits.
Archives of otolaryngology--head & neck surgery 1998;124(4):444-7.
1998: RI Zbar; Arabandi Ramesh; Srikumari Srisailapathy; Kunihiro Fukushima; Sigrid Wayne; Richard J H Smith
Passage to India: the search for genes causing autosomal recessive nonsyndromic hearing loss.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1998;118(3 Pt 1):333-7.
1998: M S Tomek; MR Brown; S R Mani; Arabandi Ramesh; Srikumari Srisailapathy; P Coucke; RI Zbar; Adam M Bell; Wyman T McGuirt; Kunihiro Fukushima; Patrick J Willems; Guy Van Camp; Richard J H Smith
Localization of a gene for otosclerosis to chromosome 15q25-q26.
Human molecular genetics 1998;7(2):285-90.
1998: Daryl A Scott; ML Kraft; Rivka Carmi; Arabandi Ramesh; Khalil Elbedour; Y Yairi; Srikumari Srisailapathy; S S Rosengren; A F Markham; Robert F Mueller; NJ Lench; Guy Van Camp; Richard J H Smith; Val C Sheffield
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human mutation 1998;11(5):387-94.
1998: AH Chen; Robert F Mueller; Sai D Prasad; John H Greinwald; Jose M Manaligod; A C Muilenburg; Kristien Verhoeven; Guy Van Camp; Richard J H Smith
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Archives of otolaryngology--head & neck surgery 1998;124(1):20-4.
1998: Daryl A Scott; ML Kraft; E M Stone; Val C Sheffield; Richard J H Smith
Connexin mutations and hearing loss.
Nature 1998;391(6662):32.
1997: Lut Van Laer; Guy Van Camp; Diederick van Zuijlen; Eric Green; Margriet Verstreken; Isabelle Schatteman; Paul Van de Heyning; Wendy Balemans; P Coucke; John H Greinwald; Richard J H Smith; Egbert H Huizing; P Willems
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.
European journal of human genetics : EJHG 1997;5(6):397-405.
1997: D A Maschka; Nancy M Bauman; P B McCray; Henry T Hoffman; Michael P Karnell; Richard J H Smith
A classification scheme for paradoxical vocal cord motion.
The Laryngoscope 1997;107(11 Pt 1):1429-35.
1997: MR Brown; M S Tomek; L Van Laer; S Smith; J B Kenyon; Guy Van Camp; Richard J H Smith
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
American journal of human genetics 1997;61(4):924-7.
1997: A Chen; Sigrid Wayne; A Bell; Arabandi Ramesh; Srikumari Srisailapathy; Daryl A Scott; Val C Sheffield; P Van Hauwe; RI Zbar; J Ashley; Michael Lovett; Guy Van Camp; Richard J H Smith
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
American journal of medical genetics 1997;71(4):467-71.
1997: John H Greinwald; Daryl A Scott; JR Marietta; Rivka Carmi; Jose M Manaligod; Arabandi Ramesh; RI Zbar; ML Kraft; Khalil Elbedour; Y Yairi; MM Musy; A B Skvorak; Guy Van Camp; Srikumari Srisailapathy; Michael Lovett; Cynthia C Morton; Val C Sheffield; Richard J H Smith
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
Genome research 1997;7(9):879-86.
1997: Nancy M Bauman; Diane K Burke; Richard J H Smith
Treatment of massive or life-threatening hemangiomas with recombinant alpha(2a)-interferon.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1997;117(1):99-110.
1997: K M Carpenter; Scott M Graham; Richard J H Smith
Facial skeletal growth after endoscopic sinus surgery in the piglet model.
American journal of rhinology 1997;11(3):211-7.
1997: Kristien Verhoeven; Guy Van Camp; Paul J Govaerts; Wendy Balemans; Isabelle Schatteman; Margriet Verstreken; Lut Van Laer; Richard J H Smith; MR Brown; Paul H Van De Heyning; Thomas Somers; F Erwin Offeciers; Patrick J Willems
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
American journal of human genetics 1997;60(5):1168-73.
1997: Guy Van Camp; Paul J Coucke; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; Henri Marres; M van Ewijk; Frank Declau; Peter Van Hauwe; J Meyers; J Kenyon; Shelley D Smith; Richard J H Smith; Bulantrisna Djelantik; Cor W R J Cremers; Paul H Van De Heyning; Patrick J Willems
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
Genomics 1997;41(1):70-4.
1997: Guy Van Camp; Patrick J Willems; Richard J H Smith
Nonsyndromic hearing impairment: unparalleled heterogeneity.
American journal of human genetics 1997;60(4):758-64.
1997: P Coucke; Guy Van Camp; O Demirhan; Y Kabakkaya; Wendy Balemans; Peter Van Hauwe; T Van Agtmael; Richard J H Smith; A Parving; CH Bolder; Cor W R J Cremers; Patrick J Willems
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.
Genomics 1997;40(1):48-54.
1997: JR Marietta; KS Walters; R Burgess; L Ni; K Fukushima; Kenneth C Moore; J F Hejtmancik; Richard J H Smith
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
The Annals of otology, rhinology, and laryngology 1997;106(2):123-8.
1996: Nancy M Bauman; Richard J H Smith
Recurrent respiratory papillomatosis.
Pediatric clinics of North America 1996;43(6):1385-401.
1996: Richard J H Smith; Diane K Burke; Y Sato; R I Poust; K Kimura; Nancy M Bauman
OK-432 therapy for lymphangiomas.
Archives of otolaryngology--head & neck surgery 1996;122(11):1195-9.
1996: Sigrid Wayne; Vazken M Der Kaloustian; Melvin D Schloss; R Polomeno; Daryl A Scott; J Fielding Hejtmancik; Val C Sheffield; Richard J H Smith
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
Human molecular genetics 1996;5(10):1689-92.
1996: R Ayyagari; A Nestorowicz; Y Li; Settara C Chandrasekharappa; C Chinault; P van Tuinen; Richard J H Smith; J Fielding Hejtmancik; M A Permutt
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.
Genome research 1996;6(6):504-14.
1996: Marsha E O'Neill; J Marietta; Darryl Nishimura; Sigrid Wayne; Guy Van Camp; L Van Laer; C Negrini; Edward R Wilcox; A Chen; Kunihiro Fukushima; L Ni; Val C Sheffield; Richard J H Smith
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.
Human molecular genetics 1996;5(6):853-6.
1996: Nancy M Bauman; T L Oyos; David J Murray; Simon C Kao; Michael Biavati; Richard J H Smith
Postoperative care following single-stage laryngotracheoplasty.
The Annals of otology, rhinology, and laryngology 1996;105(4):317-22.
1996: RI Zbar; AH Chen; Douglas M Behrendt; E F Bell; Richard J H Smith
Incidence of vocal fold paralysis in infants undergoing ligation of patent ductus arteriosus.
The Annals of thoracic surgery 1996;61(3):814-6.
1996: John Bent; D A Miller; J W Kim; Nancy M Bauman; J S Wilson; Richard J H Smith
Pediatric exercise-induced laryngomalacia.
The Annals of otology, rhinology, and laryngology 1996;105(3):169-75.
1996: RI Zbar; Richard J H Smith
Vocal fold paralysis in infants twelve months of age and younger.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1996;114(1):18-21.
1996: Nancy M Bauman; Anthony D Sandler; Richard J H Smith
Respiratory manifestations of gastroesophageal reflux disease in pediatric patients.
The Annals of otology, rhinology, and laryngology 1996;105(1):23-32.
1995: Guy Van Camp; P Coucke; Wendy Balemans; D Van Velzen; C van de Bilt; Lut Van Laer; Richard J H Smith; K Fukushima; G W Padberg; R R Frants
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
Human molecular genetics 1995;4(11):2159-63.
1995: PD Sawin; M G Muhonen; Y Sato; Richard J H Smith
Aneurysmal bone cyst of the temporal bone presenting as hearing loss in a child.
International journal of pediatric otorhinolaryngology 1995;33(3):275-84.
1995: R Ayyagari; Y Li; Richard J H Smith; Mary Z Pelias; J Fielding Hejtmancik
Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis.
Molecular vision 1995;1():2.
1995: J M Dutton; Phyllis M Palmer; Timothy M McCulloch; Richard J H Smith
Mortality in the pediatric patient with tracheotomy.
Head & neck 1995;17(5):403-8.
1995: Phyllis M Palmer; J M Dutton; Timothy M McCulloch; Richard J H Smith
Trends in the use of tracheotomy in the pediatric patient: the Iowa experience.
Head & neck 1995;17(4):328-33.
1995: Richard J H Smith; Nancy M Bauman; John Bent; M Kramer; W L Smits; R C Ahrens
Exercise-induced laryngomalacia.
The Annals of otology, rhinology, and laryngology 1995;104(7):537-41.
1995: AH Chen; L Ni; Kunihiro Fukushima; J Marietta; M O'Neill; P Coucke; P Willems; Richard J H Smith
Linkage of a gene for dominant non-syndromic deafness to chromosome 19.
Human molecular genetics 1995;4(6):1073-6.
1995: J F Laurenzo; John W Canady; M Bridget Zimmerman; Richard J H Smith
Craniofacial growth in rabbits. Effects of midfacial surgical trauma and rigid plate fixation.
Archives of otolaryngology--head & neck surgery 1995;121(5):556-61.
1995: Simon I Angeli; J Alcalde; Henry T Hoffman; Richard J H Smith
Langerhans' cell histiocytosis of the head and neck in children.
The Annals of otology, rhinology, and laryngology 1995;104(3):173-80.
1995: Michael Biavati; W Edward Wood; Donald B Kearns; Richard J H Smith
One-stage repair of congenital laryngeal webs.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1995;112(3):447-52.
1995: T A Simpson; Richard J H Smith
Amplification of mitochondrial DNA from archival temporal bone specimens.
The Laryngoscope 1995;105(1):28-34.
1995: K B Coppage; Richard J H Smith
Branchio-oto-renal syndrome.
Journal of the American Academy of Audiology 1995;6(1):103-10.
1994: R C Burgess; L Michaels; James F Bale; Richard J H Smith
Polymerase chain reaction amplification of herpes simplex viral DNA from the geniculate ganglion of a patient with Bell's palsy.
The Annals of otology, rhinology, and laryngology 1994;103(10):775-9.
1994: Richard J H Smith; M B Neville; Nancy M Bauman
Interarytenoid notch height relative to the vocal folds. Pilot study.
The Annals of otology, rhinology, and laryngology 1994;103(10):753-7.
1994: D B Bittleman; Richard J H Smith; John M Weiler
Abnormal movement of the arytenoid region during exercise presenting as exercise-induced asthma in an adolescent athlete.
Chest 1994;106(2):615-6.
1994: L Ni; M J Wagner; W J Kimberling; Marcus E Pembrey; K M Grundfast; S Kumar; Stephen P Daiger; Dan E Wells; K Johnson; Richard J H Smith
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.
American journal of medical genetics 1994;51(2):176-84.
1994: D R Endres; Nancy M Bauman; D Burke; Richard J H Smith
Acyclovir in the treatment of recurrent respiratory papillomatosis. A pilot study.
The Annals of otology, rhinology, and laryngology 1994;103(4 Pt 1):301-5.
1994: Richard J H Smith; C I Berlin; J Fielding Hejtmancik; Bronya J B Keats; W J Kimberling; R A Lewis; C G Möller; Mary Z Pelias; L Tranebjaerg
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
American journal of medical genetics 1994;50(1):32-8.
1994: Nancy M Bauman; Anthony D Sandler; C Schmidt; James W Maher; Richard J H Smith
Reflex laryngospasm induced by stimulation of distal esophageal afferents.
The Laryngoscope 1994;104(2):209-14.
1993: M G Gartlan; K L Peterson; Erich S Luschei; Henry T Hoffman; Richard J H Smith
Bipolar hooked-wire electromyographic technique in the evaluation of pediatric vocal cord paralysis.
The Annals of otology, rhinology, and laryngology 1993;102(9):695-700.
1993: M G Gartlan; J Davies; Richard J H Smith
Congenital oral synechiae.
The Annals of otology, rhinology, and laryngology 1993;102(3 Pt 1):186-97.
1992: Richard J H Smith; E C Lee; W J Kimberling; Stephen P Daiger; Mary Z Pelias; Bronya J B Keats; M Jay; A Bird; W Reardon; M Guest
Localization of two genes for Usher syndrome type I to chromosome 11.
Genomics 1992;14(4):995-1002.
1992: Richard J H Smith; K B Coppage; J K Ankerstjerne; D T Capper; S Kumar; J Kenyon; S Tinley; K Comeau; W J Kimberling
Localization of the gene for branchiootorenal syndrome to chromosome 8q.
Genomics 1992;14(4):841-4.
1992: Richard J H Smith; B Zimmerman; P K Connolly; S W Jerger; A Yelich
Screening audiometry using the high-risk register in a level III nursery.
Archives of otolaryngology--head & neck surgery 1992;118(12):1306-11.
1992: Bronya J B Keats; A A Todorov; Larry D Atwood; Mary Z Pelias; J Fielding Hejtmancik; W J Kimberling; M Leppert; Richard Alan Lewis; Richard J H Smith
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.
Genomics 1992;14(3):707-14.
1992: J R Blumer; Nancy M Bauman; D P Kearns; Richard J H Smith
Distal tracheal stenosis in neonates and infants.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1992;107(4):583-90.
1992: Richard J H Smith; K P Steel; C Barkway; S Soucek; L Michaels
A histologic study of nonmorphogenetic forms of hereditary hearing impairment.
Archives of otolaryngology--head & neck surgery 1992;118(10):1085-94.
1992: Richard J H Smith; Mary Z Pelias; Stephen P Daiger; Bronya J B Keats; W Kimberling; J Fielding Hejtmancik
Clinical variability and genetic heterogeneity within the Acadian Usher population.
American journal of medical genetics 1992;43(6):964-9.
1992: P K Connolly; S Jerger; W D Williamson; Richard J H Smith; Gail J Demmler
Evaluation of higher-level auditory function in children with asymptomatic congenital cytomegalovirus infection.
The American journal of otology 1992;13(2):185-93.
1991: Richard J H Smith; F I Catlin
Laryngotracheal stenosis: a 5-year review.
Head & neck 1991;13(2):140-4.
1990: S A Eicher; Newton J Coker; B R Alford; M Igarashi; Richard J H Smith
A comparative study of the fallopian canal at the meatal foramen and labyrinthine segment in young children and adults.
Archives of otolaryngology--head & neck surgery 1990;116(9):1030-5.
1990: J J DuBois; W J Pokorny; F J Harberg; Richard J H Smith
Current management of laryngeal and laryngotracheoesophageal clefts.
Journal of pediatric surgery 1990;25(8):855-60.
1990: LA Ohlms; M S Edwards; Edward O Mason; M Igarashi; B R Alford; Richard J H Smith
Recurrent meningitis and Mondini dysplasia.
Archives of otolaryngology--head & neck surgery 1990;116(5):608-12.
1990: M E Dailey; M P O'Laughlin; Richard J H Smith
Airway compression secondary to left atrial enlargement and increased pulmonary artery pressure.
International journal of pediatric otorhinolaryngology 1990;19(1):33-44.
1989: Richard J H Smith
A DNA linkage study of Usher's syndrome excluding much of chromosome 4.
The Laryngoscope 1989;99(9):940-9.
1989: E M Diaz; J M Adams; H K Hawkins; Richard J H Smith
Tracheal agenesis. A case report and literature review.
Archives of otolaryngology--head & neck surgery 1989;115(6):741-5.
1989: Richard J H Smith; J D Holcomb; Stephen P Daiger; C T Caskey; Mary Z Pelias; B R Alford; D D Fontenot; J Fielding Hejtmancik
Exclusion of Usher syndrome gene from much of chromosome 4.
Cytogenetics and cell genetics 1989;50(2-3):102-6.
1988: L D Robinson; Richard J H Smith; J Rightmire; J M Torpy; D J Fernbach
Head and neck malignancies in children: an age-incidence study.
The Laryngoscope 1988;98(1):11-3.
1987: M E Brock; Richard J H Smith; S E Parey; D L Mobley
Lymphangioma. An otolaryngologic perspective.
International journal of pediatric otorhinolaryngology 1987;14(2-3):133-40.
1987: R Cepero; Richard J H Smith; F I Catlin; K L Bressler; G T Furuta; K C Shandera
Cystic fibrosis--an otolaryngologic perspective.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1987;97(4):356-60.
1987: F I Catlin; Richard J H Smith
Acquired subglottic stenosis in children.
The Annals of otology, rhinology, and laryngology 1987;96(5):488-92.
1987: Richard J H Smith
Laryngotracheal stenosis.
Head & neck surgery 1987;10(1):38-47.