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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

American journal of human genetics, 2005-04, Vol.76 (4), p.609-622

2005

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Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

Human molecular genetics, 2003-06, Vol.12 (12), p.1439-1447

2003

Volltextzugriff (PDF)

Phenotypic spectrum and management issues in Kabuki syndrome

The Journal of pediatrics, 1999-04, Vol.134 (4), p.480-485

1999

Volltextzugriff (PDF)

CHARGE Association: An Update and Review for the Primary Pediatrician

Clinical Pediatrics, 1998-03, Vol.37 (3), p.159-173

1998

Volltextzugriff (PDF)

Genetic testing: when to test, when to refer

American family physician, 2005-07, Vol.72 (1), p.33-34

Pagon, Roberta A

2005

Volltextzugriff (PDF)

Mutation Analysis of UBE3A in Angelman Syndrome Patients

American journal of human genetics, 1998-06, Vol.62 (6), p.1353-1360

1998

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Genetic testing for disease susceptibilities: consequences for genetic counseling

Trends in molecular medicine, 2002-06, Vol.8 (6), p.306-307

Pagon, Roberta A

2002

Volltextzugriff (PDF)

Molecular genetic testing for inherited disorders

Expert review of molecular diagnostics, 2004-03, Vol.4 (2), p.135-140

Pagon, Roberta A

2004

Volltextzugriff (PDF)

Retinitis pigmentosa

Survey of Ophthalmology, 1988-11, Vol.33 (3), p.137-177

Pagon, Roberta A.

1988

Volltextzugriff (PDF)

GeneTests-GeneClinics: Genetic testing information for a growing audience

Human mutation, 2002-05, Vol.19 (5), p.501-509

2002

Volltextzugriff (PDF)

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

American journal of human genetics, 1998-04, Vol.62 (4), p.855-864

1998

Volltextzugriff (PDF)

Online medical genetics resources: a US perspective

BMJ (Online), 2001-04, Vol.322 (7293), p.1035-1037

International edition, 2001

Volltextzugriff (PDF)

Prevalence of hypopigmented macules in a healthy population

The Journal of pediatrics, 1996-09, Vol.129 (3), p.355-361

1996

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Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

The journal of clinical endocrinology and metabolism, 1996-07, Vol.81 (7), p.2481-2486

1996

Volltextzugriff (PDF)

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

American journal of human genetics, 1994-07, Vol.55 (1), p.12-20

1994

Volltextzugriff (PDF)

Genetic Testing

The New England journal of medicine, 2003-03, Vol.348 (11), p.1066-1067

2003

Volltextzugriff (PDF)

Causal heterogeneity in isolated lissencephaly

Neurology, 1992-07, Vol.42 (7), p.1375

1992

Volltextzugriff (PDF)

GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing

Journal of the American Medical Informatics Association : JAMIA, 2000-05, Vol.7 (3), p.267-276

2000

Volltextzugriff (PDF)

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Pediatric research, 1990-09, Vol.28 (3), p.247-255

1990

Volltextzugriff (PDF)

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Human genetics, 1992, Vol.88 (3), p.279-282

1992

Volltextzugriff (PDF)

Multilocus FISH Analysis

American journal of human genetics, 1997-07, Vol.61 (1), p.16-17

Pagon, Roberta A.

1997

Volltextzugriff (PDF)

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

The Journal of pediatrics, 1981-08, Vol.99 (2), p.223-227

1981

Volltextzugriff (PDF)

Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito

The Journal of pediatrics, 1990-04, Vol.116 (4), p.581-586

1990

Volltextzugriff (PDF)

Ocular coloboma

Survey of Ophthalmology, 1981, Vol.25 (4), p.223-236

Pagon, Roberta A.

1981

Volltextzugriff (PDF)

The virtues of the virtual world

Genetics in medicine, 1999-07, Vol.1 (5), p.177-177

1999

Volltextzugriff (PDF)

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

Phenotypic spectrum and management issues in Kabuki syndrome

CHARGE Association: An Update and Review for the Primary Pediatrician

Genetic testing: when to test, when to refer

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Genetic testing for disease susceptibilities: consequences for genetic counseling

Molecular genetic testing for inherited disorders

Retinitis pigmentosa

GeneTests-GeneClinics: Genetic testing information for a growing audience

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Online medical genetics resources: a US perspective

Prevalence of hypopigmented macules in a healthy population

Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

Genetic Testing

Causal heterogeneity in isolated lissencephaly

GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Multilocus FISH Analysis

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito

Ocular coloboma

The virtues of the virtual world

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