Gorlin RJ - Search Results

1

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: gorlin rj. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34. J Med Genet. 2003. PMID: 12525539 Free PMC article.

2

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: gorlin rj. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. Am J Med Genet A. 2003. PMID: 14598350 Review.

3

Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.

Wirtz MK, Samples JR, Kramer PL, Rust K, Yount J, Acott TS, Koler RD, Cisler J, Jahed A, Gorlin RJ, Godfrey M. Wirtz MK, et al. Among authors: gorlin rj. Am J Med Genet. 1996 Oct 2;65(1):68-75. doi: 10.1002/(SICI)1096-8628(19961002)65:1<68::AID-AJMG11>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8914744

4

WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies.

Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR Jr. Gorlin RJ, et al. Am J Med Genet. 2000 Apr 24;91(5):368-76. Am J Med Genet. 2000. PMID: 10767001

5

Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.

Kantaputra PN, Gorlin RJ, Langer LO Jr. Kantaputra PN, et al. Among authors: gorlin rj. Am J Med Genet. 1992 Dec 1;44(6):730-7. doi: 10.1002/ajmg.1320440606. Am J Med Genet. 1992. PMID: 1481840

6

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC. Barrow LL, et al. J Med Genet. 2002 Aug;39(8):559-66. doi: 10.1136/jmg.39.8.559. J Med Genet. 2002. PMID: 12161593 Free PMC article.

7

Multiple schwannomas, multiple nevi, and multiple vaginal leiomyomas: a new dominant syndrome.

Gorlin RJ, Koutlas IG. Gorlin RJ, et al. Am J Med Genet. 1998 Jun 16;78(1):76-81. doi: 10.1002/(sici)1096-8628(19980616)78:1<76::aid-ajmg16>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9637429

8

Further delineation of the branchio-oculo-facial syndrome.

Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Lin AE, et al. Among authors: gorlin rj. Am J Med Genet. 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. Am J Med Genet. 1995. PMID: 7747785 Free article. Review.

9

Deletion of chromosome 4q33 leads to qter. Is it different from 4q31 leads to qter deletion syndrome?

Tuchman M, Ebrahimi J, Gorlin RJ. Tuchman M, et al. Among authors: gorlin rj. Am J Med Genet. 1983 Feb;14(2):391-3. doi: 10.1002/ajmg.1320140221. Am J Med Genet. 1983. PMID: 6837634 No abstract available.

10

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome?

Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA. Reish O, et al. Among authors: gorlin rj. Am J Med Genet. 1997 Feb 11;68(4):386-90. doi: 10.1002/(sici)1096-8628(19970211)68:4<386::aid-ajmg2>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9021007

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