Kulharya A - Search Results

1

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism.

Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC. Bhagavath B, et al. Among authors: kulharya a. Fertil Steril. 2006 Mar;85(3):706-13. doi: 10.1016/j.fertnstert.2005.08.044. Fertil Steril. 2006. PMID: 16500342 Free article.

2

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes.

Layman LC, Tho SP, Clark AD, Kulharya A, McDonough PG. Layman LC, et al. Among authors: kulharya a. Fertil Steril. 2009 Mar;91(3):791-7. doi: 10.1016/j.fertnstert.2007.12.078. Epub 2008 Jun 16. Fertil Steril. 2009. PMID: 18555994 Free PMC article.

3

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. Kim HG, et al. Among authors: kulharya a. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018. Am J Hum Genet. 2010. PMID: 20887964 Free PMC article.

4

Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex.

Tho SP, Jackson R, Kulharya AS, Reindollar RH, Layman LC, McDonough PG. Tho SP, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2616-22. doi: 10.1002/ajmg.a.31992. Am J Med Genet A. 2007. PMID: 17935253

5

Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies.

Kulharya AS, Lovell CM, Flannery DB. Kulharya AS, et al. Am J Med Genet. 2002 Dec 15;113(4):367-70. doi: 10.1002/ajmg.b.10801. Am J Med Genet. 2002. PMID: 12457409

6

Packed red cell transfusion does not compromise chromosome analysis in newborns.

Kulharya AS, Salbert BA, Norris KN, Cook L, Larrison PJ, Flannery DB. Kulharya AS, et al. Genet Med. 2001 Jul-Aug;3(4):314-7. doi: 10.1097/00125817-200107000-00008. Genet Med. 2001. PMID: 11478533 Free article.

7

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.

Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti GV. Kulharya AS, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2234-41. doi: 10.1002/ajmg.a.32397. Am J Med Genet A. 2008. PMID: 18666229

8

Involvement of p54(nrb), a PSF partner protein, in DNA double-strand break repair and radioresistance.

Li S, Kuhne WW, Kulharya A, Hudson FZ, Ha K, Cao Z, Dynan WS. Li S, et al. Among authors: kulharya a. Nucleic Acids Res. 2009 Nov;37(20):6746-53. doi: 10.1093/nar/gkp741. Epub 2009 Sep 16. Nucleic Acids Res. 2009. PMID: 19759212 Free PMC article.

9

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.

Kulharya AS, Michaelis RC, Norris KS, Taylor HA, Garcia-Heras J. Kulharya AS, et al. Am J Med Genet. 1998 Jun 5;77(5):391-4. Am J Med Genet. 1998. PMID: 9632168

10

Complete monosomy 21 confirmed by FISH and array-CGH.

Kulharya AS, Tonk VS, Lovell C, Flannery DB. Kulharya AS, et al. Am J Med Genet A. 2012 Apr;158A(4):935-7. doi: 10.1002/ajmg.a.35251. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407893 No abstract available.

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