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CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp.
Afiliação
  • Windpassinger C; Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
  • Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire Besançon, 25030 Besançon, France; Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, 25030 Besançon, France.
  • Bonnard C; Institute of Medical Biology, Agency for Science, Technology, and Research, Singapore 138648, Republic of Singapore.
  • Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh 11481, Saudi Arabia.
  • Lim S; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • Bisteau X; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • Blouin S; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria.
  • Ali NB; Institute of Medical Biology, Agency for Science, Technology, and Research, Singapore 138648, Republic of Singapore.
  • Ng AYJ; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • Lu H; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • Tohari S; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • Talib SZA; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • van Hul N; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore.
  • Caldez MJ; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; National University of Singapore, Department of Biochemistry, Singapore 117597, Republic of Singapore.
  • Van Maldergem L; Centre de Génétique Humaine, Centre Hospitalier Universitaire Besançon, 25030 Besançon, France; Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, 25030 Besançon, France.
  • Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37099 Göttingen, Germany.
  • Kayserili H; Department of Medical Genetics, Koç University, School of Medicine, 34010 Topkapi, Istanbul, Turkey.
  • Youssef SA; Department of Pathobiology, Faculty of Veterinary Medicine, Utrecht University, 3584 CL Utrecht, the Netherlands.
  • Coppola V; National Cancer Institute, Mouse Cancer Genetics Program, NCI Frederick, Building 560, 1050 Boyles Street, Frederick, MD 21702-1201, USA.
  • de Bruin A; Department of Pathobiology, Faculty of Veterinary Medicine, Utrecht University, 3584 CL Utrecht, the Netherlands.
  • Tessarollo L; National Cancer Institute, Mouse Cancer Genetics Program, NCI Frederick, Building 560, 1050 Boyles Street, Frederick, MD 21702-1201, USA.
  • Choi H; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Saw Swee Hock School of Public Health, National University Singapore, Singapore National University Health System, Singapore 117549, Republic of Singapor
  • Rupp V; Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
  • Roetzer K; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria; Center for Medical Genetics, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria; Sigmun
  • Roschger P; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria.
  • Klaushofer K; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, Weyertal 115b, 50931 Cologne, Germany.
  • Roy S; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore 119228, Republic of Singapore; Department of Biological Scienc
  • Venkatesh B; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore 119228, Republic of Singapore.
  • Ganger R; Orthopedic Hospital of Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
  • Grill F; Orthopedic Hospital of Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
  • Ben Chehida F; Center of Radiology, Department of Imaging Studies-Ibn Zohr Institute, Tunis, City Khadra 1003, Tunisia.
  • Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37099 Göttingen, Germany.
  • Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey.
  • Al Kaissi A; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna, Austria; Orthopedic Hospital of Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
  • Reversade B; Institute of Medical Biology, Agency for Science, Technology, and Research, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Medical Genetics, Koç
  • Kaldis P; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; National University of Singapore, Department of Biochemistry, Singapore 117597, Republic of Singapore. Electronic address: kaldis@imcb.a-star.edu.sg.
Am J Hum Genet ; 101(3): 391-403, 2017 Sep 07.
Article em En | MEDLINE | ID: mdl-28886341
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article