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Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Nature genetics, 2001-12, Vol.29 (4), p.465-468

2001

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Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

American journal of human genetics, 1998-06, Vol.62 (6), p.1370-1380

1998

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Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

The American journal of psychiatry, 1996-12, Vol.153 (12), p.1541-1547

1996

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Schizophrenia Susceptibility Associated with Interstitial Deletions of Chromosome 22q11

Proceedings of the National Academy of Sciences - PNAS, 1995-08, Vol.92 (17), p.7612-7616

1995

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Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

American journal of human genetics, 1995-06, Vol.56 (6), p.1391-1403

1995

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Psychotic Illness in Patients Diagnosed with Velo-Cardio-Facial Syndrome and Their Relatives

The journal of nervous and mental disease, 1994-08, Vol.182 (8), p.476-477

1994

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FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

American journal of human genetics, 1996-03, Vol.58 (3), p.491-498

1996

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Velo-cardio-facial syndrome: A review of 120 patients

American journal of medical genetics, 1993-02, Vol.45 (3), p.313-319

1993

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Variable phenotypes in velocardiofacial syndrome with chromosomal deletion

The Journal of pediatrics, 1993-09, Vol.123 (3), p.406-410

1993

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Isolation of a New Clathrin Heavy Chain Gene with Muscle-Specific Expression from the Region Commonly Deleted in Velo-cardio-facial Syndrome

Human molecular genetics, 1996-05, Vol.5 (5), p.617-624

1996

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Ocular findings in the velo-cardio-facial syndrome

Journal of pediatric ophthalmology and strabismus, 1987-09, Vol.24 (5), p.263

1987

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Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

American journal of medical genetics, 1992-09, Vol.44 (2), p.261-268

1992

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Spondyloepiphyseal dysplasia congenita : genetic linkage to type II collagen (COL2AI)

American journal of human genetics, 1990-05, Vol.46 (5), p.896-901

1990

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Shprintzen-Goldberg syndrome: A clinical analysis

American journal of medical genetics, 1998-03, Vol.76 (3), p.202-212

1998

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The velo-cardio-facial syndrome: a clinical and genetic analysis

Pediatrics (Evanston), 1981-02, Vol.67 (2), p.167

1981

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Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate

American journal of diseases of children (1960), 1982-07, Vol.136 (7), p.594

1982

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Ocular Findings in the Facioauriculovertebral Sequence (Goldenhar-Gorlin Syndrome)

American journal of ophthalmology, 1985-10, Vol.100 (4), p.555-559

1985

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Ocular Findings in Treacher Collins Syndrome

American journal of ophthalmology, 1990-09, Vol.110 (3), p.280-286

1990

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Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome

American journal of medical genetics, 1996-09, Vol.67 (5), p.468-472

1996

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Cardiac malformations in the velocardiofacial syndrome

The American journal of cardiology, 1980-01, Vol.46 (4), p.643-648

1980

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Congenital Myopia in Stickler's Hereditary Arthro-ophthalmopathy

American journal of ophthalmology, 1990-10, Vol.110 (4), p.435-436

1990

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Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region

Genomics (San Diego, Calif.), 1991-09, Vol.11 (1), p.188-192

1991

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Dorsal skin and fingernails on the volar aspect of the hand: an unusual anatomic deformity

Plastic and reconstructive surgery (1963), 1982-04, Vol.69 (4), p.694-696

1982

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Late-Onset psychosis in the velo-cardio-facial syndrome

American journal of medical genetics, 1992-01, Vol.42 (1), p.141-142

1992

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Further delineation of Weaver syndrome

The Journal of pediatrics, 1986-02, Vol.108 (2), p.228-235

1986

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Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

Schizophrenia Susceptibility Associated with Interstitial Deletions of Chromosome 22q11

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

Psychotic Illness in Patients Diagnosed with Velo-Cardio-Facial Syndrome and Their Relatives

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

Velo-cardio-facial syndrome: A review of 120 patients

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion

Isolation of a New Clathrin Heavy Chain Gene with Muscle-Specific Expression from the Region Commonly Deleted in Velo-cardio-facial Syndrome

Ocular findings in the velo-cardio-facial syndrome

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

Spondyloepiphyseal dysplasia congenita : genetic linkage to type II collagen (COL2AI)

Shprintzen-Goldberg syndrome: A clinical analysis

The velo-cardio-facial syndrome: a clinical and genetic analysis

Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate

Ocular Findings in the Facioauriculovertebral Sequence (Goldenhar-Gorlin Syndrome)

Ocular Findings in Treacher Collins Syndrome

Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome

Cardiac malformations in the velocardiofacial syndrome

Congenital Myopia in Stickler's Hereditary Arthro-ophthalmopathy

Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region

Dorsal skin and fingernails on the volar aspect of the hand: an unusual anatomic deformity

Late-Onset psychosis in the velo-cardio-facial syndrome

Further delineation of Weaver syndrome

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