Innes AM - Search Results

1

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. Innes AM, et al. Clin Genet. 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x. Clin Genet. 2010. PMID: 20618352

2

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

Innes AM, Chudley AE, Carson NL, Dawson AJ. Innes AM, et al. 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.

3

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

Innes AM, Chudley AE. Innes AM, et al. 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.

4

Rhabdomyosarcoma in a patient with Cardio-Facio-Cutaneous syndrome.

Innes AM, Chudley AE. Innes AM, et al. J Pediatr Hematol Oncol. 2000 Nov-Dec;22(6):546-7. doi: 10.1097/00043426-200011000-00017. J Pediatr Hematol Oncol. 2000. PMID: 11132227 No abstract available.

5

Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.

Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, Beischel L, Thuillier L, Prip-Buus C, Singal R, Thompson JR, Prasad AN, Buist N, Greenberg CR. Prasad C, et al. Among authors: innes am. Mol Genet Metab. 2001 May;73(1):55-63. doi: 10.1006/mgme.2001.3149. Mol Genet Metab. 2001. PMID: 11350183

6

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. Innes AM, et al. Am J Med Genet. 2001 Jul 22;102(1):44-7. doi: 10.1002/1096-8628(20010722)102:1<44::aid-ajmg1410>3.0.co;2-7. Am J Med Genet. 2001. PMID: 11471171 Review.

7

Genetic landmarks through philately: Woodrow Wilson 'Woody' Guthrie and Huntington disease.

Innes AM, Chudley AE. Innes AM, et al. Clin Genet. 2002 Apr;61(4):263-7. doi: 10.1034/j.1399-0004.2002.610404.x. Clin Genet. 2002. PMID: 12030890

8

Bowen-Conradi syndrome: a clinical and genetic study.

Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. Lowry RB, et al. Among authors: innes am. Am J Med Genet A. 2003 Jul 30;120A(3):423-8. doi: 10.1002/ajmg.a.20059. Am J Med Genet A. 2003. PMID: 12838567

9

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM. Boycott KM, et al. Among authors: innes am. Am J Med Genet A. 2007 Aug 1;143A(15):1715-25. doi: 10.1002/ajmg.a.31832. Am J Med Genet A. 2007. PMID: 17603801

10

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K. Gripp KW, et al. Among authors: innes am. Am J Med Genet A. 2008 Mar 15;146A(6):683-90. doi: 10.1002/ajmg.a.32227. Am J Med Genet A. 2008. PMID: 18247425

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