Zobrazeno 1 - 10
of 20 104
pro vyhledávání: '"„clinical exome“"'
Autor:
M. Chetta, M. Tarsitano, M. Rivieccio, M. Oro, A.L. Cammarota, M. De Marco, L. Marzullo, A. Rosati, N. Bukvic
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 2615-2622 (2024)
Despite the inevitable shift in medical practice towards a deeper understanding of disease etiology and progression through multigenic analysis, the profound historical impact of Mendelian diseases cannot be overlooked. These diseases, such as cystic
Externí odkaz:
https://doaj.org/article/c83dae1913b140e2ae48f77c984344ea
Autor:
Shrinjana Dhar, Pritha Bhattacharjee
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Polycystic ovarian syndrome (PCOS) is one of the most common endocrinopathies among reproductive women worldwide, contributing greatly on the incidence of female infertility and gynecological cancers. It is a complex health condition combini
Externí odkaz:
https://doaj.org/article/645e6b939ecc47ffbd270aa0b1b2b603
Autor:
Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100387- (2025)
Summary: MGA (OMIM: 616061) encodes a dual-specificity transcription factor that regulates the expression of Max-network and T-box family target genes, important in embryogenesis. Previous studies have linked MGA to various phenotypes, including neur
Externí odkaz:
https://doaj.org/article/a3ad958ae5ee4a55936d83f8caf4555a
Autor:
Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Christine A. Giummo, Jessica Ogawa, Deanna Alexis Carere, Elizabeth A. Normand, Yaping Qian, Kirsty McWalter, Erin Torti
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100384- (2025)
Summary: Runt-related transcription factor 1 translocated to 1 (RUNX1T1; also known as eight-twenty-one [ETO]) encodes a transcription regulator for hematopoietic genes and is well known for its involvement in hematologic malignancies, particularly a
Externí odkaz:
https://doaj.org/article/c2f349dfe2e048f4801d494abc5fbe23
Autor:
Arts, Rob J.W. a, b, Bijker, Else M. c, d, Bruno, Mariolina a, b, Hobo, Willemijn e, f, Hoppenreijs, Esther g, de Jonge, Marien I. b, h, van Laarhoven, Arjan a, b, van der Molen, Renate h, Oud, Manon i, j, Schatorje, Ellen J.H. g, Smeets, Ruben f, Sprenkeler, Evelien G.G. h, Stol, Kim k, Verhagen, Lilly M. b, l, f, Zonneveld-Huijssoon, Evelien m, Vorsteveld, Emil E. n, o, 1, Van der Made, Caspar I. n, o, p, 1, Smeekens, Sanne P. n, Schuurs-Hoeijmakers, Janneke H. n, Astuti, Galuh n, o, Diepstra, Heleen n, Gilissen, Christian n, o, Hoenselaar, Evelien n, Janssen, Alice n, van Roozendaal, Kees q, Engelen, Jettie Sikkema-van n, Steyaert, Wouter n, o, Weiss, Marjan M. n, Yntema, Helger G. n, r, Mantere, Tuomo n, s, AlZahrani, Mofareh S. t, van Aerde, Koen u, Derfalvi, Beata v, Faqeih, Eissa Ali w, Henriet, Stefanie S.V. o, x, van Hoof, Elise y, Idressi, Eman t, Issekutz, Thomas B. z, Jongmans, Marjolijn C.J. aa, Keski-Filppula, Riikka ab, Krapels, Ingrid q, te Loo, Maroeska ac, Mulders-Manders, Catharina M. p, ad, ten Oever, Jaap o, ae, Potjewijd, Judith af, Sarhan, Nora Tarig w, Slot, Marjan C. ag, Terhal, Paulien A. ah, Thijs, Herman ai, Vandersteen, Anthony aj, ak, Vanhoutte, Els K. ah, van de Veerdonk, Frank p, ae, van Well, Gijs al, Netea, Mihai G. p, ae, am, Simons, Annet n, Hoischen, Alexander n, o, p, ae, ad, ⁎
Publikováno v:
In Clinical Immunology November 2024 268
Autor:
Menzel, Michael a, b, ⁎, Martis-Thiele, Mihaela c, Goldschmid, Hannah a, b, Ott, Alexander d, Romanovsky, Eva a, b, Siemanowski-Hrach, Janna e, Seillier, Lancelot f, g, h, Brüchle, Nadina Ortiz f, h, Maurer, Angela f, Lehmann, Kjong-Van g, h, i, j, Begemann, Matthias h, k, l, Elbracht, Miriam h, k, Meyer, Robert h, Dintner, Sebastian m, Claus, Rainer m, n, Meier-Kolthoff, Jan P. o, Blanc, Eric p, Möbs, Markus q, Joosten, Maria q, Benary, Manuela p, r, Basitta, Patrick s, Hölscher, Florian s, Tischler, Verena s, Groß, Thomas t, Kutz, Oliver u, v, w, x, y, z, Prause, Rebecca t, William, Doreen t, u, v, w, x, y, z, Horny, Kai aa, ab, Goering, Wolfgang ac, Sivalingam, Sugirthan ad, Borkhardt, Arndt h, ae, bq, Blank, Cornelia ad, Junk, Stefanie V. h, ae, Yasin, Layal h, ae, Moskalev, Evgeny A. af, ag, ah, ai, Carta, Maria Giulia af, ag, ah, ai, Ferrazzi, Fulvia af, ag, ah, ai, aj, Tögel, Lars af, ag, ah, ai, Wolter, Steffen ak, al, am, Adam, Eugen ak, al, am, Matysiak, Uta ak, al, am, Rosenthal, Tessa an, Dönitz, Jürgen ao, Lehmann, Ulrich ap, Schmidt, Gunnar aq, Bartels, Stephan ap, Hofmann, Winfried aq, Hirsch, Steffen ar, Dikow, Nicola ar, Göbel, Kirsten as, Banan, Rouzbeh as, Hamelmann, Stefan as, Fink, Annette a, b, Ball, Markus a, at, Neumann, Olaf a, b, Rehker, Jan e, Kloth, Michael au, Murtagh, Justin au, Hartmann, Nils au, Jurmeister, Phillip av, aw, Mock, Andreas av, aw, Kumbrink, Jörg av, aw, Jung, Andreas av, aw, Mayr, Eva-Maria c, Jacob, Anne c, Trautmann, Marcel ax, ay, Kirmse, Santina ax, ay, Falkenberg, Kim ax, ay, Ruckert, Christian az, Hirsch, Daniela ba, Immel, Alexander ba, bb, Dietmaier, Wolfgang ba, Haack, Tobias d, Marienfeld, Ralf bc, bd, Fürstberger, Axel bc, bd, Niewöhner, Jakob bc, bd, Gerstenmaier, Uwe bc, bd, Eberhardt, Timo bd, be, Greif, Philipp A. aw, be, bf, Appenzeller, Silke bg, Maurus, Katja bh, Doll, Julia bh, Jelting, Yvonne bi, Jonigk, Danny f, h, bj, Märkl, Bruno m, Beule, Dieter p, Horst, David q, Wulf, Anna-Lena s, Aust, Daniela t, bk, Werner, Martin ak, al, am, bl, Reuter-Jessen, Kirsten an, Ströbel, Philipp an, Auber, Bernd aq, Sahm, Felix as, br, Merkelbach-Bruse, Sabine e, Siebolts, Udo e, Roth, Wilfried au, Lassmann, Silke bm, bn, Klauschen, Frederick aq, ar, Gaisa, Nadine T. f, h, ax, Weichert, Wilko c, 1, Evert, Matthias ba, Armeanu-Ebinger, Sorin d, Ossowski, Stephan d, Schroeder, Christopher d, Schaaf, Christian P. ar, Malek, Nisar b, bo, Schirmacher, Peter a, b, Kazdal, Daniel a, at, 2, Pfarr, Nicole c, 2, Budczies, Jan a, b, 2, Stenzinger, Albrecht a, b, at, bp, ⁎, 2
Publikováno v:
In European Journal of Cancer November 2024 211
Autor:
Chetta, M. a, ⁎, Tarsitano, M. a, Rivieccio, M. a, Oro, M. a, Cammarota, A.L. b, De Marco, M. b, Marzullo, L. b, Rosati, A. b, Bukvic, N. c
Publikováno v:
In Computational and Structural Biotechnology Journal December 2024 23:2615-2622
Autor:
Katia Margiotti, Marco Fabiani, Antonella Cima, Francesco Libotte, Alvaro Mesoraca, Claudio Giorlandino
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 4, Pp 3209-3217 (2024)
Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2–3% of live births and 20% of spontaneous miscarr
Externí odkaz:
https://doaj.org/article/3b12cc06c3e3433f88af0926c66469f2
Autor:
Katia Margiotti, Marco Fabiani, Antonella Cima, Antonella Viola, Francesca Monaco, Chiara Alì, Costanza Zangheri, Carmela Abramo, Claudio Coco, Alvaro Mesoraca, Claudio Giorlandino
Publikováno v:
Diagnostics, Vol 14, Iss 22, p 2601 (2024)
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap
Externí odkaz:
https://doaj.org/article/10c780a885c44b8daff8e688cd5979c9
Autor:
Hui Xiao, Huiyao Chen, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Yun Cao, Liyuan Hu, Xinran Dong, Wenhao Zhou, Lin Yang
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns in the newborn inten
Externí odkaz:
https://doaj.org/article/a13219e6102b4b708d625471812653ae