Gorlin RJ - Search Results

1

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

2

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

Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA. Hernandez PA, et al. Among authors: gorlin rj. Nat Genet. 2003 May;34(1):70-4. doi: 10.1038/ng1149. Nat Genet. 2003. PMID: 12692554

3

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

4

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

5

Adams-Oliver syndrome revisited.

Whitley CB, Gorlin RJ. Whitley CB, et al. Among authors: gorlin rj. Am J Med Genet. 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. Am J Med Genet. 1991. PMID: 1951437 Review.

6

Bannayan-Riley-Ruvalcaba syndrome.

Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Gorlin RJ, et al. Am J Med Genet. 1992 Oct 1;44(3):307-14. doi: 10.1002/ajmg.1320440309. Am J Med Genet. 1992. PMID: 1336932

7

Oculo-facio-cardio-dental (OFCD) syndrome.

Gorlin RJ, Marashi AH, Obwegeser HL. Gorlin RJ, et al. Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8723122

8

Nevoid basal cell carcinoma (Gorlin) syndrome.

Gorlin RJ. Gorlin RJ. Genet Med. 2004 Nov-Dec;6(6):530-9. doi: 10.1097/01.gim.0000144188.15902.c4. Genet Med. 2004. PMID: 15545751 Review. No abstract available.

9

Blepharo-cheilo-dontic (BCD) syndrome.

Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E. Gorlin RJ, et al. Am J Med Genet. 1996 Oct 16;65(2):109-12. doi: 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8911600

10

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: gorlin rj. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.

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