Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Esra Yıldız Bölükbaşı"'
Autor:
Przemyslaw Szafranski, Tadeusz Majewski, Esra Yıldız Bölükbaşı, Tomasz Gambin, Justyna A. Karolak, Nahir Cortes-Santiago, Markus Bruckner, Gabriele Amann, Denisa Weis, Paweł Stankiewicz
Publikováno v:
Genes and Diseases, Vol 9, Iss 6, Pp 1423-1426 (2022)
Externí odkaz:
https://doaj.org/article/5f5a339f752044c5a00479c49bb9f116
Autor:
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł Stankiewicz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV‐causative CNV deletion inherited
Externí odkaz:
https://doaj.org/article/0451161a9ae846f480b268911a95f375
Autor:
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Omer Murik, David A. Zeevi, Gheona Altarescu, Paweł Stankiewicz
Publikováno v:
American Journal of Medical Genetics Part A. 188:1420-1425
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61e2d24c90dd824a3aa87d99cda544b5
https://doi.org/10.1002/ajmg.a.62656
https://doi.org/10.1002/ajmg.a.62656
Autor:
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Admire Matsika, Sam McManus, Hamish S. Scott, Peer Arts, Thuong Ha, Christopher P. Barnett, Jonathan Rodgers, Paweł Stankiewicz
Publikováno v:
European journal of human genetics : EJHG. 30(10)
Heterozygous single nucleotide variants (SNVs) or copy-number variant deletions involving FOXF1 or its distant lung-specific enhancer on chromosome 16q24.1 have been identified in 80-90% of patients with Alveolar capillary dysplasia with misalignment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8639a5107a358648e8e605d09dbc81
https://pubmed.ncbi.nlm.nih.gov/35902696
https://pubmed.ncbi.nlm.nih.gov/35902696
Autor:
Esra, Yıldız Bölükbaşı, Justyna A, Karolak, Przemyslaw, Szafranski, Tomasz, Gambin, Omer, Murik, David A, Zeevi, Gheona, Altarescu, Paweł, Stankiewicz
Publikováno v:
Am J Med Genet A
Variants involving TBX4 are associated with a wide variety of disorders, including pulmonary arterial hypertension, ischiocoxopodopatellar syndrome (ICPPS)/small patella syndrome (SPS), lethal lung developmental disorders (LLDDs) in neonates, heart d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ee73d1831f17d579cc94da9fef9ca6dc
https://pubmed.ncbi.nlm.nih.gov/35075769
https://pubmed.ncbi.nlm.nih.gov/35075769
Autor:
Danilo Bilches Medinas, Sajid Malik, Esra Yıldız‐Bölükbaşı, Janina Borgonovo, Mirva J Saaranen, Hery Urra, Eduardo Pulgar, Muhammad Afzal, Darwin Contreras, Madison T Wright, Felipe Bodaleo, Gabriel Quiroz, Pablo Rozas, Sara Mumtaz, Rodrigo Díaz, Carlos Rozas, Felipe Cabral‐Miranda, Ricardo Piña, Vicente Valenzuela, Ozgun Uyan, Christopher Reardon, Ute Woehlbier, Robert H Brown, Miguel Sena‐Esteves, Christian Gonzalez‐Billault, Bernardo Morales, Lars Plate, Lloyd W Ruddock, Miguel L Concha, Claudio Hetz, Aslıhan Tolun
Publikováno v:
EMBO J
Recessive gene mutations underlie many developmental disorders and often lead to disabling neurological problems. Here, we report identification of a homozygous c.170G>A (p.Cys57Tyr or C57Y) mutation in the gene coding for protein disulfide isomerase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6613e8538ac476726f6e672a582c42a8
https://europepmc.org/articles/PMC8762563/
https://europepmc.org/articles/PMC8762563/
Autor:
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Gail H. Deutsch, Paweł Stankiewicz
Publikováno v:
Eur J Med Genet
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder in neonates due to heterozygous loss-of-function of the mesenchymal transcription factor gene, FOXF1. Interestingly, unlike ACDMPV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a285c2be3565e3ec21079db580673b1
https://doi.org/10.1016/j.ejmg.2022.104519
https://doi.org/10.1016/j.ejmg.2022.104519
Publikováno v:
Journal of human genetics. 66(2)
A null mutation in a patient can facilitate phenotype assignment and uncovers the function of that specific gene. We present five sibs of a consanguineous Pakistani family afflicted with a new syndrome with an unusual combination of skeletal anomalie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b16a32fc77e57b2e151ffae06d1cc22b
https://pubmed.ncbi.nlm.nih.gov/32778762
https://pubmed.ncbi.nlm.nih.gov/32778762
Autor:
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
Publikováno v:
Journal of Medical Genetics. 55:189-197
BackgroundBardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.MethodsSNP genotype data w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4389fe5d7afefd13fbc04336ac2d869
https://doi.org/10.1136/jmedgenet-2017-104758
https://doi.org/10.1136/jmedgenet-2017-104758
Autor:
Sajid Malik, Gökhan Nalbant, Sara Mumtaz, Zele Huma, Aslıhan Tolun, Nafees Ahmad, Esra Yıldız Bölükbaşı
Publikováno v:
European journal of medical genetics. 63(9)
Tooth agenesis (TA) is the developmental absence of one or more permanent teeth. We report on 10 members of a Pakistani family afflicted with TA with variable associated features inherited in autosomal dominant fashion with full penetrance. The malfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019eedd6d8c2397039e1c3ee1f034d93
https://pubmed.ncbi.nlm.nih.gov/32325225
https://pubmed.ncbi.nlm.nih.gov/32325225