Wyniki wyszukiwania - Biblioteka Nauki

1

Jakosc higieniczna mleka dostarczanego do skupu przez rolnikow indywidualnych

100%

Krzyzanowski J. , Wrona Z. , Wierzba J.

Annales Universitatis Mariae Curie-Skłodowska. Sectio DD:Medicina Veterinaria

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1996

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tom 51

87-94

2

Checinsko-Kielecki Geologiczny Park Krajobrazowy

100%

Wierzba J. , Kapuscinski J.

Przyroda Polska

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1996

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nr 09

8-9

3

Bartek na szczudlach

100%

Wierzba J.

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nr 02

6

4

Ratowanie swietokrzyskiego Bartka

100%

Wierzba J.

Przyroda Polska

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1996

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nr 11

6-7

5

Arboretum karnieszewickie

87%

Wierzba J.

Przyroda Polska

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1996

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nr 10

12

6

Obszary chronionego krajobrazu

87%

Wierzba J.

Przyroda Polska

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1996

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nr 06

20-21

7

Rzadkie choroby układu nerwowego tematem wykładów Tygodnia Mózgu w Szczecinie w 2013 roku

75%

Skoczylas M. , Siderius L. , Wierzba J. , Sagan L. , Sawicki M. , Walecka A. , Rudnicki J.

Wszechświat

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2013

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tom 114

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nr 10-12

8

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

75%

Kuzniacka A. , Wierzba J. , Ratajska M. , Lipska B. S. , Koczkowska M. , Malinowska M. , Limon J.

Journal of Applied Genetics

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2013

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tom 54

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nr 1

EN

Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About half of the cases result from mutations in the NIPBL gene coding delangin, a protein regulating the initialisation of cohesion. To date, approximately 250 point mutations have been identified in more than 300 CdLS patients worldwide. In the present study, conducted on a group of 64 unrelated Polish CdLS patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. Additionally, large genomic deletions on chromosome 5p13 encompassing the NIPBL gene locus were detected in two patients with the most severe CdLS phenotype. Taken together, 42 % of patients were found to have a deleterious alteration affecting the NIPBL gene, by and large private ones (89 %). The review of the types of mutations found so far in Polish patients, their frequency and correlation with the severity of the observed phenotype shows that Polish CdLS cases do not significantly differ from other populations.

9

Rajd Edukacji Ekologicznej

75%

Wierzba J.

Przyroda Polska

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1996

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nr 09

20-21

10

Las ciagle nieznany i niedoceniony

75%

Wierzba J.

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nr 12

20

11

Jubileusz prof.Jerzego Cmaka

75%

Wierzba J.

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2003

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nr 01

36

12

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability

63%

Jamsheer A. , Henggeler C. , Wierzba J. , Loeys B. , De P. A. , Stheneur C. , Badziag N. , Matuszewska K. , Matyas G. , Latos-Bielenska A.

Journal of Applied Genetics

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2009

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tom 50

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nr 4

405-410

EN

We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed a heterozygous missense mutation (c.1582C>T, p.R528C) in the transforming growth factor beta receptor II gene (TGFBR2). This mutation has been previously associated with LDS in 5 unrelated cases, and was never reported in patients with other Marfan-related disorders. Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome - consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula - was present in all 6 cases. Interestingly, none of the 5 individuals who underwent psychological evaluation showed developmental delay. The pattern of all other LDS features showed interindividual variability. Our data support the recently reported observation that symptoms of LDS can develop at a very young age, making early diagnosis and management essential for these patients. This is the first report on a Polish infant with typical LDS symptoms caused by a TGFBR2 mutation.