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

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-11, Vol.160C (4), p.250-262

2012

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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

American journal of human genetics, 2009-03, Vol.84 (3), p.307-315

2009

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Maintenance of Certification 2.0 — Strong Start, Continued Evolution

The New England journal of medicine, 2015-01, Vol.372 (2), p.104-106

2015

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Longitudinal assessments in continuing specialty certification and lifelong learning

Medical teacher, 2018-09, Vol.40 (9), p.917-919

2018

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

Journal of medical genetics, 2007-09, Vol.44 (9), p.594-602

2007

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

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Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1

Pediatric blood & cancer, 2010-07, Vol.54 (7), p.890-896

2010

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

Journal of child neurology, 2010-10, Vol.25 (10), p.1195-1202

2010

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Brainstem Lesions in Neurofibromatosis Type 1

Neurosurgery, 2007-10, Vol.61 (4), p.762-767

2007

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

American journal of medical genetics. Part A, 2006-09, Vol.140A (17), p.1876-1879

2006

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

American journal of medical genetics. Part A, 2007-11, Vol.143A (21), p.2523-2533

2007

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

Prenatal diagnosis, 2006-09, Vol.26 (9), p.842-849

2006

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Polymicrogyria is Associated With Pathogenic Variants in PTEN

Annals of neurology, 2020-12, Vol.88 (6), p.1153-1164

2020

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

Journal of neurosurgery. Pediatrics, 2013-04, Vol.11 (4), p.417-425

2013

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Children with segmental neurofibromatosis type 1 are at increased risk for academic and cognitive difficulties

Journal of pediatric neurology, 2010-12, Vol.8 (4), p.343-348

2010

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

American journal of medical genetics, 2005-01, Vol.132A (2), p.226-230

2005

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Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1: Clinical article

Journal of neurosurgery. Pediatrics, 2013-04, Vol.11 (4), p.410-416

2013

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Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?

Birth defects research. A Clinical and molecular teratology, 2005-08, Vol.73 (8), p.569-571

2005

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Smith―Lemli―Opitz Syndrome: Phenotype, Natural History, and Epidemiology: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis

American journal of medical genetics. Part C, Seminars in medical genetics, 2012, Vol.160 (4), p.250-262

2012

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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, 2004-10, Vol.130A (2), p.204-207

2004

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Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726

Pediatric research, 2004-11, Vol.56 (5), p.679-681

Irons, Mira B

2004

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Antenatal Therapy of Smith-Lemli-Opitz Syndrome

Fetal diagnosis and therapy, 1999-05, Vol.14 (3), p.133-137

1999

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The biology and management of laryngeal neurofibroma

Archives of otolaryngology--head & neck surgery, 2004-12, Vol.130 (12), p.1400

2004

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

Journal of neurosurgery. Pediatrics, 2013-04, Vol.11 (4), p.417

2013

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Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1

Journal of neurosurgery. Pediatrics, 2013-04, Vol.11 (4), p.410

2013

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

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Maintenance of Certification 2.0 — Strong Start, Continued Evolution

Longitudinal assessments in continuing specialty certification and lifelong learning

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

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1

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

Brainstem Lesions in Neurofibromatosis Type 1

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

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

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

Polymicrogyria is Associated With Pathogenic Variants in PTEN

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

Children with segmental neurofibromatosis type 1 are at increased risk for academic and cognitive difficulties

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

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1: Clinical article

Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?

Smith―Lemli―Opitz Syndrome: Phenotype, Natural History, and Epidemiology: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis

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

Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726

Antenatal Therapy of Smith-Lemli-Opitz Syndrome

The biology and management of laryngeal neurofibroma

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

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1

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