Výsledky vyhledávání - "Dorota Simon"

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome

Autor: Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer

Publikováno v: Journal of applied genetics.

Partial 16p trisomy syndrome is a rare disorder typically characterized by psychomotor retardation, prenatal and postnatal growth deficiency, cleft palate, and facial dysmorphism, with some patients also presenting with heart defects and urogenital a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26bbdc68f296622914d2773005dc801
https://pubmed.ncbi.nlm.nih.gov/36586055

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Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion

Autor: Ewelina Bukowska-Olech, Monika Dmitrzak-Weglarz, Dawid Larysz, Bartosz Wojciechowicz, Joanna Walczak-Sztulpa, Dorota Simon, Aleksander Jamsheer

Publikováno v: Birth Defects Research. 112:740-748

Objective Craniosynostosis (CS) is the premature fusion of the cranial sutures, occurring either in isolated or syndromic form. Syndromic CS, which was described in over 180 genetic syndromes, accounts for 15-30% of all CS cases and usually originate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb1dc145cd45cd7da1225a81c5be33c
https://doi.org/10.1002/bdr2.1744

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Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Autor: Anna Latos-Bielenska, Tomasz Trzeciak, Aleksander Jamsheer, Anna Sowińska, Małgorzata Jamsheer-Bratkowska, Dorota Simon

Publikováno v: BMC Medical Genetics, Vol 14, Iss 1, p 13 (2013)
BMC Medical Genetics

Background A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f14b1958f5ce72e6b7f45f364ab9e44d
http://www.biomedcentral.com/1471-2350/14/13

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Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors

Autor: Magdalena, Mayer, Andrzej, Kulig, Jacek, Sygut, Adam, Dziki, Dorota, Simon, Anna, Latos-Bieleńska, Tomasz, Ferenc

Publikováno v: Polish journal of pathology : official journal of the Polish Society of Pathologists. 58(3)

To date there are only few reports concerning chromosomal changes in desmoid tumors. To extend the knowledge in this field we examined 19 samples from the patients diagnosed with desmoid tumors. In the present study formalin-fixed and paraffin-embedd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::93c726243175cd975a7127afa8d208f3
https://pubmed.ncbi.nlm.nih.gov/18074861

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