Zobrazeno 1 - 10 of 720 pro vyhledávání: '"Toydemir, P."'
1
Akademický článek
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Autor: Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz: https://doaj.org/article/0358fc56f6054b188a138c71c996e968
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2
Akademický článek
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5
Akademický článek
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
Autor: Michael J. Cormier, Brent S. Pedersen, Pinar Bayrak-Toydemir, Aaron R. Quinlan
Publikováno v: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-32 (2022)
Abstract Background Despite numerous molecular and computational advances, roughly half of patients with a rare disease remain undiagnosed after exome or genome sequencing. A particularly challenging barrier to diagnosis is identifying variants that
Externí odkaz: https://doaj.org/article/16695b18f8474f139af9cbf5a7074e01
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6
Akademický článek
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
Autor: Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza
Publikováno v: Frontiers in Genetics, Vol 14 (2023)
Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed
Externí odkaz: https://doaj.org/article/a83487949347444bb6468d2fc8217d59
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Plný text Recenzováno Digitální knihovna AV ČR
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