Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia

Autor: Aslıhan Kiraz, Ozlem Sezer, Adem Alemdar, Sezin Canbek, Nilgun Duman, Atıl Bisgin, Tulin Cora, Hatice Ilgın Ruhi, Mahmut Cerkez Ergoren, Bilgen Bilge Geçkinli, Sebnem Ozemri Sag, Hilmi Erdem Gözden, Ozlem Oz, Zuhal Mert Altıntaş, Sinem Yalcıntepe, Adem Keskin, Ayşegül Yabacı Tak, Şeyma Aktaş Paskal, Uğur Fahri Yürekli, Mercan Demirtas, Emine Unal Evren, Abdullah Hanta, Müşerref Başdemirci, Kaya Suer, Burhan Balta, Nadir Kocak, Halil Gürhan Karabulut, Havva Cobanogulları, Esra Arslan Ateş, Sevcan Tuğ Bozdoğan, Damla Eker, Sadiye Ekinci, Süleyman Nergiz, Timur Tuncalı, Serap Yagbasan, Ceren Alavanda, Nuket Yurur Kutlay, Hakan Evren, Murat Erdoğan, Sule Altıner, Tamer Sanlidag, Gizem Akıncı Gonen, Arzu Vicdan, Nazan Eras, Hatice Koçak Eker, Ozgür Balasar, Gulten Tuncel, Munis Dundar, Hakan Gurkan, Sehime Gulsun Temel

Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012a2db7faa6ca88f32d5fd353b005ee
https://hdl.handle.net/11424/287280

A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N

Autor: Miraç Yıldırım, Melih Timucin Dogan, Hatice Koçak Eker

Publikováno v: Turk Arch Pediatr

Mutations in protein O-mannosyltransferase 2 can cause a wide spectrum of clinical phenotypes from severe congenital muscular dystrophy such as Walker-Warburg syndrome to milder limb-girdle muscular dystrophy 2N. We aimed to describe the clinical and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8cb5c6c43842ef62f04a6428068a463
https://europepmc.org/articles/PMC8114593/

Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases

Autor: Sara Osimani, Andrew E. Fry, Koenraad Devriendt, Débora Romeo Bertola, Marjan M. Nezarati, Han G. Brunner, Grazia M.S. Mancini, Jorge L. Juncos, Pirayeh Eftekhari, Nataliya Di Donato, Marjolijn C.J. Jongmans, Laurence Faivre, Gilles Morin, Małgorzata J.M. Nowaczyk, Didier Lacombe, Zeichi-Seide Roseli, Conny M. A. van Ravenswaaij, Daniela Melis, Julien Masliah-Planchon, William B. Dobyns, Alexander Hoischen, Hatice Koçak Eker, Marlies Kempers, Andreas Rump, Vera Uliana, Victoria Mok Siu, Fabienne Giuliano, Nicole Philip, Beate Albrecht, Omar A Abdul-Raman, Alain Verloes, Mirjam Klaus, Angela E. Lin, Massimiliano Rossi, Albert David, Bregje W.M. van Bon, Jeanette C. Ramer, Ludivine Templin, Séverine Drunat, Yves Sznajer, Vincent Procaccio, Jean-Baptiste Rivière, Mary Ella M Pierpont, Francesca Faravelli, Judith Allanson, Leina Guion Almeida, Daniela T. Pilz, Cristina Rusu, Nicolas Chassaing, Charles Marques Lourenço, Bruce H. Wainer, Valérie Drouin-Garraud

Publikováno v: European Journal of Human Genetics, 23(3), 292. Nature Publishing Group
Eur J Hum Genet
Eur J Hum Genet, 2014, 23, pp.292-301. ⟨10.1038/ejhg.2014.95⟩
European Journal of Human Genetics, 23(3), 292-301. Nature Publishing Group
European Journal of Human Genetics, 23, 3, pp. 292-301
European Journal of Human Genetics, 23, 292-301
European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014)
Paediatrics Publications

International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d59a289fd417971e5c5cbc83f908234
https://dspace.library.uu.nl/handle/1874/335851

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

Autor: Hatice Koçak Eker, Fatema Al-Salmi, Süleyman Ersin Ünlü, Andrew H. Crosby

Publikováno v: European journal of medical genetics. 57(6)

Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee059d66df96896ebfd1913ad5cb9bfb
https://pubmed.ncbi.nlm.nih.gov/24704789

Variable expressivity of renal involvement in a further family with Townes–Brocks syndrome

Autor: Hatice Koçak Eker, Özgür Balasar

Publikováno v: Clinical Dysmorphology. 24:24-25

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7ba815398c4ca7c3b135ab43d2bb66
https://doi.org/10.1097/mcd.0000000000000054