Nowaczyk MJ - Search Results

1

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P. Wang JC, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2009 Mar;149A(3):372-9. doi: 10.1002/ajmg.a.32675. Am J Med Genet A. 2009. PMID: 19213033

2

4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations.

Wang JC, Fisker T, Dang L, Teshima I, Nowaczyk MJ. Wang JC, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2009 Oct;149A(10):2274-9. doi: 10.1002/ajmg.a.33020. Am J Med Genet A. 2009. PMID: 19764020

3

An uncommon 3.4-Mb interstitial deletion at 3q29.

Wang JC, Naik H, Khan A, Nowaczyk MJM. Wang JC, et al. Clin Dysmorphol. 2010 Jul;19(3):133-136. doi: 10.1097/MCD.0b013e3283387b21. Clin Dysmorphol. 2010. PMID: 20414105 No abstract available.

4

De novo 1q32q44 duplication and distal 1q trisomy syndrome.

Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J. Nowaczyk MJ, et al. Am J Med Genet A. 2003 Jul 15;120A(2):229-33. doi: 10.1002/ajmg.a.20028. Am J Med Genet A. 2003. PMID: 12833404 Review.

5

De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion.

Sathya P, Tomkins DJ, Freeman V, Paes B, Nowaczyk MJ. Sathya P, et al. Among authors: nowaczyk mj. Am J Med Genet. 1999 May 21;84(2):116-9. doi: 10.1002/(sici)1096-8628(19990521)84:2<116::aid-ajmg6>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10323735

6

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Zeesman S, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2006 Mar 1;140(5):509-14. doi: 10.1002/ajmg.a.31110. Am J Med Genet A. 2006. PMID: 16470794

7

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. 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

8

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Jobling R, et al. J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599419

9

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.

Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW. Schlade-Bartusiak K, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2005 Oct 15;138A(3):218-24. doi: 10.1002/ajmg.a.30942. Am J Med Genet A. 2005. PMID: 16152642

10

Ring chromosome 22 and autism: report and review.

MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ. MacLean JE, et al. Among authors: nowaczyk mj. Am J Med Genet. 2000 Feb 28;90(5):382-5. Am J Med Genet. 2000. PMID: 10706359

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