Kmoch S - Search Results

1

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Among authors: kmoch s. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749309 Free PMC article.

2

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.

Sebesta I, Krijt J, Kmoch S, Hartmannová H, Wojda M, Zeman J. Sebesta I, et al. Among authors: kmoch s. J Inherit Metab Dis. 1997 Jul;20(3):343-4. doi: 10.1023/a:1005361408031. J Inherit Metab Dis. 1997. PMID: 9266351 Clinical Trial. No abstract available.

3

Identification and determination of succinyladenosine in human cerebrospinal fluid.

Krijt J, Kmoch S, Hartmannová H, Havlícek V, Sebesta I. Krijt J, et al. Among authors: kmoch s. J Chromatogr B Biomed Sci Appl. 1999 Apr 16;726(1-2):53-8. doi: 10.1016/s0378-4347(99)00024-9. J Chromatogr B Biomed Sci Appl. 1999. PMID: 10348170

4

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

Stibůrková B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S. Stibůrková B, et al. Among authors: kmoch s. Am J Hum Genet. 2000 Jun;66(6):1989-94. doi: 10.1086/302936. Epub 2000 Apr 25. Am J Hum Genet. 2000. PMID: 10780922 Free PMC article.

5

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I. Kmoch S, et al. Hum Mol Genet. 2000 Jun 12;9(10):1501-13. doi: 10.1093/hmg/9.10.1501. Hum Mol Genet. 2000. PMID: 10888601

6

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.

Kmoch S, Brynda J, Asfaw B, Bezouska K, Novák P, Rezácová P, Ondrová L, Filipec M, Sedlácek J, Elleder M. Kmoch S, et al. Hum Mol Genet. 2000 Jul 22;9(12):1779-86. doi: 10.1093/hmg/9.12.1779. Hum Mol Genet. 2000. PMID: 10915766

7

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J. Dvoráková L, et al. Among authors: kmoch s. Hum Mutat. 2001;18(1):52-60. doi: 10.1002/humu.1149. Hum Mutat. 2001. PMID: 11438993

8

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S. Stibůrková B, et al. Among authors: kmoch s. Eur J Hum Genet. 2003 Feb;11(2):145-54. doi: 10.1038/sj.ejhg.5200937. Eur J Hum Genet. 2003. PMID: 12634862

9

Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.

Zikánová M, Krijt J, Hartmannová H, Kmoch S. Zikánová M, et al. Among authors: kmoch s. J Inherit Metab Dis. 2005;28(4):493-9. doi: 10.1007/s10545-005-0493-z. J Inherit Metab Dis. 2005. PMID: 15902552

10

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Hodanová K, Majewski J, Kublová M, Vyletal P, Kalbácová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S. Hodanová K, et al. Among authors: kmoch s. Kidney Int. 2005 Oct;68(4):1472-82. doi: 10.1111/j.1523-1755.2005.00560.x. Kidney Int. 2005. PMID: 16164624 Free article.

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