Slavotinek AM - Search Results

1

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: slavotinek am. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.

2

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. Stone DL, et al. Nat Genet. 2000 May;25(1):79-82. doi: 10.1038/75637. Nat Genet. 2000. PMID: 10802661

3

Mutations in MKKS cause Bardet-Biedl syndrome.

Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238

4

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Am J Med Genet. 2000 Nov 27;95(3):208-15. Am J Med Genet. 2000. PMID: 11102925 Review.

5

Sudden death caused by pulmonary thromboembolism in Proteus syndrome.

Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. Slavotinek AM, et al. Clin Genet. 2000 Nov;58(5):386-9. doi: 10.1034/j.1399-0004.2000.580509.x. Clin Genet. 2000. PMID: 11140839

6

Unfolding the role of chaperones and chaperonins in human disease.

Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Trends Genet. 2001 Sep;17(9):528-35. doi: 10.1016/s0168-9525(01)02413-1. Trends Genet. 2001. PMID: 11525836 Review.

7

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG. Slavotinek AM, et al. Hum Genet. 2002 Jun;110(6):561-7. doi: 10.1007/s00439-002-0733-3. Epub 2002 May 9. Hum Genet. 2002. PMID: 12107442

8

Genetic modifiers in human development and malformation syndromes, including chaperone proteins.

Slavotinek A, Biesecker LG. Slavotinek A, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R45-50. doi: 10.1093/hmg/ddg099. Hum Mol Genet. 2003. PMID: 12668596 Review.

9

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Slavotinek AM, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P. Slavotinek AM, et al. Am J Med Genet A. 2004 Aug 15;129A(1):69-72. doi: 10.1002/ajmg.a.30071. Am J Med Genet A. 2004. PMID: 15266619

10

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

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