Pagon RA - Search Results

1

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, et al. Scherer SW, et al. Among authors: pagon ra. Am J Hum Genet. 1994 Jul;55(1):12-20. Am J Hum Genet. 1994. PMID: 8023840 Free PMC article. Review.

2

A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly.

Nunes ME, Pagon RA, Disteche CJ, Evans JP. Nunes ME, et al. Among authors: pagon ra. Clin Dysmorphol. 1994 Oct;3(4):277-86. Clin Dysmorphol. 1994. PMID: 7894731

3

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.

Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Stephens K, et al. Among authors: pagon ra. Hum Genet. 1992 Jan;88(3):279-82. doi: 10.1007/BF00197259. Hum Genet. 1992. PMID: 1346385

4

Autosomal dominant inheritance of Barber-Say syndrome.

Dinulos MB, Pagon RA. Dinulos MB, et al. Among authors: pagon ra. Am J Med Genet. 1999 Sep 3;86(1):54-6. doi: 10.1002/(sici)1096-8628(19990903)86:1<54::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10440829

5

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.

Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, Saal HM, Zinn AB, Disteche CM. Cantrell MA, et al. Among authors: pagon ra. Hum Genet. 1989 Aug;83(1):88-92. doi: 10.1007/BF00274156. Hum Genet. 1989. PMID: 2570023

6

Autosomal Dominant Robinow Syndrome.

Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D. Roifman M, et al. 2015 Jan 8 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Jan 8 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25577943 Free Books & Documents. Review.

7

Molecular detection of a translocation (Y;15) in a 45,X male.

Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon RA, Page DC. Disteche CM, et al. Among authors: pagon ra. Hum Genet. 1986 Dec;74(4):372-7. doi: 10.1007/BF00280488. Hum Genet. 1986. PMID: 3793100

8

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al. Francke U, et al. Among authors: pagon ra. Am J Hum Genet. 1985 Mar;37(2):250-67. Am J Hum Genet. 1985. PMID: 4039107 Free PMC article.

9

X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes.

Disteche CM, Swisshelm K, Forbes S, Pagon RA. Disteche CM, et al. Among authors: pagon ra. Hum Genet. 1984;66(1):71-6. doi: 10.1007/BF00275190. Hum Genet. 1984. PMID: 6698557

10

Autosomal Dominant Epilepsy with Auditory Features.

Michelucci R, Pasini E, Dazzo E. Michelucci R, et al. 2007 Apr 20 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Apr 20 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301709 Free Books & Documents. Review.

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