Nowaczyk MJ - Search Results

1

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

2

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.

3

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.

Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ. Huggins MJ, et al. Among authors: nowaczyk mj. Am J Med Genet. 1999 Nov 26;87(3):226-9. Am J Med Genet. 1999. PMID: 10564875

4

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

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

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.

Nowaczyk MJ, Huggins MJ, Tomkins DJ, Rossi E, Ramsay JA, Woulfe J, Scherer SW, Belloni E. Nowaczyk MJ, et al. Clin Genet. 2000 May;57(5):388-93. doi: 10.1034/j.1399-0004.2000.570510.x. Clin Genet. 2000. PMID: 10852374

7

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ. Zeesman S, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2012 Aug;158A(8):1832-6. doi: 10.1002/ajmg.a.35508. Epub 2012 Jun 29. Am J Med Genet A. 2012. PMID: 22753084

8

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.

Abdelgadir D, Nowaczyk MJ, Li C. Abdelgadir D, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2013 May;161A(5):1126-31. doi: 10.1002/ajmg.a.35812. Epub 2013 Mar 25. Am J Med Genet A. 2013. PMID: 23529842 Review.

9

Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions.

Nowaczyk MJ, Teshima IE, Siegel-Bartelt J, Clarke JT. Nowaczyk MJ, et al. Am J Med Genet. 1997 Apr 14;69(4):400-5. Am J Med Genet. 1997. PMID: 9098490

10

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. Nowaczyk MJ, et al. Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2. Clin Genet. 2014. PMID: 23379592 Free PMC article.

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