M. Irons

发表

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome

L. Shaffer, B. Ballif, L. Potocki, 2002, European Journal of Human Genetics.

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

Yiping Shen, Sandra Friedman, Bai-Lin Wu, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Chromosomal microarray testing influences medical management

Michael E. Coulter, David T. Miller, D. Harris, 2011, Genetics in Medicine.

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

W. Reardon, H. Brunner, F. Luyten, 1997, Nature Genetics.

Pilot Study of a Novel Computerized Task to Assess Spatial Learning in Children and Adolescents With Neurofibromatosis Type 1

N. Ullrich, C. Rey-Casserly, M. Irons, 2010, Journal of child neurology.

ACMG practice guideline: Genetic evaluation of short stature

L. Seaver, M. Irons, 2009, Genetics in Medicine.

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

A. Honda, M. Holick, G. Tint, 1995, The Journal of clinical investigation.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

D. Rimoin, I. Holm, C. Bacino, 2009, American journal of human genetics.

Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.

Edward R. Smith, R. Scott, N. Ullrich, 2013, Journal of neurosurgery. Pediatrics.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, Ankita Patel, 2010 .

Toriello–Carey syndrome: Delineation and review

Marc S. Williams, E. Zackai, W. Newman, 2003, American journal of medical genetics. Part A.

The call from the newborn screening laboratory: frustration in the afternoon.

W. Rhead, M. Irons, 2004, Pediatric clinics of North America.

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.

A. Stark, H. Levy, D. Marsden, 2001, Pediatrics.

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.

M. Seller, D. Genest, G. Tint, 1995, Journal of lipid research.

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS)

R. Hansen, A. Fulton, A. Moskowitz, 2010, Documenta Ophthalmologica.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

G. Tint, A. Batta, G. Salen, 1995, The Italian journal of gastroenterology.

The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.

A. Honda, G. Tint, A. Batta, 1997, Sub-cellular biochemistry.

Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology

M. Nowaczyk, M. Irons, Małgorzata J. M. Nowaczyk, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Further delineation of cardiac abnormalities in Costello syndrome.

E. Zackai, R. Weksberg, B. Marino, 2002, American journal of medical genetics.

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

G. Tint, A. Batta, G. Salen, 1993, The Lancet.

Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.

P. Wheeler, M. Irons, D. Brocks, 2000, American journal of medical genetics.

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.

K. Jenkins, A. Roberts, J. Leopold, 2017, Congenital heart disease.

Antenatal Therapy of Smith-Lemli-Opitz Syndrome

S. Craigo, M. D'Alton, L. Bradley, 1999, Fetal Diagnosis and Therapy.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

BRAINSTEM LESIONS IN NEUROFIBROMATOSIS TYPE 1

L. Goumnerova, M. Kieran, N. Ullrich, 2007, Neurosurgery.

Multicolour karyotyping

C. Morton, L. Wilkins-Haug, P. Miron, 2001, The Lancet.

Abnormal cholesterol metabolism in Smith‐Lemli‐Opitz syndrome

M. Irons, E. Elias, 1995, Current opinion in pediatrics.

Pitt–Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR‐X phenotype

C. Schwartz, W. Tan, M. Irons, 2011, Clinical genetics.

Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.

R. Hansen, A. Fulton, N. Quinn, 2003, Archives of ophthalmology.

Competencies for the physician medical geneticist in the 21st century

B. Korf, M. Watson, M. Irons, 2011, Genetics in Medicine.

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

V. P. Johnson, M. Lambert, G. Tint, 1995, The Journal of pediatrics.

Skeletal anomalies and deformities in patients with deletions of 22q11.

E. Zackai, R. Markowitz, B. Emanuel, 1997, American journal of medical genetics.

Abnormal cholesterol biosynthesis in the Smith = Lem I i-0 pi tz sy nd rome

A. Honda, Guorong Xu, G. Tint, 1996 .

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

J. Mulliken, C. Robson, H. Baris, 2007, Journal of Medical Genetics.

Metabolic syndromes with dermatologic manifestations

H. Levy, M. Irons, 1986, Clinical reviews in allergy.

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.

J. Opitz, J. Haddow, G. Knight, 1999, American journal of medical genetics.

Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.

G. Marx, D. Bianchi, R. Geggel, 1996, American journal of medical genetics.

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

G Salen, A K Batta, G S Tint, 1994, The New England journal of medicine.

Copy number variation plays an important role in clinical epilepsy

F. Duffy, Yiping Shen, David T. Miller, 2014, Annals of neurology.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Ankita Patel, J. Lupski, S. Cheung, 2006, Genetics in Medicine.

Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1

L. Goumnerova, M. Kieran, A. Huttner, 2010, Pediatric blood & cancer.

Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement

F. Alkuraya, V. Kimonis, A. Lin, 2005, American journal of medical genetics. Part A.

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

V. Kimonis, A. Roberts, A. Lamb, 2004, American journal of medical genetics. Part A.

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

S. Cheung, C. Walsh, Yiping Shen, 2007, Clinical chemistry.

Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting

V. Kimonis, H. Baris, W. Tan, 2007, American journal of medical genetics. Part A.

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.

M. Proctor, N. Ullrich, A. Danehy, 2013, Journal of neurosurgery. Pediatrics.

The biology and management of laryngeal neurofibroma.

C. Robson, G. Healy, R. Rahbar, 2004, Archives of otolaryngology--head & neck surgery.

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

L. Shaffer, B. Ballif, B. Bejjani, 2006, American journal of medical genetics. Part A.

Human Genetics and Genomics

Bruce R. Korf, B. Korf, Mira Irons, 2006 .

Glycogen Storage Diseases

M. Irons, E. Elias, 2000 .

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Folinic acid therapy in treatment of dihydropteridine reductase deficiency.

S. Milstien, S. Kaufman, P. Langlais, 1987, The Journal of pediatrics.

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

M. Listewnik, J. Mulliken, C. Morton, 2004, American Journal of Medical Genetics. Part A.

Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease

K. Antshel, G Salen, G S Tint, 2003, American journal of medical genetics. Part A.

Fetal Smith‐Lemli‐Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols

A. Honda, M. Till, Guorong Xu, 1998, Prenatal diagnosis.

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

T. Buie, G. Tint, G. Salen, 1994, American journal of medical genetics.

Genetic biochemical disorders: by P. F. Benson and A. H. Fensom, Oxford University Press, 1985. £55.00 (xx + 692 pages) ISBN 0 19 261193 3)

H. Levy, M. Irons, 1986 .

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

O. Platt, Bai-Lin Wu, V. Lip, 2003, American journal of medical genetics. Part A.

Focused Revision: ACMG practice resource: Genetic evaluation of short stature

L. Seaver, M. Irons, A. Grimberg, 2021, Genetics in Medicine.

Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.

D. Bianchi, J. Cowan, M. Irons, 1999, Teratology.

Screening for metabolic disorders. How are we doing?

M. Irons, Mira Irons, 1993, Pediatric clinics of North America.

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome

L. Astrakas, D. Zurakowski, A. Tzika, 2004, Neuroradiology.

Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

J. Haddow, G. Palomaki, M. Nowaczyk, 2006, Prenatal diagnosis.

Utility of hemodialysis in maple syrup urine disease

M. Somers, M. Irons, M. Peterschmitt, 2002, Pediatric Nephrology.

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Hongwei Yu, Shailendra B. Patel, G Salen, 2000, Human molecular genetics.

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

V. P. Johnson, M. Bull, G. Tint, 1997, American journal of medical genetics.

Cholesterol in Childhood: Friend or Foe?: Commentary on the article by Merkens et al. on page 726

M. Irons, 2004, Pediatric Research.

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

G Salen, G S Tint, G. Tint, 1997, American journal of medical genetics.

Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome

S. Kothare, M. Żarowski, M. Irons, 2011, American journal of medical genetics. Part A.

Prenatal diagnosis of Smith–Lemli–Opitz syndrome

G. Tint, M. Irons, Mira Irons, 1998, Prenatal diagnosis.

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

J. Soul, M. Irons, S. A. Berend, 2006, Clinical dysmorphology.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

A. Honda, G. Tint, A. Batta, 1996, Journal of lipid research.

Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.

H. Levy, S. Pueschel, M. Irons, 1985, The Journal of pediatrics.

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

Va Lip, Margaret Kenna, Bai-Lin Wu, 2002, Genetics in Medicine.

A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes

E. Zackai, L. Medne, J. Hoffman, 2007, American journal of medical genetics. Part A.

Association of Rapidly Progressive Moyamoya Syndrome With Bevacizumab Treatment for Glioblastoma in a Child With Neurofibromatosis Type 1

M. Kieran, N. Ullrich, K. Marcus, 2011, Journal of child neurology.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, S. Cheung, 2010 .

Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis

M. Irons, 2003, Current opinion in pediatrics.

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

F. Alkuraya, V. Kimonis, J. Picker, 2005, Birth defects research. Part A, Clinical and molecular teratology.

DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME. AUTHORS' REPLY

K. Mills, P. Clayton, D. Donnai, 1994 .

The biology and management of laryngeal neurofibroma.

C. Robson, G. Healy, R. Rahbar, 2004, Archives of otolaryngology--head & neck surgery.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

D. Rimoin, I. Holm, C. Bacino, 2009, American journal of human genetics.