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Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology

American journal of medical genetics, 1993-08, Vol.47 (2), p.176-183

1993

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The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

American journal of medical genetics, 1984-09, Vol.19 (1), p.195-207

1984

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Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly

American journal of medical genetics, 1993-08, Vol.47 (1), p.50-53

1993

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Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait

American journal of medical genetics. Part A, 2003-02, Vol.117A (1), p.65-71

2003

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Oral-facial-skeletal syndromes

American journal of medical genetics, 1995-11, Vol.59 (3), p.365-368

1995

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Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida

American journal of medical genetics, 2002-02, Vol.108 (1), p.1-6

2002

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Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

American journal of medical genetics, 2000-09, Vol.94 (3), p.254-261

2000

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"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype

American journal of medical genetics, 1999-02, Vol.82 (5), p.371-375

1999

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CAG repeat sequences in bipolar affective disorder: No evidence for association in a french population

American journal of medical genetics, 1998-07, Vol.81 (4), p.338-341

1998

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Anticipation in schizophrenia: No evidence of expanded CAG/CTG repeat sequences in French families and sporadic cases

American journal of medical genetics, 1998-07, Vol.81 (4), p.342-346

1998

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Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex

American journal of medical genetics, 1997-01, Vol.68 (2), p.190-194

1997

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Report from the workshop on Pallister-Hall syndrome and related phenotypes

American journal of medical genetics, 1996-10, Vol.65 (1), p.76-81

1996

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More on the Noonan-CFC controversy

American journal of medical genetics, 1996-10, Vol.65 (2), p.100-100

1996

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Partial deletion of chromosome 12q is not usually associated with CFC syndrome

American journal of medical genetics, 2000-11, Vol.95 (3), p.296-296

2000

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Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria

American journal of medical genetics, 1994-09, Vol.52 (3), p.302-307

1994

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A split hand-split foot (SHFM3) gene is located at 10Q24→25

American journal of medical genetics, 1996-04, Vol.62 (4), p.427-436

1996

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Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

American journal of medical genetics, 1999-12, Vol.87 (5), p.391-394

1999

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Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro

American journal of medical genetics, 1994-07, Vol.51 (4), p.447-450

1994

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Sixty years of X-linked mental retardation: a historical footnote

American journal of medical genetics, 2000, Vol.97 (3), p.228

2000

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The Noonan-CFC controversy

American journal of medical genetics, 1991-06, Vol.39 (3), p.367-370

1991

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Sixty tears of X-linked mental retardation: A historical footnote

American journal of medical genetics, 2000, Vol.97 (3), p.228-233

2000

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Sixty years of X-linked mental retardation : A historical footnote: X-linked mental retardation

American journal of medical genetics, 2000, Vol.97 (3), p.228-233

2000

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Introduction to Overgrowth syndromes

American journal of medical genetics, 1998-10, Vol.79 (4), p.233-233

1998

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Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1

American journal of medical genetics, 1993-11, Vol.47 (6), p.823-831

1993

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Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome

American journal of medical genetics, 1992-09, Vol.44 (2), p.136-137

1992

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Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology

The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait

Oral-facial-skeletal syndromes

Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype

CAG repeat sequences in bipolar affective disorder: No evidence for association in a french population

Anticipation in schizophrenia: No evidence of expanded CAG/CTG repeat sequences in French families and sporadic cases

Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex

Report from the workshop on Pallister-Hall syndrome and related phenotypes

More on the Noonan-CFC controversy

Partial deletion of chromosome 12q is not usually associated with CFC syndrome

Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria

A split hand-split foot (SHFM3) gene is located at 10Q24→25

Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro

Sixty years of X-linked mental retardation: a historical footnote

The Noonan-CFC controversy

Sixty tears of X-linked mental retardation: A historical footnote

Sixty years of X-linked mental retardation : A historical footnote: X-linked mental retardation

Introduction to Overgrowth syndromes

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1

Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome

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