Wyniki wyszukiwania

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Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss

100%

Krawczynski M. R., Dmenska H., Witt M.

Journal of Applied Genetics

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2004

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tom 45

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nr 1

2

Mechanisms of transcription regulation

75%

Poluha D.

Applied Biology Communications. Lublin Scientific Center

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1991

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tom 01

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nr 6

3

Inv in a patient hypogonadotropic hypogonadism

75%

Helszer Z., Lach J., Nowacka J., Constantinou M., Kaluzewski B.

Journal of Applied Genetics

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2003

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tom 44

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nr 2

4

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

75%

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

5

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

75%

Bocian E., Suchenek K., Obersztyn E., Nowakowska B., Mazurczak T.

Journal of Applied Genetics

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2005

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tom 46

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nr 1

We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband - a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism - was referred for subtelomere testing. FISH with a Multiprobe Chromoprobe T System (CytoCell) and with several BAC clones mapping to both subtelomere regions of chromosome 5, revealed a recombinant chromosome rec(5)dup(5q) originating from a paternal pericentric inversion inv(5)(p15.33q35.3). The same inversion was present in the proband’s father’s twin-brother and rec(5)dup(5q) was also identified in his two mentally retarded daughters. The distance of breakpoints from the telomere was: 0.234-1.4 Mb for 5p and 4.1 —4.8 Mb for 5q. HR-CGH analysis confirmed the duplication of the 5q subtelomeric region but did not identify any concomitant deletion in the 5p subtelomere. Precise mapping of the aneusomic regions in the proband enabled mapping the cat cry and speech delay to 5p15.33, making the earlier localizations of these features more precise. Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny.

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Communication of the intracranial space with sphenoid bone marrow in mice

63%

Srebro Z., Pierscinska E., Plonkowa I.

Folia Biologica

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1993

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tom 41

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nr 1-2

7

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

63%

Kochanski A.

Journal of Applied Genetics

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2006

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tom 47

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nr 3

Knowledge whether a certain DNA variant is a pathogenic mutation or a harmless polymorphism is a critical issue in medical genetics, in which results of a molecular analysis may serve as a basis for diagnosis and genetic counseling. Due to its genetic heterogeneity expressed at the levels of loci, genes and mutations, Charcot-Marie-Tooth (CMT) disease can serve as a model group of clinically homogenous diseases for studying the pathogenicity of mutations. Close to a 17p11.2-p12 duplication occurring in 70% of patients with the demyelinating form of CMT disease, numerous mutations have been identified in poorly characterized genes coding for proteins of an unknown function. Functional analyses, segregation analyses of large pedigrees, and inclusion of large control groups are required to assess the potential pathogenicity of CMT mutations. Hence, the pathogenicity of numerous CMT mutations remains unclear. Some variants detected in the CMT genes and originally described as pathogenic mutations have been shown to have a polymorphic character. In contrast, polymorphisms initially considered harmless were later reclassified as pathogenic mutations. However, the process of assessing the pathogenicity of mutations, as presented in this study for CMT disorders, is a more general issue concerning all disorders with a genetic background. Since the number of DNA variants is still growing, in the near future geneticists will increasingly have to cope with the problem of pathogenicity of identified genetic variants.

8

EBV - infected LCL and B-celL exhibit different expression pattern of p27 and Rb genes family

51%

Marzec B., Kubiatowski T., Gawlowicz M., Szczesniak D., Filip A., Koczkodaj D., Nesina I., Wojcierowski J.

Bulletin of the Veterinary Institute in Puławy. Supplement

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2002

Ograniczanie wyników

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss

Mechanisms of transcription regulation

Inv in a patient hypogonadotropic hypogonadism

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

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

Communication of the intracranial space with sphenoid bone marrow in mice

How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?

EBV - infected LCL and B-celL exhibit different expression pattern of p27 and Rb genes family