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Alan Shanske

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Viktoriya Paroder; Alan L Shanske; Kohei Shiota; Muhammad Naeem Khan; Todd Miller; M Michael Cohen
Letter to the editor: Hidden pituitary gland: implications for assessment.
Alan L Shanske
Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.
Alan L Shanske; Leena Ala-Kokko; Stuart Baker; Barbara Frederick; James Tait Goodrich; Brynn Levy
Germline mosacism in Shprintzen-Goldberg syndrome.

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All Publications

2013: Viktoriya Paroder; Alan L Shanske; Kohei Shiota; Muhammad Naeem Khan; Todd Miller; M Michael Cohen
Letter to the editor: Hidden pituitary gland: implications for assessment.
American journal of medical genetics. Part A 2013;161(3):630-1.
2012: Alan L Shanske
Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.
AIDS (London, England) 2012;26(14):1775-9.
2012: Alan L Shanske; Leena Ala-Kokko; Stuart Baker; Barbara Frederick; James Tait Goodrich; Brynn Levy
Germline mosacism in Shprintzen-Goldberg syndrome.
American journal of medical genetics. Part A 2012;158A(7):1574-8.
2011: Edina Torgyekes; Dorothy Warburton; Odelia Nahum; Sara Pirzadeh; Alan L Shanske; Kwame Anyane-Yeboa; Einat Blumfield; Vaidehi Jobanputra; Brynn Levy
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
American journal of medical genetics. Part A 2011;155A(8):1884-96.
2011: Emily F Kauvar; Ping Hu; Daniel E Pineda-Alvarez; Benjamin D Solomon; Amalia Dutra; Evgenia Pak; Brooke Blessing; Virginia Proud; Alan L Shanske; Cathy A Stevens; Jill A Rosenfeld; Lisa G Shaffer; Erich Roessler; Maximilian Muenke
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Molecular genetics and metabolism 2011;102(4):470-80.
2011: June K Wu; James Tait Goodrich; Chiemezie C Amadi; Todd Miller; John B Mulliken; Alan L Shanske
Interparietal bone (Os Incae) in craniosynostosis.
American journal of medical genetics. Part A 2011;155A(2):287-94.
2010: Alan L Shanske; J Leonard; O Nahum; D L Coppock; B Levy
Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA.
American journal of medical genetics. Part A 2010;152A(12):3185-8.
2010: Dorothy A Frenz; Wei Liu; Ales Cvekl; Qing Xie; Lesley Wassef; Loredana Quadro; Karen Niederreither; Mark Maconochie; Alan L Shanske
Retinoid signaling in inner ear development: A "Goldilocks" phenomenon.
American journal of medical genetics. Part A 2010;152A(12):2947-61.
2010: Alan L Shanske
Introductory comments on special section-new developments in craniofacial biology: putting on a happy face.
American journal of medical genetics. Part A 2010;152A(12):2943-6.
2010: Dennis C Monks; Arthee Jahangir; Alan L Shanske; Joy Samanich; Bernice E Morrow; Melanie Babcock
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
International journal of pediatric otorhinolaryngology 2010;74(8):878-82.
2010: Jidong Shan; Janie Chobot-Rodd; Raquel Castellanos; Melanie Babcock; Alan L Shanske; Sanjay Parikh; Bernice E Morrow; Joy Samanich
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
International journal of pediatric otorhinolaryngology 2010;74(6):611-8.
2010: Avi G Oppenheimer; Susan Fulmer; Keivan Shifteh; Ja Kwei Chang; Allan L Brook; Alan L Shanske; Robert J Shprintzen
Cervical vascular and upper airway asymmetry in Velo-cardio-facial syndrome: correlation of nasopharyngoscopy with MRA.
International journal of pediatric otorhinolaryngology 2010;74(6):619-25.
2010: Alan L Shanske; Naomi Yachelevich; Leena Ala-Kokko; Jay Leonard; Brynn Levy
Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature.
American journal of medical genetics. Part A 2010;152A(1):203-8.
2009: Leena Ala-Kokko; Alan L Shanske
Mosaicism in Marshall syndrome.
American journal of medical genetics. Part A 2009;149A(6):1327-30.
2009: Man Yee Chan; Keivan Shifteh; Alan L Shanske
Mesiodens, a new microform of holoprosencephaly?
American journal of medical genetics. Part A 2009;149A(2):268-71.
2009: Tova C Fischer; Joy Samanich; Bernice E Morrow; Janie Chobot-Rodd; Alan L Shanske; Sanjay Parikh
Genetic evaluation of American minority pediatric cochlear implant recipients.
International journal of pediatric otorhinolaryngology 2009;73(2):195-203.
2008: Alan L Shanske; Ankita Patel; Sou Saukam; Brynn Levy; Hermann-Josef Lüdecke
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
American journal of medical genetics. Part A 2008;146A(24):3211-6.
2008: Wei Liu; Lijun Li; Geming Li; Frank Garritano; Alan L Shanske; Dorothy A. Frenz
Coordinated molecular control of otic capsule differentiation: functional role of Wnt5a signaling and opposition by sfrp3 activity.
Growth factors (Chur, Switzerland) 2008;26(6):343-54.
2008: Alan L Shanske; David A Staffenberg; James Tait Goodrich
Sacral appendage in a child with an FGFR2 mutation: a report and review.
American journal of medical genetics. Part A 2008;146A(16):2172-5.
2008: Wei Liu; Giovanni Levi; Alan L Shanske; Dorothy A. Frenz
Retinoic acid-induced inner ear teratogenesis caused by defective Fgf3/Fgf10-dependent Dlx5 signaling.
Birth defects research. Part B, Developmental and reproductive toxicology 2008;83(2):134-44.
2008: Dwight R Cordero; Claude Bendavid; Alan L Shanske; Bassem R Haddad; Maximilian Muenke
Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
European journal of medical genetics 2008;51(2):106-12.
2007: Emily S Doherty; Felicitas Lacbawan; Donald W Hadley; Carmen Brewer; Christopher K Zalewski; H Jeff Kim; Beth Solomon; Kenneth Rosenbaum; Demetrio L Domingo; Thomas Hart; Brian P Brooks; Ladonna Immken; R Brian Lowry; Virginia E Kimonis; Alan L Shanske; Fernanda Sarquis Jehee; Maria Rita Passos Bueno; Carol Knightly; Donna McDonald-McGinn; Elaine H Zackai; Maximilian Muenke
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
American journal of medical genetics. Part A 2007;143A(24):3204-15.
2007: Alan L Shanske; Larry Bernstein; Ronit Herzog
Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.
Pediatrics 2007;120(2):e436-41.
2007: Pooja Gidwani; Eric Segal; Alan L Shanske; M. Catherine Driscoll
Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome.
American journal of medical genetics. Part A 2007;143A(12):1338-41.
2007: Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S Alkuraya; Diana J Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G Campbell; Alan L Shanske; Elliott H Sherr; Ayesha Ahmad; Roxana Peters; Bénédict Rilliet; Paloma Parvex; Alexander G Bassuk; David J Harris; Heather Ferguson; Chantal Kelly; Christopher Walsh; Richard M Gronostajski; koenraad devriendt; Anne Higgins; Azra H Ligon; Bradley J Quade; Cynthia C Morton; James Gusella; Richard L Maas
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics 2007;3(5):e80.
2007: Joy Samanich; Christina Lowes; Robert D Burk; Sara Shanske; J Lu; Alan L Shanske; Bernice E Morrow
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
American journal of medical genetics. Part A 2007;143A(8):830-8.
2007: Michael Leipoldt; Martin Erdel; Gabriel A Bien-Willner; Marta Smyk; Markus Theurl; Svetlana A Yatsenko; James R Lupski; Andrew lane; Alan L Shanske; Pawel Stankiewicz; Gerd Scherer
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
Clinical genetics 2007;71(1):67-75.
2007: Alan L Shanske; Mala Puri; Barbara Marshall; Paul Saenger
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
Hormone research 2007;67(2):61-6.
2006: Paul T Jubinsky; Alan L Shanske; Fiona J Pixley; Cristina Montagna; Mary K Short
A syndrome of holoprosencephaly, recurrent infections, and monocytosis.
American journal of medical genetics. Part A 2006;140(24):2742-8.
2006: Vimla S Aggarwal; Jun Liao; Alexei Bondarev; Thomas Schimmang; Mark Lewandoski; Joseph Locker; Alan L Shanske; Marina Campione; Bernice E Morrow
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
Human molecular genetics 2006;15(21):3219-28.
2006: Mary King; Jelena S Arnold; Alan L Shanske; Bernice E Morrow
T-genes and limb bud development.
American journal of medical genetics. Part A 2006;140(13):1407-13.
2006: Anthony L Maganzini; Andrea Rios; Alan L Shanske
Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report.
The New York state dental journal 2006;72(4):34-7.
2006: Claude Bendavid; Bassem R Haddad; A Griffin; Marjan Huizing; Christèle Dubourg; Isabelle Gicquel; Luciane Cavalli; Laurent Pasquier; Alan L Shanske; R Long; Maia V Ouspenskaia; Sylvie Odent; Felicitas Lacbawan; Véronique David; Maximilian Muenke
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Journal of medical genetics 2006;43(6):496-500.
2006: Alan L Shanske
Trisomy 18 in a second 20-year-old woman.
American journal of medical genetics. Part A 2006;140(9):966-7.
2005: Daniela Iacoboni; Barry M Karpel; Alan L Shanske; Robert W Marion; Susan J Gross
Prenatal diagnosis of marshall syndrome by targeted sonography.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2005;24(12):1735-7.
2005: Deborah McDermott; Michael C Bressan; Jie He; Joseph S Lee; Salim Aftimos; Martina Brueckner; Fred Gilbert; Gail E Graham; Mark C Hannibal; Jeffrey W Innis; Mary Ella Pierpont; Annick Raas-Rothschild; Alan L Shanske; Wendy E Smith; Robert H Spencer; Martin St John Sutton; Lionel Van Maldergem; Darrel J Waggoner; Matthew Weber; Craig T Basson
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
Pediatric research 2005;58(5):981-6.
2005: Gudrun A Rappold; Alan L Shanske; Paul Saenger
All shook up by SHOX deficiency.
The Journal of pediatrics 2005;147(4):422-4.
2005: Stacey K H Tay; Sara Shanske; Carol Crowe; Alan L Shanske; Irwin Schafer; Jacklyn Pancrudo; Jiesheng Lu; Eduardo Bonilla; Salvatore DiMauro
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
Journal of child neurology 2005;20(2):142-6.
2004: Alan L Shanske; L Edelmann; N B Kardon; P Gosset; B Levy
Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.
American journal of medical genetics. Part A 2004;131(1):29-35.
2004: Alan L Shanske; S A Hoper; K Krahn; Brian C Schutte
Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.
American journal of medical genetics. Part A 2004;128A(4):431-3.
2003: Elizabeth Spiteri; Melanie Babcock; Catherine D Kashork; Keiko Wakui; Swarna Gogineni; Debbie A Lewis; Kisa M Williams; Shinsei Minoshima; Takashi Sasaki; Nobuyoshi Shimizu; Lorraine Potocki; Venkat Pulijaal; Alan L Shanske; Lisa Shaffer; Bernice E Morrow
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.
Human molecular genetics 2003;12(15):1823-37.
2003: Alan L Shanske; Sumati Pande; Karim Aref; Carlos Vega-Rich; Luc Brion; Sandra Reznik; Ilan E Timor-Tritsch
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.
Birth defects research. Part A, Clinical and molecular teratology 2003;67(6):467-71.
2003: Siobhan M Dolan; Alan L Shanske; Robert W Marion; Susan J Gross
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature.
Prenatal diagnosis 2003;23(2):138-42.
2003: Daniel H Cohn; Nadia Ehtesham; Deborah Krakow; Sheila Unger; Alan L Shanske; Kent Reinker; Berkley R Powell; David L Rimoin
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
American journal of human genetics 2003;72(2):419-28.
2002: June Wu; David A Staffenberg; John B Mulliken; Alan L Shanske
Diprosopus: a unique case and review of the literature.
Teratology 2002;66(6):282-7.
2002: Amanda M Jacobs; Ivanka Toudjarska; Andrew D Racine; Petros Tsipouras; Michael W Kilpatrick; Alan L Shanske
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
Archives of pediatrics & adolescent medicine 2002;156(11):1081-5.
2002: Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan L Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
American journal of human genetics 2002;71(4):947-51.
2002: Alan L Shanske; Robert W Marion
Mosaic trisomy of a small r(1) with an abnormal phenotype.
American journal of medical genetics 2002;110(4):413; author reply 414.
2002: Alan L Shanske; Judith Gurland; Joyce N Mbekeani; Jacqueline A Bello; Deborah Campbell; sylvain kleinhaus
Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome.
Clinical dysmorphology 2002;11(1):67-9.
2001: Alan L Shanske; S Shanske; S DiMauro
The other human genome.
Archives of pediatrics & adolescent medicine 2001;155(11):1210-6.
2001: Alan L Shanske; Jose Carlos Ferreira; J C Leonard; P Fuller; Robert W Marion
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
American journal of medical genetics 2001;102(3):231-6.
2001: D N Schweitzer; John M Graham; Ralph S Lachman; Ethylin Jabs; K Okajima; KA Przylepa; Alan L Shanske; K Chen; Julie Neidich; William R Wilcox
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
American journal of medical genetics 2001;98(1):75-91.
2001: L Edelmann; Elizabeth Spiteri; K Koren; Venkat Pulijaal; M G Bialer; Alan L Shanske; R Goldberg; Bernice E Morrow
AT-rich palindromes mediate the constitutional t(11;22) translocation.
American journal of human genetics 2001;68(1):1-13.
1999: Hillary Raynes; Alan L Shanske; Sharon Goldberg; R Burde; Isabelle Rapin
Joubert syndrome: monozygotic twins with discordant phenotypes.
Journal of child neurology 1999;14(10):649-54; discussion 669-72 discussio.
1999: Alan L Shanske; P Dowling; R Schmidt; B J White; Barbara Russell; A Bogdanow; Robert W Marion
Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins.
Journal of medical genetics 1999;36(8):625-8.
1999: Birgit Funke; L Edelmann; N McCain; RK Pandita; Jose Carlos Ferreira; Sandra Merscher-gomez; M Zohouri; Linda Cannizzaro; Alan L Shanske; Bernice E Morrow
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
American journal of human genetics 1999;64(3):747-58.
1999: Maryann L Huie; Alan L Shanske; JS Kasper; Robert W Marion; Rochelle Hirschhorn
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).
Human genetics 1999;104(1):94-8.
1999: Alan L Shanske; J Ellison; Patricia Vuguin; P Dowling; E Wasserman; J Heinrich; Paul Saenger
Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.
American journal of medical genetics 1999;82(1):34-9.
1998: Alan L Shanske; I Sachmechi; D K Patel; A Bishnoi; F Rosner
An adult with 49,XYYYY karyotype: case report and endocrine studies.
American journal of medical genetics 1998;80(2):103-6.
1998: Alan L Shanske; A Bogdanow; RJ Shprintzen; Robert W Marion
Marshall syndrome and a defect at the COL11A1 locus.
American journal of human genetics 1998;63(5):1558-61.
1998: Alan L Shanske; H Grunwald; P Cook; Nora Heisterkamp; John Groffen
Philadelphia-negative chronic myelogenous leukemia in a patient with a unique complex translocation: 46,XY,t(9;12;15)(q34;12;q21).
Leukemia research 1998;22(7):645-8.
1998: Susan Sklower Brooks; Marilyn Genovese; Hong Gu; C J Duncan; Alan L Shanske; Edmund C. Jenkins
Normal adaptive function with learning disability in duplication 8p including band p22.
American journal of medical genetics 1998;78(2):114-7.
1998: Alan L Shanske; Robert W Marion
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature.
American journal of medical genetics 1998;77(3):250.
1997: Alan L Shanske; D G Caride; L Menasse-Palmer; A Bogdanow; Robert W Marion
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature.
American journal of medical genetics 1997;70(2):155-8.
1997: Alan L Shanske; A Bogdanow; RJ Shprintzen; Robert W Marion
The Marshall syndrome: report of a new family and review of the literature.
American journal of medical genetics 1997;70(1):52-7.
1997: K Paticoff; Robert W Marion; RJ Shprintzen; Alan L Shanske; Sidney Eisig
Hemimaxillofacial dysplasia: a report of two new cases and further delineation of the disorder.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 1997;83(4):484-8.
1997: M el-Schahawi; A López de Munain; A M Sarrazin; Alan L Shanske; M Basirico; Sara Shanske; Salvatore DiMauro
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.
Neurology 1997;48(2):453-6.
1996: Peter S Bernstein; Susan J Gross; D J Cohen; G R Tiller; Alan L Shanske; A T Bombard; Robert W Marion
Prenatal diagnosis of type 2 Pfeiffer syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 1996;8(6):425-8.
1996: Alan L Shanske; A Kalman; H Grunwald
A myeloproliferative disorder with eosinophilia associated with a unique translocation (3;5).
British journal of haematology 1996;95(3):524-6.
1996: N C Chiu; W H Qian; Alan L Shanske; S S Brooks; Rose-Mary N Boustany
A common mutation site in the beta-galactosidase gene originates in Puerto Rico.
Pediatric neurology 1996;14(1):53-6.
1993: Alan L Shanske; S Shanske; G Silvestri; K Tanji; D Wertheim; S Lipper
MELAS point mutation with unusual clinical presentation.
Neuromuscular disorders : NMD 1993;3(3):191-3.
1993: Constance M Barone; Robert W Marion; Alan L Shanske; R V Argamaso; R J Shprintzen
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3.
American journal of medical genetics 1993;45(6):745-50.
1993: M P Alvarez; P V Crespi; Alan L Shanske
Natal molars in Pfeiffer syndrome type 3: a case report.
The Journal of clinical pediatric dentistry 1993;18(1):21-4.
1991: Joseph Maytal; Alan L Shanske; Joyce Fox; S Lipper; Lydia Eviatar
Duchenne muscular dystrophy in a girl identified by dystrophin deficiency.
Neuropediatrics 1991;22(3):163-5.
1982: Alan L Shanske; M Baden; M Fernando; E Valderrama
A possible lethal variant of metatropic dwarfism.
Birth defects original article series 1982;18(3B):135-44.