Carter MT - Search Results

1

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Balci TB, Strong A, Kalish JM, Zackai E, Maris JM, Reilly A, Surrey LF, Wertheim GB, Marcadier JL, Graham GE, Carter MT. Balci TB, et al. Among authors: carter mt. Am J Med Genet A. 2020 Apr;182(4):673-680. doi: 10.1002/ajmg.a.61475. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961069

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

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

6

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.

7

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D. Carter MT, et al. Am J Med Genet A. 2012 Aug;158A(8):1977-81. doi: 10.1002/ajmg.a.35436. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711382 Review.

8

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: carter mt. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214

9

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT. Hashemi B, et al. Among authors: carter mt. Am J Med Genet A. 2015 Sep;167A(9):2098-102. doi: 10.1002/ajmg.a.37134. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946043

10

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

Nimmo GA, Guerin A, Badilla-Porras R, Stavropoulos DJ, Yoon G, Carter MT. Nimmo GA, et al. Among authors: carter mt. Am J Med Genet A. 2016 Mar;170(3):712-6. doi: 10.1002/ajmg.a.37483. Epub 2015 Dec 8. Am J Med Genet A. 2016. PMID: 26647099

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