Vargervik K - Search Results

1

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. Slavotinek A, et al. Among authors: vargervik k. Am J Med Genet A. 2009 Aug;149A(8):1814-7. doi: 10.1002/ajmg.a.32947. Am J Med Genet A. 2009. PMID: 19610084 Free PMC article. No abstract available.

2

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM. Oberoi S, et al. Among authors: vargervik k. 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.

3

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Hsieh EW, Vargervik K, Slavotinek AM. Hsieh EW, et al. Among authors: vargervik k. Am J Med Genet A. 2008 Sep 15;146A(18):2337-45. doi: 10.1002/ajmg.a.32368. Am J Med Genet A. 2008. PMID: 18697196

4

Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.

Tao YC, Slavotinek AM, Vargervik K, Oberoi S. Tao YC, et al. Among authors: vargervik k. Cleft Palate Craniofac J. 2010 May;47(3):253-8. doi: 10.1597/08-282.1. Cleft Palate Craniofac J. 2010. PMID: 19860525

5

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. Among authors: vargervik k. 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

6

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.

Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. Hogue J, et al. Among authors: vargervik k. Am J Med Genet A. 2010 Oct;152A(10):2574-7. doi: 10.1002/ajmg.a.33596. Am J Med Genet A. 2010. PMID: 20734337

7

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.

Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A. Minzer-Conzetti K, et al. Among authors: vargervik k. Clin Dysmorphol. 2008 Jan;17(1):1-4. doi: 10.1097/MCD.0b013e3282efdad8. Clin Dysmorphol. 2008. PMID: 18049072

8

Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.

Slavotinek AM, Vargervik K. Slavotinek AM, et al. Among authors: vargervik k. Clin Dysmorphol. 2011 Jan;20(1):11-14. doi: 10.1097/MCD.0b013e32833f138c. Clin Dysmorphol. 2011. PMID: 21188766 No abstract available.

9

Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic.

Hsieh EW, Yeh RF, Oberoi S, Vargervik K, Slavotinek AM. Hsieh EW, et al. Among authors: vargervik k. Am J Med Genet A. 2007 Oct 1;143A(19):2347-51. doi: 10.1002/ajmg.a.31922. Am J Med Genet A. 2007. PMID: 17726687 No abstract available.

10

Velocardiofacial syndrome with single central incisor.

Oberoi S, Vargervik K. Oberoi S, et al. Among authors: vargervik k. Am J Med Genet A. 2005 Jan 15;132A(2):194-7. doi: 10.1002/ajmg.a.30434. Am J Med Genet A. 2005. PMID: 15578625

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