Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Marlena Młynek"'
Autor:
Małgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bozena Bruhn‐Olszewska, Marco Cavalli, Krzysztof Szczałuba, Marlena Młynek, Marcin M. Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P. Dumanski, Rafał Płoski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of
Externí odkaz:
https://doaj.org/article/853c2803d00245c78a246f0a79689b02
Autor:
Klaudia Rakusiewicz, Wojciech Hautz, Marlena Młynek, Joanna Jędrzejczak-Młodziejewska, Agnieszka Czeszyk, Krystyna Kanigowska, Małgorzata Danowska, Marta Wyszyńska, Anna Rogowska, Dorota Wicher
Publikováno v:
Open Medicine
Open Medicine, Vol 16, Iss 1, Pp 156-160 (2021)
Open Medicine, Vol 16, Iss 1, Pp 156-160 (2021)
Background Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and
Autor:
Anna Tylki-Szymańska, Marta Smyk, Aleksandra Jezela-Stanek, Marlena Młynek, Agnieszka Różdżyńska-Świątkowska, Paulina Pokora, Kamila Ziemkiewicz
Publikováno v:
Clinical Dysmorphology. 30:76-82
Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduron
Autor:
Krystyna H. Chrzanowska, Natalia Filipowicz, Dariusz Śladowski, Marcin M Machnicki, Piotr Stawiński, Hanna Davies, Paweł Olszewski, Krzysztof Szczałuba, Bozena Bruhn-Olszewska, Darek Kedra, Paweł Krajewski, Marco Cavalli, Jan P. Dumanski, Grażyna Kostrzewa, Rafał Płoski, Małgorzata Rydzanicz, Marlena Młynek
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of a pair of
Autor:
Małgorzata Rydzanicz, Marlena Młynek, Agnieszka Pollak, Dorota Wicher, Agnieszka Stembalska, Anna Gambin, Katarzyna Wojciechowska, Piotr Stawiński, Krystyna H. Chrzanowska, Monika Lejman, Barbara Poszewiecka, Rafał Płoski, Katarzyna Pachota, Karolina Matuszewska, Marzena Kucharczyk, Małgorzata Krajewska-Walasek, Anna Materna-Kiryluk, Victor Murcia Pienkowski, Agata Cieślikowska, Joanna Kosińska
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1245, p 1245 (2020)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1245
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1245
De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases, affect the human phenotype. Delineation of the exact structure of BCAs may provide a preci
Autor:
Agata Skórka, Victor Murcia Pienkowski, Agnieszka Koppolu, Anna Walczak, Jennifer Castaneda, Robert Śmigiel, Anna Gambin, Małgorzata Rydzanicz, Anna Biernacka, Marlena Młynek, Ewa Obersztyn, Joanna Kosińska, Maciej Sykulski, Paweł Krajewski, Marzena Kucharczyk, Małgorzata Krajewska-Walasek, Barbara Poszewiecka, Elżbieta Jurkiewicz, Rafał Płoski, Renata Posmyk, Krzysztof Szczałuba, Krystyna H. Chrzanowska
Publikováno v:
Journal of Medical Genetics. 56:104-112
BackgroundMapping the breakpoints in de novo balanced chromosomal translocations (BCT) in symptomatic individuals provides a unique opportunity to identify in an unbiased way the likely causative genetic defect and thus find novel human disease candi
Autor:
Małgorzata Rydzanicz, Marlena Młynek, Rafał Płoski, Dorota Wicher, Dorota Jurkiewicz, Małgorzata Krajewska-Walasek, Aleksandra Jezela-Stanek, Katarzyna Falana, Agata Cieslikowska, Monika Kugaudo, Elżbieta Ciara, Marzena Kucharczyk
Publikováno v:
Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)
Background and Aim. Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly
Autor:
Victor, Murcia Pienkowski, Marzena, Kucharczyk, Marlena, Młynek, Krzysztof, Szczałuba, Małgorzata, Rydzanicz, Barbara, Poszewiecka, Agata, Skórka, Maciej, Sykulski, Anna, Biernacka, Agnieszka Anna, Koppolu, Renata, Posmyk, Anna, Walczak, Joanna, Kosińska, Paweł, Krajewski, Jennifer, Castaneda, Ewa, Obersztyn, Elżbieta, Jurkiewicz, Robert, Śmigiel, Anna, Gambin, Krystyna, Chrzanowska, Małgorzata, Krajewska-Walasek, Rafał, Płoski
Publikováno v:
Journal of medical genetics. 56(2)
Mapping the breakpoints in de novo balanced chromosomal translocations (BCT) in symptomatic individuals provides a unique opportunity to identify in an unbiased way the likely causative genetic defect and thus find novel human disease candidate genes
Autor:
Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek
Publikováno v:
Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)
Background and Aim. Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly
Externí odkaz:
https://doaj.org/article/00a51cc40d5848598367f934403563da