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Nevoid basal cell carcinoma (Gorlin) syndrome

Genetics in medicine, 2004-11, Vol.6 (6), p.530-539

Gorlin, Robert J.

2004

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Germline mutations in PTEN are present in Bannayan-Zonana syndrome

Nature genetics, 1997-08, Vol.16 (4), p.333-334

1997

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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

American journal of human genetics, 2001-06, Vol.68 (6), p.1321-1326

2001

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Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Nature genetics, 2003-05, Vol.34 (1), p.70-74

2003

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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Nature genetics, 2004-04, Vol.36 (4), p.411-416

2004

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A two-hit model for developmental defects in Gorlin syndrome

Nature genetics, 1996-01, Vol.12 (1), p.85-87

1996

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Oral Manifestations of Inherited Disorders

1, 1977

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Nature genetics, 2003-04, Vol.33 (4), p.487-491

2003

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International collaborative study on ghost cell odontogenic tumours: calcifying cystic odontogenic tumour, dentinogenic ghost cell tumour and ghost cell odontogenic carcinoma

Journal of oral pathology & medicine, 2008-05, Vol.37 (5), p.302-308

2008

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Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

The Lancet (British edition), 2001-07, Vol.358 (9277), p.210-211

2001

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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

American journal of medical genetics, 2003-12, Vol.123A (2), p.204-207

2003

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Syndromes, Syndromes, and More Syndromes

Journal of dental research, 1996-02, Vol.75 (2), p.732-735

Gorlin, Robert J.

1996

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Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.468-473

2008

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Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients

American journal of medical genetics, 2003-07, Vol.120A (1), p.1-4

2003

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Multiple macrodontic multituberculism

American journal of medical genetics, 2003-07, Vol.120A (2), p.283-285

2003

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New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

American journal of medical genetics, 2004-01, Vol.124A (2), p.202-208

2004

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Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist

Pediatric radiology, 1998-10, Vol.28 (10), p.802-804

Gorlin, R J

1998

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And the Band Played On

American journal of human genetics, 2005, Vol.76 (2), p.216-218

Gorlin, Robert J.

2005

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Syndrome Recognition

Orthodontics, 2016, p.353-356

811.39, 2016

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Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

Human molecular genetics, 1997-08, Vol.6 (8), p.1383-1387

1997

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Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation

Human molecular genetics, 1998-03, Vol.7 (3), p.507-515

1998

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Nevoid Basal Cell Carcinoma Syndrome

Dermatologic clinics, 1995-01, Vol.13 (1), p.113-125

Gorlin, Robert J.

1995

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2004 ASHG Award for Excellence in Human Genetics Education. And the band played on

American journal of human genetics, 2005-02, Vol.76 (2), p.216-218

Gorlin, Robert J

2005

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Oral manifestations of inherited disorders

2013

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Nevoid basal cell carcinoma (Gorlin) syndrome

Germline mutations in PTEN are present in Bannayan-Zonana syndrome

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

A two-hit model for developmental defects in Gorlin syndrome

Oral Manifestations of Inherited Disorders

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

International collaborative study on ghost cell odontogenic tumours: calcifying cystic odontogenic tumour, dentinogenic ghost cell tumour and ghost cell odontogenic carcinoma

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

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

Syndromes, Syndromes, and More Syndromes

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients

Multiple macrodontic multituberculism

New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist

And the Band Played On

Syndrome Recognition

Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation

Nevoid Basal Cell Carcinoma Syndrome

2004 ASHG Award for Excellence in Human Genetics Education. And the band played on

Oral manifestations of inherited disorders

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