Chudley AE - Search Results

1

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium; Triggs-Raine B, Zelinski T. Doherty D, et al. Among authors: chudley ae. Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578326 Free PMC article.

2

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.

Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI. Greenberg CR, et al. Among authors: chudley ae. Hum Mol Genet. 1995 Mar;4(3):493-5. doi: 10.1093/hmg/4.3.493. Hum Mol Genet. 1995. PMID: 7795610 No abstract available.

3

A familial disorder with duodenal atresia and tetralogy of Fallot.

Lemire EG, Evans JA, Giddins NG, Harman CR, Wiseman NE, Chudley AE. Lemire EG, et al. Among authors: chudley ae. Am J Med Genet. 1996 Dec 2;66(1):39-44. doi: 10.1002/(SICI)1096-8628(19961202)66:1<39::AID-AJMG9>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8957509

4

SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.

Lemire EG, Hildes-Ripstein GE, Reed MH, Chudley AE. Lemire EG, et al. Among authors: chudley ae. Am J Med Genet. 1998 Jan 23;75(3):256-60. doi: 10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9475592

5

Vertical transmission of the Ohdo blepharophimosis syndrome.

Mhanni AA, Dawson AJ, Chudley AE. Mhanni AA, et al. Among authors: chudley ae. Am J Med Genet. 1998 May 1;77(2):144-8. Am J Med Genet. 1998. PMID: 9605288 Review.

6

Genetic landmarks through philately--Kabuki theater and Kabuki syndrome.

Mhanni AA, Chudley AE. Mhanni AA, et al. Among authors: chudley ae. Clin Genet. 1999 Aug;56(2):116-7. doi: 10.1034/j.1399-0004.1999.560203.x. Clin Genet. 1999. PMID: 10517246 Review. No abstract available.

7

Kabuki syndrome: description of dental findings in 8 patients.

Mhanni AA, Cross HG, Chudley AE. Mhanni AA, et al. Among authors: chudley ae. Clin Genet. 1999 Aug;56(2):154-7. doi: 10.1034/j.1399-0004.1999.560211.x. Clin Genet. 1999. PMID: 10517254

8

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype.

Innes AM, Chudley AE, Carson NL, Dawson AJ. Innes AM, et al. Among authors: chudley ae. Clin Genet. 1999 Sep;56(3):238-41. doi: 10.1034/j.1399-0004.1999.560311.x. Clin Genet. 1999. PMID: 10563486 No abstract available.

9

Genetic landmarks through philately--Henry Louis 'Lou' Gehrig and amyotrophic lateral sclerosis.

Innes AM, Chudley AE. Innes AM, et al. Among authors: chudley ae. Clin Genet. 1999 Dec;56(6):425-7. doi: 10.1034/j.1399-0004.1999.560603.x. Clin Genet. 1999. PMID: 10665660 No abstract available.

10

Hallowed beginning.

Lemire EG, Chudley AE. Lemire EG, et al. Among authors: chudley ae. Clin Genet. 2000 Feb;57(2):101-2. doi: 10.1034/j.1399-0004.2000.570202.x. Clin Genet. 2000. PMID: 10735629 No abstract available.

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