Chudley AE - Search Results

1

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.

Mhanni AA, Hartley JN, Sanger WG, Chudley AE, Spriggs EL. Mhanni AA, et al. Among authors: chudley ae. Seizure. 2011 Nov;20(9):711-2. doi: 10.1016/j.seizure.2011.06.014. Epub 2011 Jul 19. Seizure. 2011. PMID: 21775168 Free article.

2

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.

3

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.

4

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

5

Fetal hepatic haemangioendothelioma: a new association with elevated maternal serum alpha-fetoprotein.

Mhanni AA, Chodirker BN, Evans JA, Menticouglou S, Wiseman N, MacDonald N, Chudley AE. Mhanni AA, et al. Among authors: chudley ae. Prenat Diagn. 2000 May;20(5):432-5. doi: 10.1002/(sici)1097-0223(200005)20:5<432::aid-pd821>3.0.co;2-z. Prenat Diagn. 2000. PMID: 10820416 No abstract available.

6

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features.

Dawson AJ, Putnam S, Schultz J, Riordan D, Prasad C, Greenberg CR, Chodirker BN, Mhanni AA, Chudley AE. Dawson AJ, et al. Among authors: chudley ae. Clin Genet. 2002 Dec;62(6):488-94. doi: 10.1111/j.1399-0004.2002.tb02255.x. Clin Genet. 2002. PMID: 12515261

7

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability.

Tyson C, Dawson AJ, Bal S, Tomiuk M, Anderson T, Tucker D, Riordan D, Chudoba I, Morash B, Mhanni A, Chudley AE, McGillivray B, Parslow M, Rappold G, Roeth R, Fawcett C, Qiao Y, Harvard C, Rajcan-Separovic E. Tyson C, et al. Among authors: chudley ae. Am J Med Genet A. 2009 Mar;149A(3):490-5. doi: 10.1002/ajmg.a.32535. Am J Med Genet A. 2009. PMID: 19213034

8

Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.

Cranston ME, Mhanni AA, Marles SL, Chudley AE. Cranston ME, et al. Among authors: chudley ae. Can J Clin Pharmacol. 2009 Winter;16(1):e234-41. Epub 2009 Apr 16. Can J Clin Pharmacol. 2009. PMID: 19372601

9

Trends in telehealth versus on-site clinical genetics appointments in Manitoba: a comparative study.

Elliott AM, Mhanni AA, Marles SL, Greenberg CR, Chudley AE, Nyhof GC, Chodirker BN. Elliott AM, et al. Among authors: chudley ae. J Genet Couns. 2012 Apr;21(2):337-44. doi: 10.1007/s10897-011-9406-5. Epub 2011 Oct 15. J Genet Couns. 2012. PMID: 21997346

10

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.

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