Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Ewelina M. Olech"'
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Akademický článek
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach
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
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2
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia
Autor: Ewa Hordyjewska-Kowalczyk, Aleksander Jamsheer, Przemko Tylzanowski, Anna Sowińska-Seidler, Renata Glazar, Magdalena Socha, Anna Kruczek, Ewelina M. Olech, Anna Latos-Bielenska
Publikováno v: Clinical Genetics. 96:429-438
RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56df18d4e13ba5f113587a0850978e01
https://doi.org/10.1111/cge.13610
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5
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach
Autor: Aleksander Jamsheer, Tomasz Zemojtel, Ewelina M. Olech, Stefan Mundlos, Marek Karczewski, Peter N. Robinson, Anna Sowińska-Seidler
Publikováno v: Polish Journal of Pathology, Vol 67, Iss 1, Pp 78-83 (2016)
Europe PubMed Central
Polish Journal of Pathology
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::78fe4bcfe5d93e6bfd1fd0702bdf3eb7
https://www.termedia.pl/Identification-of-a-molecular-defect-in-a-stillborn-fetus-with-perinatal-lethal-hypophosphatasia-using-a-disease-associated-genome-sequencing-approach,55,27425,1,1.html
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6
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
Autor: Ewelina M. Olech, Aleksander Jamsheer, Dawid Larysz, Anna Sowińska-Seidler, Magdalena Socha
Publikováno v: Journal of Applied Genetics
Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f589ecdf4ef7df199d6bb7ea3fa79e1
https://pubmed.ncbi.nlm.nih.gov/30145696
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7
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
Autor: Anna Latos-Bielenska, Aleksander Jamsheer, Monika Piwecka, Anna Sowińska-Seidler, Magdalena Socha, Ewelina M. Olech
Publikováno v: Journal of Applied Genetics
Loss-of-function mutations of the KAL1 gene are a known cause of Kallmann syndrome, a disorder characterized by the coexistence of hypogonadotropic hypogonadism and anosmia/hiposmia. On the other hand, neither complete nor partial duplications of KAL
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5399b60bbed56ca3525ab8d40890763c
https://doi.org/10.1007/s13353-014-0252-7
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8
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
Autor: Aleksander Jamsheer, Kazimierz Kozlowski, Monika Obara-Moszynska, Marek Niedziela, Anna Sowińska-Seidler, Tomasz Zemojtel, Marek Karczewski, Anna Latos-Bielenska, Ewelina M. Olech
Publikováno v: Journal of human genetics. 61(7)
Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism. The con
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d6b8e8dad504c6837bd0ccfc0997b48
https://pubmed.ncbi.nlm.nih.gov/27030147
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9
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
Autor: Ewelina M. Olech, Magdalena Socha, Kazimierz Kozlowski, Aleksander Jamsheer, Anna Sowińska-Seidler, Anna Latos-Bielenska, Antoni Pyrkosz, Tomasz Trzeciak, Anna Materna-Kiryluk
Publikováno v: Journal of human genetics. 61(5)
Brachydactyly refers to shortening of digits due to hypoplasia or aplasia of bones forming the hands and/or feet. Isolated brachydactyly type E (BDE), which is characterized by shortened metacarpals and/or metatarsals, results in a small proportion o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1657d7c35eb70e68f3634320deef71cf
https://pubmed.ncbi.nlm.nih.gov/26763883
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