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Artículos, Encontrados 2 registros
Artículos Encontrados 2 registros  
1.
20 p, 2.2 MB Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes / Scala, Marcello (University of Genoa) ; Nishikawa, Masashi (Aichi Developmental Disability Center (Japó)) ; Ito, Hidenori (Aichi Developmental Disability Center (Japó)) ; Tabata, Hidenori (Aichi Developmental Disability Center (Japó)) ; Khan, Tayyaba (The Hospital for Sick Children (Canadà)) ; Accogli, Andrea (University of Genoa) ; Davids, Laura (Emory Healthcare (Estats Units d'Amèrica)) ; Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Chiurazzi, Pietro (Università Cattolica Sacro Cuore) ; Cericola, Gabriella (Helios-Klinikum Hildesheim (Alemanya)) ; Schulte, Björn (Praxis für Humangenetik (Almenya)) ; Monaghan, Kristin G (GeneDx, Gaithersburg (Estats Units d'Amèrica)) ; Begtrup, Amber (GeneDx, Gaithersburg (Estats Units d'Amèrica)) ; Torella, Annalaura (University of Campania Luigi Vanvitelli) ; Pinelli, Michele (Telethon Institute of Genetics and Medicine (Itàlia)) ; Denommé-Pichon, Anne Sophie (Université de Bourgogne Franche-Comté) ; Vitobello, Antonio (Université de Bourgogne Franche-Comté) ; Racine, Caroline (CHU de Dijon Bourgogne) ; Mancardi, Maria Margherita (IRCCS Istituto Giannina Gaslini) ; Kiss, Courtney (Queen's University (Canadà)) ; Guerin, Andrea (Queen's University (Canadà)) ; Wu, Wendy (Queen's University (Canadà)) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Mak, Bryan C (University of California-Los Angeles) ; Martinez-Agosto, Julian A (University of California-Los Angeles) ; Gorin, Michael B (University of California-Los Angeles) ; Duz, Bugrahan (Haseki Training and Research Hospital (Turquia)) ; Bayram, Yavuz (University of Pennsylvania) ; Carvalho, Claudia M B (Baylor College of Medicine (Estats Units d'Amèrica)) ; Vengoechea, Jaime E (Emory Healthcare (Estats Units d'Amèrica)) ; Chitayat, David (University of Toronto) ; Tan, Tiong Yang (University of Melbourne) ; Callewaert, Bert (Universitair Ziekenhuis Gent) ; Kruse, Bernd (Helios-Klinikum Hildesheim) ; Bird, Lynne M (Rady Children's Hospital San Diego) ; Faivre, Laurence (Université de Bourgogne Franche-Comté) ; Zollino, Marcella (Sezione di Medicina Genomica, Università Cattolica Sacro Cuore) ; Biskup, Saskia (Praxis für Humangenetik (Alemanya)) ; Striano, Pasquale (University of Genoa) ; Nigro, Vincenzo (University of Campania Luigi Vanvitelli) ; Severino, Mariasavina (IRCCS Istituto Giannina Gaslini) ; Capra, Valeria (IRCCS Istituto Giannina Gaslini) ; Costain, Gregory (The Hospital for Sick Children (Canadà)) ; Nagata, Koh ichi (University of Campania Luigi Vanvitelli) ; Universitat Autònoma de Barcelona
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. [...]
2022 - 10.1093/brain/awac106
Brain, Vol. 145 (july 2022) , p. 3308-3327  
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2.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Barakat, Bushra A. Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; GOSgene UCL Great Ormond Street Institute of Child Health
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  
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1 Begtrup, A.
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