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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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Maternal uniparental disomy 7 : review and further delineation of the phenotype

European journal of pediatrics, 2000-04, Vol.159 (4), p.247-256

2000

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The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation

Proceedings of the National Academy of Sciences - PNAS, 2002-09, Vol.99 (18), p.11754-11759

2002

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Bildtafeln für die genetische Beratung

Tariverdian, Gholamali

1992

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Agnathia-otocephaly complex: presentation of four cases

Pathology, research and practice, 2004-01, Vol.200 (4), p.363

2004

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Some problems in the genetics of X-linked mental retardation

Cytogenetics and cell genetics, 2000, Vol.91 (1-4), p.278

2000

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Midas-Syndrom : Eine X-chromosomale Erkrankung : Differentialdiagnose zum kongenitalen Varizellensyndrom

Monatsschrift Kinderheilkunde, 1998, Vol.146 (8), p.761-765

1998

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Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

American journal of human genetics, 2004-07, Vol.75 (1), p.138-145

2004

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Humangenetik: Begleittext zum Gegenstandskatalog

1991

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Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

Clinical genetics, 1997-05, Vol.51 (5), p.346-350

1997

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Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene

Human genetics, 1994-10, Vol.94 (4), p.331-338

1994

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Microcephalic osteodysplastic primordial dwarfism type II : a child with unusual symptoms and clinical course

European journal of pediatrics, 1996-09, Vol.155 (9), p.796-799

1996

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Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects

Pathologica, 1998-06, Vol.90 (3), p.285

1998

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Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.236-244

1997

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Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

Human genetics, 2002-07, Vol.111 (1), p.31-39

2002

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Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course

European journal of pediatrics, 1996-09, Vol.155 (9), p.796-799

1996

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A monozygotic twin pair with Rett syndrome

Human genetics, 1987, Vol.75 (1), p.88-90

1987

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Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

Human genetics, 1993-11, Vol.92 (5), p.491-498

1993

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Untersuchungen zur frühen Amniozentese

Geburtshilfe und Frauenheilkunde, 1990-06, Vol.50 (6), p.443-446

1990

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Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

Clinical genetics, 1995-04, Vol.47 (4), p.217-220

1995

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Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals

Human genetics, 2000-07, Vol.107 (1), p.51-57

2000

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Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature

Clinical dysmorphology, 2005-01, Vol.14 (1), p.51

2005

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Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies

Human genetics, 1987-12, Vol.77 (4), p.342-344

1987

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Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome

American journal of medical genetics, 1991-11, Vol.41 (2), p.196-200

1991

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Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification

Pediatric radiology, 2001-04, Vol.31 (4), p.289-293

2001

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Maternal uniparental disomy 7 : review and further delineation of the phenotype

The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation

Bildtafeln für die genetische Beratung

Agnathia-otocephaly complex: presentation of four cases

Some problems in the genetics of X-linked mental retardation

Midas-Syndrom : Eine X-chromosomale Erkrankung : Differentialdiagnose zum kongenitalen Varizellensyndrom

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

Humangenetik: Begleittext zum Gegenstandskatalog

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene

Microcephalic osteodysplastic primordial dwarfism type II : a child with unusual symptoms and clinical course

Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course

A monozygotic twin pair with Rett syndrome

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

Untersuchungen zur frühen Amniozentese

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals

Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature

Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies

Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome

Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification

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