Results 81 to 90 of about 823,839 (283)

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability [PDF]

, 2014
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism1.
Baralle, Diana, Tatton-Brown, Katrina, Silvana del Vecchio Duarte, Katrina Tatton-Brown, Sheila Seal, Jenny Harmer, Dabir, Tabib, Diana Baralle, Seal, Sheila, Ramsay, Emma, Robert van Montfort, Goudie, David, Lise Aksglaede, Van Maldergem, Lionel, Selicorni, Angelo, Yachelevich, Naomi, Ajith Kumar, Pilz, Daniela T, Temple, I. Karen, Blanca Gener, Eleanor O'Brien, Zachariou, Anna, Aksglaede, Lise, Angelo Selicorni, Anna Zachariou, David Goudie, Temple, Karen I., Lionel Van Maldergem, Nazneen Rahman, Elise Ruark, del Vecchio Duarte, Silvana, Kumar, Ajith, Harmer, Jenny, I Karen Temple, Gener, Blanca, van Montfort, Robert, Sandra Hanks, Pilz, Daniela T., Hanks, Sandra, Temple, I Karen, Tessa Homfray, Tabib Dabir, O'Brien, Eleanor, Emma Ramsay, Ruark, Elise, Homfray, Tessa, Daniela T Pilz, Rahman, Nazneen, Naomi Yachelevich   +48 more
core   +1 more source

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Genome Medicine, 2019
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test ...
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen   +51 more
doaj   +1 more source

The role of exome sequencing in childhood interstitial or diffuse lung disease

Orphanet Journal of Rare Diseases, 2022
Background Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%.
Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe   +19 more
doaj   +1 more source

Exome

, 2015
The advent of next generation sequencing (NGS) technologies have revolutionised the way biologists produce, analyse and interpret data. Although NGS platforms provide a cost-effective way to discover genome-wide variants from a single experiment ...
Binay Panda (768771)
core   +1 more source

Exome sequencing: what clinicians need to know [PDF]

, 2014
This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License.The recent development of high throughput methods of deoxyribonucleic acid (DNA) sequencing has made it ...
Sastre, Leandro, Leandro Sastre
core   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study

BMC Pediatrics
Background Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations.
Ruiping Zhang, Xiaoyu Cui, Yan Zhang, Huiqing Ma, Jing Gao, Ying Zhang, Jianbo Shu, Chunquan Cai, Yang Liu   +8 more
doaj   +1 more source

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

, 2013
OBJECTIVE: Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1.
GIRELLI, Domenico, Rader DJ, Altshuler D, Erdmann J, Reilly MP, Lung, Orho-Melander M, Melander O, MARTINELLI, Nicola, Fouchier SW, Schunkert H, Barnes TA, Duga S, Defesche JC, Gabriel S, Moscoso AM, Peloso GM, Ardissino D, Schunkert H, Orho Melander M, McPherson R, Nederveen AJ, Nikpay M, National Heart, Girelli D, Goel A, Auer PL, Kathiresan S, Blood Institute GO Exome Sequencing Project, Gigante B, Kastelein JJ, Sivapalaratnam S, Watkins H, and Blood Institute GO Exome Sequencing Project, Stitziel NO, Samani NJ, Charnas L, Hovingh GK, Farrall M, Kooperberg C, Martinelli N, Lange LA, Sjouke B, de Faire U, Jackson RD   +44 more
core   +1 more source