Witt M - Search Results

1

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Dequeker E, et al. Among authors: witt m. Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685558 Free PMC article.

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: witt m. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353

3

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M. Ziętkiewicz E, et al. Among authors: witt m. PLoS One. 2014 Feb 26;9(2):e89094. doi: 10.1371/journal.pone.0089094. eCollection 2014. PLoS One. 2014. PMID: 24586523 Free PMC article.

4

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.

Witt M, Pogorzelski A, Zebrak J, Rutkiewicz E. Witt M, et al. Clin Genet. 1996 Sep;50(3):149-51. doi: 10.1111/j.1399-0004.1996.tb02370.x. Clin Genet. 1996. PMID: 8946114

5

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype.

Skrzypczak U, Rutkiewicz E, Pogorzelski A, Witt M, Zietkiewicz E. Skrzypczak U, et al. Among authors: witt m. J Appl Genet. 2007;48(1):85-8. doi: 10.1007/BF03194662. J Appl Genet. 2007. PMID: 17272866

6

A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families.

Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K. Witt M, et al. Clin Genet. 1993 Jul;44(1):44-5. doi: 10.1111/j.1399-0004.1993.tb03840.x. Clin Genet. 1993. PMID: 7691449

7

Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient.

Witt M, Reis A, Cichy W, Dziechciowska K. Witt M, et al. Hum Hered. 1996 Nov-Dec;46(6):310-4. doi: 10.1159/000154370. Hum Hered. 1996. PMID: 8956026

8

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.

Geremek M, Schoenmaker F, Zietkiewicz E, Pogorzelski A, Diehl S, Wijmenga C, Witt M. Geremek M, et al. Among authors: witt m. Eur J Hum Genet. 2008 Jun;16(6):688-95. doi: 10.1038/ejhg.2008.5. Epub 2008 Feb 13. Eur J Hum Genet. 2008. PMID: 18270537

9

Correlation of phenotypic and genetic heterogeneity in cystic fibrosis: variability in sweat electrolyte levels contributes to heterogeneity and is increased with the XV-2c/KM19 B haplotype.

Witt M, Erickson RP, Ober C, Howatt WF, Farber R. Witt M, et al. Am J Med Genet. 1991 May 1;39(2):137-43. doi: 10.1002/ajmg.1320390205. Am J Med Genet. 1991. PMID: 2063915 Free article.

10

Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.

Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M. Zebrak J, et al. Among authors: witt m. Clin Genet. 2000 Jan;57(1):56-60. doi: 10.1034/j.1399-0004.2000.570108.x. Clin Genet. 2000. PMID: 10733236

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