Innes AM - Search Results

1

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS. Shaheen R, et al. Among authors: innes am. Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360803 Free PMC article.

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

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.

6

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

7

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

8

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

9

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

10

Unique disease heritage of the Dutch-German Mennonite population.

Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. Orton NC, et al. Among authors: innes am. Am J Med Genet A. 2008 Apr 15;146A(8):1072-87. doi: 10.1002/ajmg.a.32061. Am J Med Genet A. 2008. PMID: 18348259 Review.

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