Sperling K - Search Results

1

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. Among authors: sperling k. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227

2

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.

Varon R, Magdorf K, Staab D, Wahn HU, Krawczak M, Sperling K, Reis A. Varon R, et al. Among authors: sperling k. Hum Mol Genet. 1995 Aug;4(8):1463-4. doi: 10.1093/hmg/4.8.1463. Hum Mol Genet. 1995. PMID: 7581390 No abstract available.

3

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP. Tassabehji M, et al. Among authors: sperling k. Hum Mol Genet. 1994 Jul;3(7):1069-74. doi: 10.1093/hmg/3.7.1069. Hum Mol Genet. 1994. PMID: 7981674

4

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K. Saar K, et al. Among authors: sperling k. Am J Hum Genet. 1997 Mar;60(3):605-10. Am J Hum Genet. 1997. PMID: 9042920 Free PMC article.

5

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.

Macek M Jr, Macek M Sr, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Macek M Jr, et al. Among authors: sperling k. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

6

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. Varon R, et al. Among authors: sperling k. Eur J Hum Genet. 2000 Nov;8(11):900-2. doi: 10.1038/sj.ejhg.5200554. Eur J Hum Genet. 2000. PMID: 11093281

7

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M. Seemanová E, et al. Among authors: sperling k. J Med Genet. 2006 Mar;43(3):218-24. doi: 10.1136/jmg.2005.035287. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033915 Free PMC article.

8

Cancer risk of heterozygotes with the NBN founder mutation.

Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K. Seemanová E, et al. Among authors: sperling k. J Natl Cancer Inst. 2007 Dec 19;99(24):1875-80. doi: 10.1093/jnci/djm251. Epub 2007 Dec 11. J Natl Cancer Inst. 2007. PMID: 18073374

9

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M. Seemanova E, et al. Among authors: sperling k. PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016. PLoS One. 2016. PMID: 27936167 Free PMC article.

10

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

Macek M Jr, Vavrová V, Böhm I, Stuhrmann M, Reis A, Duspivová R, Macek M, Sperling K, Krawczak M, Schmidtke J. Macek M Jr, et al. Among authors: sperling k. Hum Genet. 1990 Sep;85(4):417-8. doi: 10.1007/BF02428289. Hum Genet. 1990. PMID: 2210755

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