Krebsová A - Search Results

1

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: krebsova a. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

2

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S. Dörk T, et al. Among authors: krebsova a. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353

3

Association of human aging with a functional variant of klotho.

Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Arking DE, et al. Among authors: krebsova a. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):856-61. doi: 10.1073/pnas.022484299. Epub 2002 Jan 15. Proc Natl Acad Sci U S A. 2002. PMID: 11792841 Free PMC article.

4

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A. Hennies HC, et al. Among authors: krebsova a. Am J Hum Genet. 1998 May;62(5):1052-61. doi: 10.1086/301818. Am J Hum Genet. 1998. PMID: 9545389 Free PMC article.

5

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.

Horn D, Krebsová A, Kunze J, Reis A. Horn D, et al. Among authors: krebsova a. Am J Med Genet. 2000 Jun 5;92(4):285-92. Am J Med Genet. 2000. PMID: 10842298

6

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

Krebsová A, Küster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC. Krebsová A, et al. Am J Hum Genet. 2001 Jul;69(1):216-22. doi: 10.1086/321284. Epub 2001 Jun 7. Am J Hum Genet. 2001. PMID: 11398099 Free PMC article.

7

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.

Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M Jr, Krebsová A, Macek M Sen, Klockgether T, Zühlke C, Laccone FA. Riess O, et al. Among authors: krebsova a. Hum Mol Genet. 1997 Aug;6(8):1289-93. doi: 10.1093/hmg/6.8.1289. Hum Mol Genet. 1997. PMID: 9259275

8

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

Křenková P, Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr. Křenková P, et al. Among authors: krebsova a. J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. J Cyst Fibros. 2013. PMID: 23276700 Free article.

9

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K. Neitzel H, et al. Among authors: krebsova a. Am J Hum Genet. 2002 Apr;70(4):1015-22. doi: 10.1086/339518. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857108 Free PMC article.

10

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC. Zielenski J, et al. Among authors: krebsova a. Nat Genet. 1999 Jun;22(2):128-9. doi: 10.1038/9635. Nat Genet. 1999. PMID: 10369249 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

40 results

Search Page

Filters