Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Angelika Wawrzkiewicz-Witkowska"'
Publikováno v:
Annales Academiae Medicae Silesiensis, Vol 77, Pp 151-157 (2023)
INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically determined and hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene. The onset is in the 3r
Externí odkaz:
https://doaj.org/article/322d6c1c4057488c9f7d4e5a9b50b56f
Autor:
Robert-Jan H. Galjaard, Jakub Behrendt, Malgorzata I. Srebniak, Urszula Godula-Stuglik, Marjan Boter, Agnieszka Tomaszewska, Angelika Wawrzkiewicz-Witkowska, Agnieszka Podbiol-Palenta, Marnix J. Bos
Publikováno v:
American Journal of Medical Genetics Part A, 170(5), 1283-1287. Wiley-Liss Inc.
Tetrasomy 14q11q13 is a very rare chromosome aberration. So far, only five patients with such an imbalance were described. All these patients had a de novo marker chromosome idic(14)(q13) leading to a partial tetrasomy of chromosome 14. We report on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781cf032c2fc4e2d24ab803d681ceace
https://doi.org/10.1002/ajmg.a.37565
https://doi.org/10.1002/ajmg.a.37565
Autor:
Monika Kugaudo, Anna Tańska, Agata Cieślikowska, Agnieszka Tomaszewska, Małgorzata Krajewska-Walasek, Marzena Kucharczyk, Dorota Jurkiewicz, Elżbieta Ciara, Angelika Wawrzkiewicz-Witkowska
Publikováno v:
Pediatrics International. 57:486-491
Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5e6450aa77e5e724f4cd3ff74d0143c
https://doi.org/10.1111/ped.12611
https://doi.org/10.1111/ped.12611
Autor:
Katarzyna Ziora, Joanna Oświęcimska, Halina Borgiel-Marek, Agnieszka Szymlak, Maciej Kajor, Angelika Wawrzkiewicz-Witkowska, Agata Mikołajczak
Publikováno v:
Pediatria Polska. 90:135-141
Cherubism is a rare autosomal dominant genetic disorder. It is caused by SH3BP2 gene mutation on chromosome 4p16.3. Excessive osteoclast activity usually leads to symmetric bone destruction of the mandible or maxilla and formation of giant cell tumor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::449c0ed5a549d8e6b009a8b428447faa
https://doi.org/10.1016/j.pepo.2014.09.008
https://doi.org/10.1016/j.pepo.2014.09.008
Autor:
Dorota, Jurkiewicz, Monika, Kugaudo, Anna, Tańska, Angelika, Wawrzkiewicz-Witkowska, Agnieszka, Tomaszewska, Marzena, Kucharczyk, Agata, Cieślikowska, Elżbieta, Ciara, Małgorzata, Krajewska-Walasek
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 57(3)
Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d78da1cd51c7ed35c7eb7db66c3f3d0
https://pubmed.ncbi.nlm.nih.gov/26012727
https://pubmed.ncbi.nlm.nih.gov/26012727
Autor:
Gabriela Geisler, Marjan Boter, Robert-Jan H. Galjaard, Stanisław Zajączek, Angelika Wawrzkiewicz-Witkowska, Agnieszka Podbiol-Palenta, Malgorzata I. Srebniak, Agnieszka Tomaszewska
Publikováno v:
American Journal of Medical Genetics Part A, 161, 2347-2351. Wiley-Liss Inc.
Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377cf4b55a6bcdab3ae6b0db9e99e517
https://pubmed.ncbi.nlm.nih.gov/23918240
https://pubmed.ncbi.nlm.nih.gov/23918240
Autor:
Malgorzata Kowalczyk, Angelika Wawrzkiewicz-Witkowska, M Constantinou, Jan Kowalski, B Kałużewski, Stanisław Zajączek, Agnieszka Tomaszewska, Agnieszka Podbiol-Palenta, Malgorzata I. Srebniak
Publikováno v:
Cytogenetic and Genome Research, 139(1), 9-16. Karger
Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4f2662103f15571de2136c42b2a62ec
https://pubmed.ncbi.nlm.nih.gov/22965227
https://pubmed.ncbi.nlm.nih.gov/22965227
Autor:
Małgorzata, Srebniak, Lucyna, Popowska, Angelika, Wawrzkiewicz-Witkowska, Agnieszka, Tomaszewska, Wojciech, Kazmierczak
Publikováno v:
Journal of applied genetics. 46(3)
A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33ff298840309e18729fd481850ecc56
https://pubmed.ncbi.nlm.nih.gov/16110194
https://pubmed.ncbi.nlm.nih.gov/16110194