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Genetic aspects of human congenital diaphragmatic hernia

Clinical genetics, 2008-07, Vol.74 (1), p.1-15

Pober, BR

2008

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Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

Clinical genetics, 2015-04, Vol.87 (4), p.362-367

2015

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Description of common musculoskeletal findings in Williams Syndrome and implications for therapies

Clinical anatomy (New York, N.Y.), 2016-07, Vol.29 (5), p.578-589

2016

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Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome

Clinical genetics, 2018-07, Vol.94 (1), p.187-188

2018

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High prevalence of diabetes and pre-diabetes in adults with Williams syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-05, Vol.154C (2), p.291-298

2010

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Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.17-23

2006

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Truncating mutations in FOXC2 cause multiple lymphedema syndromes

Human molecular genetics, 2001-05, Vol.10 (11), p.1185-1189

2001

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

American journal of human genetics, 2023-10, Vol.110 (10), p.1787-1803

2023

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FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

Genomics (San Diego, Calif.), 1998-02, Vol.47 (3), p.350-358

1998

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A Defect in the Transport of Long-Chain Fatty Acids Associated with Acute Liver Failure

The New England journal of medicine, 1998-12, Vol.339 (24), p.1752-1757

1998

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New Approach to Genetically Informed Treatment

Frontiers in human neuroscience, 2009, Vol.3

B., Pober

2009

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Differences by sex in cardiovascular disease in Williams syndrome

The Journal of pediatrics, 2001-12, Vol.139 (6), p.849-853

2001

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Genetics of Childhood Disorders: XXVI. Williams Syndrome and Brain–Behavior Relationships

Journal of the American Academy of Child and Adolescent Psychiatry, 2001-05, Vol.40 (5), p.606-609

2001

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Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome

American journal of human genetics, 1997-08, Vol.61 (2), p.449-452

1997

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Discriminating Power of Localized Three-Dimensional Facial Morphology

American journal of human genetics, 2005-12, Vol.77 (6), p.999-1010

2005

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Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

Journal of medical genetics, 2002-05, Vol.39 (5), p.359-365

2002

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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis : a new X linked contiguous gene deletion syndrome?

Journal of medical genetics, 1998-04, Vol.35 (4), p.273-278

1998

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Nature genetics, 2001-11, Vol.29 (3), p.321-325

2001

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Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Genetics in medicine, 2008-07, Vol.10 (7), p.469-494

2008

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Reporting accuracy among mothers of malformed and nonmalformed infants

American journal of epidemiology, 1989-02, Vol.129 (2), p.415-421

1989

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Association of Chiari I malformation and Williams syndrome

Pediatric neurology, 1995-01, Vol.12 (1), p.84-88

1995

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Pulmonary hypoplasia and persistent pulmonary hypertension in the newborn with homozygous α-thalassemia: a case report and review of the literature

The journal of maternal-fetal & neonatal medicine, 2003-12, Vol.14 (6), p.411-416

2003

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Williams Syndrome: An Overview of Medical, Cognitive, and Behavioral Features

Child and adolescent psychiatric clinics of North America, 1996-10, Vol.5 (4), p.929-943

1996

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Syndromic Patent Ductus Arteriosus: Evidence for Haploinsufficient TFAP2B Mutations and Identification of a Linked Sleep Disorder

Proceedings of the National Academy of Sciences - PNAS, 2005-02, Vol.102 (8), p.2975-2979

2005

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Genetic aspects of human congenital diaphragmatic hernia

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

A Defect in the Transport of Long-Chain Fatty Acids Associated with Acute Liver Failure

New Approach to Genetically Informed Treatment

Differences by sex in cardiovascular disease in Williams syndrome

Genetics of Childhood Disorders: XXVI. Williams Syndrome and Brain–Behavior Relationships

Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome

Discriminating Power of Localized Three-Dimensional Facial Morphology

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis : a new X linked contiguous gene deletion syndrome?

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Reporting accuracy among mothers of malformed and nonmalformed infants

Association of Chiari I malformation and Williams syndrome

Pulmonary hypoplasia and persistent pulmonary hypertension in the newborn with homozygous α-thalassemia: a case report and review of the literature

Williams Syndrome: An Overview of Medical, Cognitive, and Behavioral Features

Syndromic Patent Ductus Arteriosus: Evidence for Haploinsufficient TFAP2B Mutations and Identification of a Linked Sleep Disorder

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