Carter MT - Search Results

1

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M. Naseer MI, et al. Among authors: carter mt. Am J Med Genet A. 2016 Nov;170(11):3018-3022. doi: 10.1002/ajmg.a.37845. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27531570

2

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.

Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. Nowaczyk MJ, et al. Among authors: carter mt. Am J Med Genet A. 2008 Feb 1;146A(3):354-60. doi: 10.1002/ajmg.a.32144. Am J Med Genet A. 2008. PMID: 18203180

3

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.

Carter MT, Picketts DJ, Hunter AG, Graham GE. Carter MT, et al. Am J Med Genet A. 2009 Feb;149A(2):246-50. doi: 10.1002/ajmg.a.32624. Am J Med Genet A. 2009. PMID: 19161141

4

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.

5

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.

6

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Carter MT, et al. Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29. Clin Genet. 2011. PMID: 21114665

7

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL. Carter MT, et al. Am J Med Genet A. 2011 Feb;155A(2):301-6. doi: 10.1002/ajmg.a.33841. Am J Med Genet A. 2011. PMID: 21271646

8

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE. Argiropoulos B, et al. Am J Med Genet A. 2011 Apr;155A(4):885-91. doi: 10.1002/ajmg.a.33918. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416596

9

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. Chung BH, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e516-20. doi: 10.1016/j.ejmg.2011.05.008. Epub 2011 Jun 29. Eur J Med Genet. 2011. PMID: 21689796

10

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.

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