Kulharya AS - Search Results

1

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. Ensenauer RE, et al. Among authors: kulharya as. Am J Hum Genet. 2003 Nov;73(5):1027-40. doi: 10.1086/378818. Epub 2003 Oct 2. Am J Hum Genet. 2003. PMID: 14526392 Free PMC article.

2

Trisomy 22: no longer an enigma.

Kukolich MK, Kulharya A, Jalal SM, Drummond-Borg M. Kukolich MK, et al. Am J Med Genet. 1989 Dec;34(4):541-4. doi: 10.1002/ajmg.1320340417. Am J Med Genet. 1989. PMID: 2624265

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. 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

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

5

Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q.

Kulharya AS, Carlin ME, Stettler RW, Huslig M, Kukolich MK, Garcia-Heras J. Kulharya AS, et al. Clin Genet. 1997 Feb;51(2):115-7. doi: 10.1111/j.1399-0004.1997.tb02431.x. Clin Genet. 1997. PMID: 9111999 Review.

6

Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter.

Drummond-Borg M, Kulharya AS, Tonk V, Garcia-Heras J. Drummond-Borg M, et al. Among authors: kulharya as. Am J Med Genet. 2002 Jan 1;107(1):61-3. doi: 10.1002/ajmg.10126. Am J Med Genet. 2002. PMID: 11807870

7

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

8

Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion.

Kulharya AS, Schneider NR, Wilson GN. Kulharya AS, et al. Am J Med Genet. 1993 Nov 1;47(6):817-9. doi: 10.1002/ajmg.1320470604. Am J Med Genet. 1993. PMID: 8279477

9

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

10

Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly.

Kulharya AS, Maberry M, Kukolich MK, Day DW, Schneider NR, Wilson GN, Tonk V. Kulharya AS, et al. Am J Med Genet. 1995 Jan 16;55(2):165-70. doi: 10.1002/ajmg.1320550206. Am J Med Genet. 1995. PMID: 7717415 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

32 results

Search Page

Filters