Slavotinek A - Search Results

1

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Nathanson J, et al. Among authors: slavotinek a. Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401257 Free PMC article.

2

Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

Slavotinek AM, Pike M, Mills K, Hurst JA. Slavotinek AM, et al. Am J Med Genet. 1996 Mar 1;62(1):42-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<42::AID-AJMG9>3.0.CO;2-Y. Am J Med Genet. 1996. PMID: 8779323

3

Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum.

Slavotinek A, Hellen E, Gould S, Coghill SB, Huson SM, Hurst JA. Slavotinek A, et al. Clin Dysmorphol. 1996 Jul;5(3):241-7. Clin Dysmorphol. 1996. PMID: 8818453

4

ACTH receptor mutation in a girl with familial glucocorticoid deficiency.

Slavotinek AM, Hurst JA, Dunger D, Wilkie AO. Slavotinek AM, et al. Clin Genet. 1998 Jan;53(1):57-62. doi: 10.1034/j.1399-0004.1998.531530112.x. Clin Genet. 1998. PMID: 9550364

5

Fryns syndrome: a review of the phenotype and diagnostic guidelines.

Slavotinek AM. Slavotinek AM. Am J Med Genet A. 2004 Feb 1;124A(4):427-33. doi: 10.1002/ajmg.a.20381. Am J Med Genet A. 2004. PMID: 14735597 Review.

6

Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors.

Slavotinek A, Parisi M, Heike C, Hing A, Huang E. Slavotinek A, et al. Am J Med Genet A. 2005 May 15;135(1):13-20. doi: 10.1002/ajmg.a.30694. Am J Med Genet A. 2005. PMID: 15810008 Review.

7

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM. Oberoi S, et al. Am J Med Genet A. 2005 Jul 30;136(3):275-7. doi: 10.1002/ajmg.a.30811. Am J Med Genet A. 2005. PMID: 15957158 Review.

8

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.

Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. Slavotinek AM, et al. Am J Med Genet A. 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900. Am J Med Genet A. 2005. PMID: 16114047

9

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Slavotinek A, Li C, Sherr EH, Chudley AE. Slavotinek A, et al. Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399. Am J Med Genet A. 2006. PMID: 16894541

10

Atrioventricular block and wiry hair in Teebi hypertelorism syndrome.

Han XD, Cox V, Slavotinek A. Han XD, et al. Among authors: slavotinek a. Am J Med Genet A. 2006 Sep 15;140(18):1960-4. doi: 10.1002/ajmg.a.31439. Am J Med Genet A. 2006. PMID: 16906548 Review.

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