Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Anna Sowinska-Seidler"'
Autor:
Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela
Publikováno v:
International Journal of Endocrinology, Vol 2016 (2016)
X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laborato
Externí odkaz:
https://doaj.org/article/5396c66c2ffc447b80f4aeb6bbc066ce
Autor:
Jacob W. P. Potuijt, Anna Sowinska-Seidler, Ewelina Bukowska-Olech, Picard Nguyen, Aleksander Jankowski, Frank Magielsen, Karolina Matuszewska, Christianne A. van Nieuwenhoven, Robert-Jan H. Galjaard, Annelies de Klein, Aleksander Jamsheer
Publikováno v:
Molecular Genetics and Genomics, 297(5), 1343-1352. Springer-Verlag
Herein, we report on a large Polish family presenting with a classical triphalangeal thumb–polysyndactyly syndrome (TPT-PS). This rare congenital limb anomaly is generally caused by microduplications encompassing the Sonic Hedgehog (SHH) limb enhan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d61506290ce067fa8594addc7f5d332
https://pure.eur.nl/en/publications/71cd386f-25ea-4e52-8753-612255f1dc87
https://pure.eur.nl/en/publications/71cd386f-25ea-4e52-8753-612255f1dc87
Autor:
Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss, crani
Externí odkaz:
https://doaj.org/article/c356fd9be67a45c69532cb8d09bcf961
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherits with variable ex
Externí odkaz:
https://doaj.org/article/d32882f34a244a9991a8a179bf43d5f1
Autor:
Naeimeh, Tayebi, Aleksander, Jamsheer, Ricarda, Flöttmann, Anna, Sowinska-Seidler, Sandra C, Doelken, Barbara, Oehl-Jaschkowitz, Wiebke, Hülsemann, Rolf, Habenicht, Eva, Klopocki, Stefan, Mundlos, Malte, Spielmann
Publikováno v:
Orphanet Journal of Rare Diseases
Background A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore terme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::781f41cdda870c37e774c6c685e6d33b
https://pubmed.ncbi.nlm.nih.gov/25231166
https://pubmed.ncbi.nlm.nih.gov/25231166
Autor:
Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding protein kinase
Externí odkaz:
https://doaj.org/article/5ce6f21eef864344a103eb137674f7c1
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d
Autor:
Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Dawid Larysz, Paweł Gawliński, Grzegorz Koczyk, Delfina Popiel, Lidia Gurba-Bryśkiewicz, Anna Materna-Kiryluk, Zuzanna Adamek, Aleksandra Szczepankiewicz, Paweł Dominiak, Filip Glista, Karolina Matuszewska, Aleksander Jamsheer
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Background: Craniosynostosis (CS) represents a highly heterogeneous genetic condition whose genetic background has not been yet revealed. The abnormality occurs either in isolated form or syndromic, as an element of hundreds of different inborn syndr
Externí odkaz:
https://doaj.org/article/fbd552ed03f34a65b30b004ba44b40f1
Autor:
Anna Sowińska-Seidler, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundPyle disease is a rare autosomal recessive bone dysplasia characterized by the broadening of metaphyses with generalized cortical thinning. Homozygous truncating mutations in secreted frizzled-related protein 4 (SFRP4) were, to date, the on
Externí odkaz:
https://doaj.org/article/1aeedab42593478e92952aab1340f73e
Autor:
Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer
Publikováno v:
Polish Journal of Pathology, Vol 67, Iss 1, Pp 78-83 (2016)
Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment. Here we report on a stillborn patient delivered at 22 weeks of gestati
Externí odkaz:
https://doaj.org/article/d5d4e06f41d844cb816a06745ead58a7