Zeesman S - Search Results

1

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.

Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA. Nowaczyk MJ, et al. Among authors: zeesman s. Am J Med Genet A. 2003 Dec 1;123A(2):179-82. doi: 10.1002/ajmg.a.20215. Am J Med Genet A. 2003. PMID: 14598343

2

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature.

Nowaczyk MJ, Zeesman S, Kam A, Taylor SA, Carter RF, Whelan DT. Nowaczyk MJ, et al. Among authors: zeesman s. Am J Med Genet A. 2004 Feb 15;125A(1):73-6. doi: 10.1002/ajmg.a.20458. Am J Med Genet A. 2004. PMID: 14755470 Review.

3

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. 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

4

Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.

Zeesman S, Carson N, Whelan DT. Zeesman S, et al. Am J Med Genet. 2002 Jan 22;107(3):222-6. doi: 10.1002/ajmg.10141. Am J Med Genet. 2002. PMID: 11807903 Review.

5

Pregnancy in a healthy woman with untreated citrullinemia.

Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT. Potter MA, et al. Among authors: zeesman s. Am J Med Genet A. 2004 Aug 15;129A(1):77-82. doi: 10.1002/ajmg.a.20559. Am J Med Genet A. 2004. PMID: 15266621

6

Paternal transmission of fragile X syndrome.

Zeesman S, Zwaigenbaum L, Whelan DT, Hagerman RJ, Tassone F, Taylor SA. Zeesman S, et al. Am J Med Genet A. 2004 Aug 30;129A(2):184-9. doi: 10.1002/ajmg.a.30191. Am J Med Genet A. 2004. PMID: 15316964

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. 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

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ. Zeesman S, et al. Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6. Am J Med Genet A. 2015. PMID: 25287655

9

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.

Speevak MD, Zeesman S, Leonard N, Nowaczyk MJ. Speevak MD, et al. Among authors: zeesman s. Am J Med Genet A. 2013 Apr;161A(4):913-5. doi: 10.1002/ajmg.a.35828. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495039 No abstract available.

10

Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance.

Nowaczyk MJ, Zeesman S, Waye JS, Douketis JD. Nowaczyk MJ, et al. Among authors: zeesman s. J Pediatr. 2004 Oct;145(4):530-5. doi: 10.1016/j.jpeds.2004.06.045. J Pediatr. 2004. PMID: 15480380

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