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Mira Irons

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L L Tsai; Laura A Drubach; F Fahey; Mira Irons; S Voss; Nicole J Ullrich
[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.
Michael E Coulter; David J Harris; Pamela Hawley; David T Miller; Jonathan Picker; Amy E Roberts; Magdi M Sobeih; Mira Irons
Chromosomal microarray testing influences medical management.
Nicole J Ullrich; Maryann Zimmerman; Edward Smith; Mira Irons; Karen Marcus; Mark W Kieran
Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.

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All Publications

2012: L L Tsai; Laura A Drubach; F Fahey; Mira Irons; S Voss; Nicole J Ullrich
[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.
Journal of neuro-oncology 2012;108(3):469-75.
2011: Michael E Coulter; David J Harris; Pamela Hawley; David T Miller; Jonathan Picker; Amy E Roberts; Magdi M Sobeih; Mira Irons
Chromosomal microarray testing influences medical management.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(9):770-6.
2011: Nicole J Ullrich; Maryann Zimmerman; Edward Smith; Mira Irons; Karen Marcus; Mark W Kieran
Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.
Journal of child neurology 2011;26(2):228-30.
2010: Nicole J Ullrich; Lauren Ayr; Emily Leaffer; Mira Irons; Celiane Rey-Casserly
Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.
Journal of child neurology 2010;25(10):1195-202.
2010: S U Dhar; Daniela del Gaudio; J R German; Sarika U Peters; Zhishuo Ou; P I Bader; Jonathan S Berg; Maria Blazo; Chester W Brown; Brett H Graham; T A Grebe; Seema R Lalani; Mira Irons; Steven P Sparagana; M Williams; J A Phillips; Arthur L Beaudet; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung; T Sahoo
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
American journal of medical genetics. Part A 2010;152A(3):573-81.
2008: Mira Irons
The genetics clinic: where does the time go?
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(9):657-8.
2007: Yiping Shen; Mira Irons; David T Miller; Sau Wai Cheung; Va Lip; Xiaoming Sheng; Keith Tomaszewicz; Hong Shao; Hong Fang; Hung Siv Tang; Mira Irons; Christopher Walsh; Orah Platt; James Gusella; Bai-Lin Wu
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Clinical chemistry 2007;53(12):2051-9.
2007: Hagit Baris; Wen-Hann Tan; Virginia E Kimonis; Mira Irons
Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
American journal of medical genetics. Part A 2007;143A(21):2523-33.
2007: Nicole J Ullrich; Ali I Raja; Mira Irons; Mark W Kieran; Liliana C Goumnerova
Brainstem lesions in neurofibromatosis type 1.
Neurosurgery 2007;61(4):762-6; discussion 766-7.
2007: Wen-Hann Tan; Hagit Baris; Patricia E Burrows; Caroline D Robson; Ahmad I Alomari; John B Mulliken; Steven J Fishman; Mira Irons
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
Journal of medical genetics 2007;44(9):594-602.
2007: Jodi D Hoffman; Mira Irons; Charles E Schwartz; Livija Medne; Elaine H Zackai
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
American journal of medical genetics. Part A 2007;143A(12):1282-6.
2006: Daniela del Gaudio; Ping Fang; Fernando Scaglia; Patricia A Ward; William J Craigen; Daniel G Glaze; Jeffrey L Neul; Ankita Patel; Jennifer A Lee; Mira Irons; Susan A Berry; Amber Pursley; Theresa A Grebe; Debra Freedenberg; Rick A Martin; Gary E Hsich; Jena R Khera; Neil R Friedman; Huda Y Zoghbi; Christine M Eng; James R Lupski; Arthur L Beaudet; Sau Wai Cheung; Benjamin B Roa
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(12):784-92.
2006: Amy Lawson-Yuen; Sue Ann Berend; Janet S Soul; Mira Irons
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.
Clinical dysmorphology 2006;15(4):217-20.
2006: Hagit Baris; Bassem A Bejjani; Wen-Hann Tan; David L Coulter; Judith A Martin; Andrea L Storm; Barbara K Burton; Sulagna C Saitta; Marzena Gajecka; Blake C Ballif; Mira Irons; Lisa Shaffer; Virginia E Kimonis
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
American journal of medical genetics. Part A 2006;140A(17):1876-9.
2006: Wendy Y Craig; James E Haddow; Glenn E Palomaki; Richard I Kelley; Lisa Kratz; Cedric H L Shackleton; Josep Marcos del Aguila; G Stephen Tint; Andrew R MacRae; Malgorzata J M Nowaczyk; Edward M Kloza; Mira Irons; Marie Roberson
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Prenatal diagnosis 2006;26(9):842-9.
2005: Fowzan S Alkuraya; Jonathan Picker; Mira Irons; Virginia E Kimonis
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Birth defects research. Part A, Clinical and molecular teratology 2005;73(8):569-71.
2005: Keiko Wakui; Giuliana Gregato; Blake C Ballif; Caron D Glotzbach; Kristen A Bailey; Pao-Lin Kuo; Whey-Chen Sue; Leslie J Sheffield; Mira Irons; Enrique G Gomez; Jacqueline T Hecht; Lorraine Potocki; Lisa Shaffer
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
European journal of human genetics : EJHG 2005;13(5):528-40.
2005: Fowzan S Alkuraya; Angela E Lin; Mira Irons; Virginia E Kimonis
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
American journal of medical genetics. Part A 2005;132A(2):226-30.
2004: Reza Rahbar; Biana G Litrovnik; Sara O Vargas; Caroline D Robson; Roger C Nuss; Mira Irons; Trevor J McGill; Gerald B Healy
The biology and management of laryngeal neurofibroma.
Archives of otolaryngology--head & neck surgery 2004;130(12):1400-6.
2004: Mira Irons
Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.
Pediatric research 2004;56(5):679-81.
2004: Amy E Roberts; Mira Irons; Virginia E Kimonis; John B Mulliken; Cynthia C Morton; Charles Lee; Marc Listewnik
Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.
American journal of medical genetics. Part A 2004;130A(2):204-7.
2004: Amy E Roberts; Gerald F Cox; Virginia E Kimonis; Allen Lamb; Mira Irons
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.
American journal of medical genetics. Part A 2004;128A(4):352-63.
2004: Douglas R Stewart; Alina Huang; Francesca Faravelli; Britt-Marie Anderlid; Livija Medne; Karen L Ciprero; Maninder Kaur; Elena Rossi; Romano Tenconi; Magnus Nordenskjöld; Karen W Gripp; Linda Nicholson; Wendy S Meschino; Esther Capua; Oliver W J Quarrell; Jonathon Flint; Mira Irons; Philip F Giampietro; David B Schowalter; Christina Zaleski; Michela Malacarne; Elaine H Zackai; Nancy B Spinner; Ian D Krantz
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
American journal of medical genetics. Part A 2004;128A(4):340-51.
2004: Paul A Caruso; Tina Young Poussaint; A Aria Tzika; D Zurakowski; Loukas G Astrakas; Ellen R Elias; C Bay; Mira Irons
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.
Neuroradiology 2004;46(1):3-14.
2003: Ellen R Elias; Ronald M Hansen; Mira Irons; Nicole B Quinn; Anne B Fulton
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.
Archives of ophthalmology 2003;121(12):1738-43.
2003: C Mueller; S Patel; Mira Irons; K Antshel; G Salen; Stephen G Tint; Carolyn Bay
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
American journal of medical genetics. Part A 2003;123A(1):100-6.
2003: Helga V Toriello; John C Carey; Marie-Claude Addor; William Allen; Leah Burke; Nicole Chun; William B Dobyns; Ellen Elias; Renata Gallagher; Roel Hordijk; Gene Hoyme; Mira Irons; Tamison Jewett; Martine LeMerrer; Mark Lubinsky; Rick Martin; Donna McDonald-McGinn; Luitgard Neumann; William Newman; Richard Pauli; Laurie Seaver; Anna Tsai; David Wargowsky; Marc Williams; Elaine Zackai
Toriello-Carey syndrome: delineation and review.
American journal of medical genetics. Part A 2003;123A(1):84-90.
2003: Bai-Lin Wu; Margaret A Kenna; Va Lip; Mira Irons; Orah Platt
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
American journal of medical genetics. Part A 2003;121A(2):102-8.
2003: Angela E Lin; Sharon F Terry; Barbara Lerner; Rebecca Anderson; Mira Irons
Participation by clinical geneticists in genetic advocacy groups.
American journal of medical genetics. Part A 2003;119A(1):89-92.
2002: Angela E Lin; Paul D Grossfeld; Robert Murray Hamilton; Leslie Smoot; Karen W Gripp; Virginia Proud; Rosanna Weksberg; Patricia Wheeler; Jonathan Picker; Mira Irons; Elaine Zackai; Bradley Marino; Charles I Scott; Linda Nicholson
Further delineation of cardiac abnormalities in Costello syndrome.
American journal of medical genetics 2002;111(2):115-29.
2002: Bai-Lin Wu; Neal Lindeman; Va Lip; Albert Adams; R Stephen Amato; Gerald Cox; Mira Irons; Margaret A Kenna; Bruce Korf; Jay Raisen; Orah Platt
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(4):279-88.
2002: Dechu P Puliyanda; William E Harmon; M Judith Peterschmitt; Mira Irons; Michael J G Somers
Utility of hemodialysis in maple syrup urine disease.
Pediatric nephrology (Berlin, Germany) 2002;17(4):239-42.
2000: G E Hsich; Richard L Robertson; Mira Irons; Janet S Soul; Adré J du Plessis
Cerebral infarction in Menkes' disease.
Pediatric neurology 2000;23(5):425-8.
2000: D Brocks; Mira Irons; A Sadeghi-Najad; R McCauley; P Wheeler
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
American journal of medical genetics 2000;94(5):405-8.
2000: Hongwei Yu; M H Lee; L Starck; Ellen R Elias; Mira Irons; Gerald Salen; Shailendra Patel; Stephen G Tint
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
Human molecular genetics 2000;9(9):1385-91.
1999: Mira Irons; JA Nores; T L Stewart; Sabrina D Craigo; Diana Bianchi; M E D'Alton; Stephen G Tint; G Salen; L A Bradley
Antenatal therapy of Smith-Lemli-Opitz syndrome.
Fetal diagnosis and therapy 1999;14(3):133-7.
1999: Linda A Bradley; Glenn E Palomaki; George J Knight; James E Haddow; J M Opitz; Mira Irons; Richard I Kelley; Stephen G Tint
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.
American journal of medical genetics 1999;82(4):355-8.
1999: T L Stewart; Mira Irons; J M Cowan; Diana Bianchi
Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.
Teratology 1999;59(1):20-2.
1998: Stephen G Tint; DN Abuelo; M Till; Martine Cordier; AK Batta; S Shefer; Akira Honda; M Honda; Guorong Xu; Mira Irons; Ellen R Elias; Gerald Salen
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
Prenatal diagnosis 1998;18(7):651-8.
1998: Mira Irons; Stephen G Tint
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
Prenatal diagnosis 1998;18(4):369-72.
1997: Jeffrey E Ming; Donna M McDonald-McGinn; T E Megerian; Deborah A Driscoll; Ellen R Elias; B M Russell; Mira Irons; Beverly S Emanuel; Richard Markowitz; Elaine H Zackai
Skeletal anomalies and deformities in patients with deletions of 22q11.
American journal of medical genetics 1997;72(2):210-5.
1997: Mira Irons; Ellen R Elias; DN Abuelo; M J Bull; Carol L Greene; V P Johnson; Laura Davis Keppen; C Schanen; Stephen G Tint; Gerald Salen
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
American journal of medical genetics 1997;68(3):311-4.
1997: Ellen R Elias; Mira Irons; A D Hurley; Stephen G Tint; Gerald Salen
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
American journal of medical genetics 1997;68(3):305-10.
1997: Stephen G Tint; AK Batta; Guorong Xu; S Shefer; A Honda; Mira Irons; Ellen R Elias; Gerald Salen
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.
Sub-cellular biochemistry 1997;28():117-44.
1996: Mira Irons; Diana Bianchi; Robert L Geggel; GR Marx; I Bhan
Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
American journal of medical genetics 1996;66(1):69-71.
1996: G Salen; Sarah Shefer; A K Batta; Stephen G Tint; G Xu; Akira Honda; Mira Irons; Ellen R Elias
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
Journal of lipid research 1996;37(6):1169-80.
1995: G Salen; Stephen G Tint; G Xu; A K Batta; Mira Irons; Ellen R Elias
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
The Italian journal of gastroenterology 1995;27(9):506-8.
1995: Ellen R Elias; Mira Irons
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.
Current opinion in pediatrics 1995;7(6):710-4.
1995: Sarah Shefer; G Salen; A K Batta; Akira Honda; Stephen G Tint; Mira Irons; Ellen R Elias; T C Chen; M F Holick
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
The Journal of clinical investigation 1995;96(4):1779-85.
1995: Stephen G Tint; G Salen; A K Batta; Sarah Shefer; Mira Irons; Ellen R Elias; DN Abuelo; V P Johnson; M Lambert; R Lutz
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
The Journal of pediatrics 1995;127(1):82-7.
1994: Mira Irons; Ellen R Elias; Stephen G Tint; G Salen; R Frieden; T M Buie; M Ampola
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
American journal of medical genetics 1994;50(4):347-52.
1994: Stephen G Tint; Mira Irons; Ellen R Elias; A K Batta; R Frieden; T S Chen; G Salen
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
The New England journal of medicine 1994;330(2):107-13.
1993: Mira Irons; Ellen R Elias; G Salen; Stephen G Tint; A K Batta
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
Lancet 1993;341(8857):1414.