Associate Professor of Pediatrics, Boston Children's Hospital

Medical Genetics

Doctor Mira B. Irons, MD is an expert in the field of Medical Genetics. She went to Northwestern University Feinberg School of Medicine. Northwestern University Feinberg School of Medicine has a rank of 19 in research and a 29 in primary care She received 1 awards: "Fellow (FAAP)". Doctor Mira B. Irons, MD is a published doctor and has 70 publications published. The lastest was: 'Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.'

Publications

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• Copy number variation plays an important role in clinical epilepsy.
• 18F-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.
• Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.
• Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.
• Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
• Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
• Brainstem lesions in neurofibromatosis type 1.
• Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
• Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
• Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
• The biology and management of laryngeal neurofibroma.
• Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.
• Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in ...
• Screening for metabolic disorders. How are we doing?
• Competencies for the physician medical geneticist in the 21st century.
• The phenotype of recurrent 10q22q23 deletions and duplications.
• Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
• Cerebral infarction in Menkes' disease.
• Utility of hemodialysis in maple syrup urine disease.
• Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis.
• The genetics clinic: where does the time go?
• Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
• Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.
• Participation by clinical geneticists in genetic advocacy groups.
• Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
• Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
• 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
• Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
• Chromosomal microarray testing influences medical management.
• The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion.
• Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
• Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
• 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.
• Toriello-Carey syndrome: delineation and review.
• Further delineation of cardiac abnormalities in Costello syndrome.
• Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
• Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
• The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.
• Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
• Clinical picture: Multicolour karyotyping.
• Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.
• Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
• Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
• Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
• Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
• A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
• Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.
• Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
• Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.
• Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.
• Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
• Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.
• Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
• Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
• Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
• Skeletal anomalies and deformities in patients with deletions of 22q11.
• Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.
• Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
• Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
• MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.
• Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.
• Antenatal therapy of Smith-Lemli-Opitz syndrome.
• Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
• Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
• Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
• Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
• The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
• Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
• Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Schools

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• Northwestern Center Feinberg School of Medicine

• Chldns Meml Hospital Northwestern University

• Chldns and Mass Genl Hosps Harvard Med School

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Fellow (FAAP)

Education

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• McGaw Medical Center of Northwestern University
• Northwestern University Feinberg School of Medicine

Hospital

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• Boston Children's Hospital
• Brigham and Women's Hospital

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