Pesquisa | Portal de Pesquisa da BVS

1.

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

Hernandez, Paolo A; Gorlin, Robert J; Lukens, John N; Taniuchi, Shoichiro; Bohinjec, Joze; Francois, Fleur; Klotman, Mary E; Diaz, George A.

Nat Genet ; 34(1): 70-4, 2003 May.

Artigo em Inglês | MEDLINE | ID: mdl-12692554

2.

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

Ng, David; Thakker, Nalin; Corcoran, Connie M; Donnai, Dian; Perveen, Rahat; Schneider, Adele; Hadley, Donald W; Tifft, Cynthia; Zhang, Liqun; Wilkie, Andrew O M; van der Smagt, Jasper J; Gorlin, Robert J; Burgess, Shawn M; Bardwell, Vivian J; Black, Graeme C M; Biesecker, Leslie G.

Nat Genet ; 36(4): 411-6, 2004 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-15004558

3.

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

Robertson, Stephen P; Twigg, Stephen R F; Sutherland-Smith, Andrew J; Biancalana, Valérie; Gorlin, Robert J; Horn, Denise; Kenwrick, Susan J; Kim, Chong A; Morava, Eva; Newbury-Ecob, Ruth; Orstavik, Karen H; Quarrell, Oliver W J; Schwartz, Charles E; Shears, Deborah J; Suri, Mohnish; Kendrick-Jones, John; Wilkie, Andrew O M.

Nat Genet ; 33(4): 487-91, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12612583

4.

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

Gripp, Karen W; Johnson, Caitlyn; Scott, Charles I; Nicholson, Linda; Bober, Michael; Butler, Merlin G; Shaw, Linda; Gorlin, Robert J.

Am J Med Genet A ; 146A(4): 468-73, 2008 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-18203204

5.

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

Ledesma-Montes, Constantino; Gorlin, Robert J; Shear, Mervyn; Prae Torius, Finn; Mosqueda-Taylor, Adalberto; Altini, Mario; Unni, Krishnan; Paes de Almeida, Oslei; Carlos-Bregni, Román; Romero de León, Elías; Phillips, Vince; Delgado-Azañero, Wilson; Meneses-García, Abelardo.

J Oral Pathol Med ; 37(5): 302-8, 2008 May.

Artigo em Inglês | MEDLINE | ID: mdl-18221328

6.

The language of the extremities.

Gorlin, Robert J.

Am J Med Genet ; 112(3): 234-5, 2002 Oct 15.

Artigo em Inglês | MEDLINE | ID: mdl-12357466

7.

Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign.

Leonardi, Rosalia; Caltabiano, Mario; Lo Muzio, Lorenzo; Gorlin, Robert J; Bucci, Paolo; Pannone, Giuseppe; Canfora, Massimo; Sorge, Giovanni.

Am J Med Genet ; 110(4): 400-3, 2002 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-12116218

8.

Multiple macrodontic multituberculism.

Benjamin, Martinez R; Rodrigo, Fariña S; Gorlin, Robert J.

Am J Med Genet A ; 120A(2): 283-5, 2003 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-12833415

9.

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

Kurpinski, Kyle T; Magyari, Patricia A; Gorlin, Robert J; Ng, David; Biesecker, Leslie G.

Am J Med Genet A ; 120A(1): 1-4, 2003 Jul 01.

Artigo em Inglês | MEDLINE | ID: mdl-12794682

10.

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Faivre, Laurence; Dollfus, Hélène; Lyonnet, Stanislas; Alembik, Yves; Mégarbané, André; Samples, John; Gorlin, Robert J; Alswaid, Abdulrahman; Feingold, Josué; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie.

Am J Med Genet A ; 123A(2): 204-7, 2003 Dec 01.

Artigo em Inglês | MEDLINE | ID: mdl-14598350

11.

New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.

Giampietro, Philip F; Babu, Deepti; Koehn, Monica A; Jacobson, Daniel M; Mueller-Schrader, Karla A; Moretti, Cara; Patten, Stella F; Shaffer, Lisa G; Gorlin, Robert J; Dobyns, William B.

Am J Med Genet A ; 124A(2): 202-8, 2004 Jan 15.

Artigo em Inglês | MEDLINE | ID: mdl-14699622

12.

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

Gorlin, Robert J.

Am J Hum Genet ; 76(2): 216-8, 2005 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-15714687

13.

Nevoid basal cell carcinoma (Gorlin) syndrome.

Gorlin, Robert J.

Genet Med ; 6(6): 530-9, 2004.

Artigo em Inglês | MEDLINE | ID: mdl-15545751

14.

Syndromes of the head and neck

Gorlin, Robert J; Cohen Junior, M. Michael; Levin, L. Stefan.

New York; Oxford University Press; 3 ed; 1990. xxi,977 p. ilus, tab, ^e29cm.(Oxford Monographs on Medical Genetics, 19).

Monografia em Inglês | LILACS, HANSEN, HANSENIASE, SESSP-ILSLACERVO, SES-SP | ID: biblio-1085371

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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.

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

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

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

The language of the extremities.

Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign.

Multiple macrodontic multituberculism.

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

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.

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

Nevoid basal cell carcinoma (Gorlin) syndrome.

Syndromes of the head and neck