Carter MT - Search Results

1

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.

McMillan HJ, Carter MT, Jacob PJ, Laffan EE, O'Connor MD, Boycott KM. McMillan HJ, et al. Among authors: carter mt. Muscle Nerve. 2009 Mar;39(3):396-9. doi: 10.1002/mus.21222. Muscle Nerve. 2009. PMID: 19208398

2

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Carter MT, et al. Am J Med Genet A. 2009 Aug;149A(8):1712-21. doi: 10.1002/ajmg.a.32957. Am J Med Genet A. 2009. PMID: 19606488 Free PMC article.

3

Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees.

Carter MT, Barrowman NJ, St Pierre SA, Emanuel BS, Boycott KM. Carter MT, et al. Am J Med Genet A. 2010 Jan;152A(1):212-4. doi: 10.1002/ajmg.a.33166. Am J Med Genet A. 2010. PMID: 20034094 Free PMC article. No abstract available.

4

Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity.

Carter MT, Boycott KM. Carter MT, et al. Am J Med Genet A. 2011 Sep;155A(9):2078-9. doi: 10.1002/ajmg.a.34149. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834052 No abstract available.

5

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. Huang L, et al. Among authors: carter mt. Orphanet J Rare Dis. 2012 Sep 17;7:67. doi: 10.1186/1750-1172-7-67. Orphanet J Rare Dis. 2012. PMID: 22986007 Free PMC article.

6

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium; Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. McDonell LM, et al. Among authors: carter mt. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542699 Free PMC article.

7

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.

Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT; Care4Rare Canada Consortium. Ejaz R, et al. Among authors: carter mt. Am J Med Genet A. 2016 Apr;170A(4):1070-5. doi: 10.1002/ajmg.a.37541. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754023

8

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Carter MT, Venkateswaran S, Shapira-Zaltsberg G, Davila J, Humphreys P; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. Carter MT, et al. Clin Genet. 2019 May;95(5):601-606. doi: 10.1111/cge.13523. Epub 2019 Mar 19. Clin Genet. 2019. PMID: 30790272 Review.

9

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.

Carter MT, McMillan HJ, Tomin A, Weiss N. Carter MT, et al. Channels (Austin). 2019 Dec;13(1):153-161. doi: 10.1080/19336950.2019.1614415. Channels (Austin). 2019. PMID: 31070086 Free PMC article.

10

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center; Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C. Bend R, et al. Among authors: carter mt. Eur J Hum Genet. 2020 Jan;28(1):76-87. doi: 10.1038/s41431-019-0487-1. Epub 2019 Aug 8. Eur J Hum Genet. 2020. PMID: 31395947 Free PMC article.

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