Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Autor: Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, 70173 Stuttgart, Germany., Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Université Paris Cité, Imagine Institute, 75015 Paris, France., Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France., Boddaert N; Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Necker Enfants Malades Hospital, 75015 Paris, France., Hertecant J; Division of Genetics and Metabolics, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates., Kannouche PL; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France., Pouvelle C; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France., Htun S; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Slavotinek AM; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Diego-Alvarez D; Centogene GmbH, 18055 Rostock, Germany., Kampe K; Centogene GmbH, 18055 Rostock, Germany., Fleischer N; FDNA Inc., Boston, MA 02111, USA., Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Department of Molecular Genetics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A1, Canada., Kopajtich R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Suleiman J; Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Genetics and Metabolic Department, KidsHeart Medical Center, Abu Dhabi, United Arab Emirates.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2022 Sep 10; Vol. 31 (18), pp. 3083-3094.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Autor: Bertoli-Avella AM; CENTOGENE AG, Rostock, Germany., Beetz C; CENTOGENE AG, Rostock, Germany., Ameziane N; CENTOGENE AG, Rostock, Germany., Rocha ME; CENTOGENE AG, Rostock, Germany., Guatibonza P; CENTOGENE AG, Rostock, Germany., Pereira C; CENTOGENE AG, Rostock, Germany., Calvo M; CENTOGENE AG, Rostock, Germany., Herrera-Ordonez N; CENTOGENE AG, Rostock, Germany., Segura-Castel M; CENTOGENE AG, Rostock, Germany., Diego-Alvarez D; CENTOGENE AG, Rostock, Germany., Zawada M; CENTOGENE AG, Rostock, Germany., Kandaswamy KK; CENTOGENE AG, Rostock, Germany., Werber M; CENTOGENE AG, Rostock, Germany., Paknia O; CENTOGENE AG, Rostock, Germany., Zielske S; CENTOGENE AG, Rostock, Germany., Ugrinovski D; CENTOGENE AG, Rostock, Germany., Warnack G; CENTOGENE AG, Rostock, Germany., Kampe K; CENTOGENE AG, Rostock, Germany., Iurașcu MI; CENTOGENE AG, Rostock, Germany., Cozma C; CENTOGENE AG, Rostock, Germany., Vogel F; CENTOGENE AG, Rostock, Germany., Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Hertecant J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Al-Shamsi AM; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Alswaid AF; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Eyaid W; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Al Mutairi F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Albalwi MA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Reardon W; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland., Alanay Y; Pediatric Genetics Division, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Rolfs A; CENTOGENE AG, Rostock, Germany.; University of Rostock, Rostock, Germany., Bauer P; CENTOGENE AG, Rostock, Germany. Peter.Bauer@centogene.com.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jan; Vol. 29 (1), pp. 141-153. Date of Electronic Publication: 2020 Aug 28.

Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology.

Autor: Liu, Wenbo¹ (AUTHOR), Wu, Yi² (AUTHOR), Ma, Rulan³ (AUTHOR), Zhu, Xinxi¹ (AUTHOR), Wang, Rui¹ (AUTHOR), He, Lin¹ (AUTHOR), Shu, Maoguo¹ (AUTHOR) shumaoguo@163.com

Publikováno v: Orphanet Journal of Rare Diseases. 5/27/2024, Vol. 19 Issue 1, p1-24. 24p.

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