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Effect of genotype on selected clinical features of Polish cystic fibrosis adults

100%

Majka L., Pogorzelski A., Mlynarczyk W., Zebrak J., Rutkiewicz E., Nowicka A., Witt M.

Journal of Applied Genetics

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2001

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tom 42

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nr 3

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X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation

100%

Popowska E., Pronicka E., Sulek A., Jurkiewicz D., Rowinska E., Sykut-Cegielska J., Rump Z., Arasimowicz E., Krajewska-Walasek M.

Journal of Applied Genetics

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2001

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tom 42

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nr 1

3

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype

100%

Smigiel R., Lebioda A., Patkowski D., Czernik J., Dobosz T., Pesz K., Kaczmarz M., Sasiadek M. M.

Journal of Applied Genetics

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2006

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tom 47

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nr 3

Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2,3,7,11,13,14 and 15 of the RET gene. Molecular results were compared with clinical and long-term follow-up data in 70 Polish patients with HSCR (84.3% with a short segment and 15.7% with a long segment of aganglionic gut). Single-nucleotide polymorphisms were analysed by using the minisequencing SNaPshot multiplex method. The 135G>A polymorphism in RET exon 2 was overrepresented in HSCR patients, compared with a healthy control group. Moreover, the 135G>A variant was shown to be associated with the severe HSCR phenotype. Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR.

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Modified effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis

100%

Urquhart D. S., Allen J., Elrayess M., Fidler K., Klein N., Jaffe A.

Archivum Immunologiae et Therapiae Experimentalis

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2006

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tom 54

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nr 4

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Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

84%

Smigiel R., Szafranska A., Czyzewska M., Rauch A., Zweier C., Patkowski D.

Journal of Applied Genetics

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2010

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tom 51

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nr 1

111-113

We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).

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Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2

67%

Popowska E., Ciara E., Rokicki D., Pronicka E.

Journal of Applied Genetics

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1999

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tom 40

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nr 1

Ograniczanie wyników

Effect of genotype on selected clinical features of Polish cystic fibrosis adults

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype

Modified effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2