Dobkin C - Search Results

1

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.

Nolin SL, Glicksman A, Tortora N, Allen E, Macpherson J, Mila M, Vianna-Morgante AM, Sherman SL, Dobkin C, Latham GJ, Hadd AG. Nolin SL, et al. Among authors: dobkin c. Am J Med Genet A. 2019 Jul;179(7):1148-1156. doi: 10.1002/ajmg.a.61165. Epub 2019 May 2. Am J Med Genet A. 2019. PMID: 31050164 Free PMC article.

2

Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion.

Nolin SL, Ding XH, Houck GE, Brown WT, Dobkin C. Nolin SL, et al. Among authors: dobkin c. Am J Med Genet A. 2008 Jan 1;146A(1):60-5. doi: 10.1002/ajmg.a.32087. Am J Med Genet A. 2008. PMID: 18074381

3

Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss.

Dobkin C, Radu G, Ding XH, Brown WT, Nolin SL. Dobkin C, et al. Am J Med Genet A. 2009 Oct;149A(10):2152-7. doi: 10.1002/ajmg.a.33011. Am J Med Genet A. 2009. PMID: 19764037

4

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

Nolin SL, Glicksman A, Ding X, Ersalesi N, Brown WT, Sherman SL, Dobkin C. Nolin SL, et al. Among authors: dobkin c. Prenat Diagn. 2011 Oct;31(10):925-31. doi: 10.1002/pd.2815. Epub 2011 Jun 30. Prenat Diagn. 2011. PMID: 21717484

5

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.

Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG. Nolin SL, et al. Among authors: dobkin c. Am J Med Genet A. 2013 Apr;161A(4):771-8. doi: 10.1002/ajmg.a.35833. Epub 2013 Feb 26. Am J Med Genet A. 2013. PMID: 23444167 Free PMC article.

6

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.

Nolin SL, Glicksman A, Ersalesi N, Dobkin C, Brown WT, Cao R, Blatt E, Sah S, Latham GJ, Hadd AG. Nolin SL, et al. Among authors: dobkin c. Genet Med. 2015 May;17(5):358-64. doi: 10.1038/gim.2014.106. Epub 2014 Sep 11. Genet Med. 2015. PMID: 25210937 Free article.

7

Prenatal diagnosis and carrier screening for fragile X by PCR.

Brown WT, Nolin S, Houck G Jr, Ding X, Glicksman A, Li SY, Stark-Houck S, Brophy P, Duncan C, Dobkin C, Jenkins E. Brown WT, et al. Among authors: dobkin c. Am J Med Genet. 1996 Jul 12;64(1):191-5. doi: 10.1002/(SICI)1096-8628(19960712)64:1<191::AID-AJMG34>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8826474

8

Reverse mutations in the fragile X syndrome.

Brown WT, Houck GE Jr, Ding X, Zhong N, Nolin S, Glicksman A, Dobkin C, Jenkins EC. Brown WT, et al. Among authors: dobkin c. Am J Med Genet. 1996 Aug 9;64(2):287-92. doi: 10.1002/(SICI)1096-8628(19960809)64:2<287::AID-AJMG11>3.0.CO;2-B. Am J Med Genet. 1996. PMID: 8844067

9

Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection.

Dobkin C, Ding X, Li S, Houck G Jr, Nolin SL, Glicksman A, Zhong N, Jenkins EC, Brown WT. Dobkin C, et al. Am J Med Genet. 1999 Apr 2;83(4):338-41. Am J Med Genet. 1999. PMID: 10208176

10

Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.

Dobkin CS, Nolin SL, Cohen I, Sudhalter V, Bialer MG, Ding XH, Jenkins EC, Zhong N, Brown WT. Dobkin CS, et al. Am J Med Genet. 1996 Aug 9;64(2):296-301. doi: 10.1002/(SICI)1096-8628(19960809)64:2<296::AID-AJMG13>3.0.CO;2-A. Am J Med Genet. 1996. PMID: 8844069

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