Innis JW - Search Results

1

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW. Owens KM, et al. Among authors: innis jw. Am J Med Genet A. 2013 May;161A(5):1019-27. doi: 10.1002/ajmg.a.35843. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532960 Free article.

2

Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.

McDonald M, Maynard S, Sheldon S, Innis J. McDonald M, et al. Am J Med Genet. 1994 Feb 1;49(3):288-93. doi: 10.1002/ajmg.1320490309. Am J Med Genet. 1994. PMID: 8209888 Free article. Review.

3

The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation.

Mortlock DP, Post LC, Innis JW. Mortlock DP, et al. Among authors: innis jw. Nat Genet. 1996 Jul;13(3):284-9. doi: 10.1038/ng0796-284. Nat Genet. 1996. PMID: 8673126

4

Mutation of HOXA13 in hand-foot-genital syndrome.

Mortlock DP, Innis JW. Mortlock DP, et al. Among authors: innis jw. Nat Genet. 1997 Feb;15(2):179-80. doi: 10.1038/ng0297-179. Nat Genet. 1997. PMID: 9020844

5

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.

Innis JW, Asher JH Jr, Poznanski AK, Sheldon S. Innis JW, et al. Am J Med Genet. 1997 Aug 8;71(2):150-5. doi: 10.1002/(sici)1096-8628(19970808)71:2<150::aid-ajmg6>3.0.co;2-1. Am J Med Genet. 1997. PMID: 9217213 Free article.

6

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. Innis JW, et al. Hum Mutat. 2002 May;19(5):573-4. doi: 10.1002/humu.9036. Hum Mutat. 2002. PMID: 11968094 Free article.

7

Possible third case of Lin-Gettig syndrome.

Hedera P, Innis JW. Hedera P, et al. Among authors: innis jw. Am J Med Genet. 2002 Jul 15;110(4):380-3. doi: 10.1002/ajmg.10460. Am J Med Genet. 2002. PMID: 12116213 Free article. Review.

8

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Paznekas WA, et al. Among authors: innis jw. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27. Am J Hum Genet. 2003. PMID: 12457340 Free PMC article.

9

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.

Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Keegan CE, et al. Among authors: innis jw. Am J Med Genet A. 2004 Mar 15;125A(3):293-8. doi: 10.1002/ajmg.a.20455. Am J Med Genet A. 2004. PMID: 14994240

10

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.

Wechsler SB, Lehoczky JA, Hall JG, Innis JW. Wechsler SB, et al. Among authors: innis jw. Clin Dysmorphol. 2004 Apr;13(2):63-69. Clin Dysmorphol. 2004. PMID: 15057119

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