Bartley J - Search Results

1

Autosomal XX sex reversal caused by duplication of SOX9.

Huang B, Wang S, Ning Y, Lamb AN, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet. 1999 Dec 3;87(4):349-53. doi: 10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n. Am J Med Genet. 1999. PMID: 10588843

2

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.

Sahoo T, Wang JC, Elnaggar MM, Sanchez-Lara P, Ross LP, Mahon LW, Hafezi K, Deming A, Hinman L, Bruno Y, Bartley JA, Liehr T, Anguiano A, Jones M. Sahoo T, et al. Eur J Hum Genet. 2015 Jan;23(1):61-6. doi: 10.1038/ejhg.2014.53. Epub 2014 Apr 9. Eur J Hum Genet. 2015. PMID: 24713661 Free PMC article.

3

Partial hexasomy of chromosome 15.

Huang B, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet A. 2003 Sep 1;121A(3):277-80. doi: 10.1002/ajmg.a.20182. Am J Med Genet A. 2003. PMID: 12923871

4

Hemifacial microsomia and abnormal chromosome 22.

Hathout EH, Elmendorf E, Bartley J. Hathout EH, et al. Among authors: bartley j. Am J Med Genet. 1998 Feb 26;76(1):71-3. doi: 10.1002/(sici)1096-8628(19980226)76:1<71::aid-ajmg13>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9508069

5

Identification of an unusual marker chromosome by spectral karyotyping.

Huang B, Ning Y, Lamb AN, Sandlin CJ, Jamehdor M, Ried T, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet. 1998 Dec 4;80(4):368-72. Am J Med Genet. 1998. PMID: 9856565

6

A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.

Qin N, Bartley J, Wang JC, Warburton PE. Qin N, et al. Among authors: bartley j. Cytogenet Genome Res. 2007;119(1-2):154-7. doi: 10.1159/000109633. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160796

7

Deletions of different segments of the long arm of chromosome 4.

Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanual B, Bartley JA, Hanson JW. Mitchell JA, et al. Among authors: bartley ja. Am J Med Genet. 1981;8(1):73-89. doi: 10.1002/ajmg.1320080110. Am J Med Genet. 1981. PMID: 7246608

8

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M; UCD Consortium, Scharschmidt BF. Lee B, et al. Among authors: bartley ja. Genet Med. 2015 Jul;17(7):561-8. doi: 10.1038/gim.2014.148. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503497 Free PMC article.

9

Linkage localization of Börjeson-Forssman-Lehmann syndrome.

Mathews KD, Ardinger HH, Nishimura DY, Buetow KH, Murray JC, Bartley JA. Mathews KD, et al. Among authors: bartley ja. Am J Med Genet. 1989 Dec;34(4):470-4. doi: 10.1002/ajmg.1320340403. Am J Med Genet. 1989. PMID: 2624254

10

Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS.

D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA. D'Antonio LL, et al. Among authors: bartley ja. Cleft Palate Craniofac J. 2001 Sep;38(5):455-67. doi: 10.1597/1545-1569_2001_038_0455_aoscic_2.0.co_2. Cleft Palate Craniofac J. 2001. PMID: 11522167

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