A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány

Autor: Henriett Butz, Gy Fekete, Attila Tar, Ágota Muzsnai, Attila Patócs, Zsuzsanna Szanto, Gábor Nyírő, Andrea Luczay, Rita Bertalan, Ágnes Sallai, Éva Hosszú, Violetta Csákváry, Enikő Felszeghy, Zita Halász, Imre Zoltan Kun, Dóra Török, Anna David

Publikováno v: Orvosi Hetilap. 158:1351-1356

Abstract: Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2–15% of patients with idiopathic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::de2355c2ef87c05d412daf7995cac4b5
https://doi.org/10.1556/650.2017.30829

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Autor: Caroline Eozenou, David Rodriguez-Buritica, Zita Halász, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, Anne Jorgensen, Sophie Lambert, Rajpert-De Meyts E, János Sólyom, Anu Bashamboo, Ken McElreavey, Paye-Jaouen A, Rita Bertalan, Attila Tar, Capucine Hyon, John C. Achermann, Peter Nagy, Laetitia Martinerie

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩

International audience; Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e91d6a53f3d8867c6d02692f0689a27
https://hal-pasteur.archives-ouvertes.fr/pasteur-02872425

[Actual questions about the prevention of venous thromboembolism in cancer patients receiving chemotherapy]

Autor: Hajna, Losonczy, Ágnes, Nagy, Attila, Tar

Publikováno v: Orvosi hetilap. 157(6)

Cancer patients have a 2-7 fold increased risk of venous thromboembolism compared with the general population and, since 1990, this is associated with significant morbidity and mortality. This review summarizes the current knowledge on venous thrombo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6a75545d126867d83ea58204d9102469
https://pubmed.ncbi.nlm.nih.gov/27120721

Novel sequence variation ofAIREand detection of interferon-ω antibodies in early infancy

Autor: Anette Bøe Wolff, Margit Zeher, Beáta Tóth, László Maródi, Attila Tar, Zita Halász, Melinda Erdos, István Ilyés, Gyula Szegedi, Péter Szüts, Eystein S. Husebye

Publikováno v: Clinical Endocrinology. 72:641-647

Objective Autoimmune polyendocrine syndrome type I (APS I) is a rare primary immunodeficiency disorder characterized by chronic mucocutaneous candidiasis, multi-organ autoimmunity and ectodermal dysplasia. Autoantibodies to parathyroid and adrenal gl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf902087b2692a402c2191a0292eb82
https://doi.org/10.1111/j.1365-2265.2009.03740.x

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

Autor: Célia Ravel, Attila Tar, Anu Bashamboo, Giovanna Vinci, Hassan Rouba, Frenny Sheth, Ken McElreavey, Raja Brauner, Jayesh Sheth

Publikováno v: Fertility and Sterility. 92:1347-1350

We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57b56b7ef30bacaa83be2eb1b305c502
https://doi.org/10.1016/j.fertnstert.2009.04.009