Results 61 to 70 of about 2,882,377 (304)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

JAMA Neurology, 2016
Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.To identify genetic variants contributing to disease risk in familial PD.A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the
Farlow, Janice L., Robak, Laurie A., Hetrick, Kurt, Bowling, Kevin, Boerwinkle, Eric, Coban-Akdemir, Zeynep H., Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Porter, Paula, Pugh, Elizabeth, White, Janson, Doheny, Kimberly, Myers, Richard M., Shulman, Joshua M., Foroud, Tatiana   +25 more
openaire   +2 more sources

Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing. [PDF]

, 2020
Background Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints.
Zamani, Mina, Seifi, Tahereh, Mazaheri, Neda, Sedighzadeh, Sahar, Galehdari, Hamid, Negahdari, Samira, Saberi, Alihossein, Shariati, Gholamreza, Sedaghat, Alireza, Hamid, Mohammad, Radpour, Ramin, Zeighami, Jawaher, Keikhaei, Bijan, Keikhaei B, Negahdari S, Hamid M, Sedaghat A, Seifi T, Radpour R, Galehdari H, Sedighzadeh S, Mazaheri N, Zamani M, Saberi A, Shariati G, Zeighami J   +25 more
core   +2 more sources

Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Acta Dermato-Venereologica, 2018
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman   +11 more
doaj   +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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Whole exome sequencing summary statistics.

, 2015
Whole exome sequencing summary statistics.
James McKay (89949), Stéphanie Villar (5663407), Luis Alonso Herrera (321623), Catherine Voegele (107245), David Cantú (3172572), Maude Ardin (737092), Jiri Zavadil (10270), Hector Aquiles Maldonado-Martínez (737089), Enrique Bargallo-Rocha (321624), Felipe Vaca-Paniagua (321619), Veronica Fragoso-Ontiveros (5663404), Florence Le Calvez-Kelm (107221), Nathalie Forey (107231), Maxime Vallée (737091), Federico Lasa-Gonsebatt (737090), Magali Olivier (15062), Carlos Pérez-Plasencia (35552), Geoffroy Durand (107242), Rosa María Alvarez-Gomez (321620), Alejandro Mohar (321625)   +19 more
core   +1 more source

PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

PLoS ONE, 2019
In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing.
Izumi Yamaguchi, Takashi Watanabe, Osamu Ohara, Yoshinori Hasegawa   +3 more
doaj   +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 of adenoid cystic carcinoma [PDF]

Journal of Clinical Investigation, 2013
Adenoid cystic carcinoma (ACC) is a rare malignancy that can occur in multiple organ sites and is primarily found in the salivary gland. While the identification of recurrent fusions of the MYB-NFIB genes have begun to shed light on the molecular underpinnings, little else is known about the molecular genetics of this frequently fatal cancer.
Stephens, P.J., Davies, H.R., Mitani, Y., Van Loo, P., Shlien, A., Tarpey, P.S., Papaemmanuil, E., Cheverton, A., Bignell, G.R., Butler, A.P., Gamble, J., Gamble, S., Hardy, C., Hinton, J., Jia, M., Jayakumar, A., Jones, D., Latimer, C., McLaren, S., McBride, D.J., Menzies, A., Mudie, L., Maddison, M., Raine, K., Nik-Zainal, S., O'Meara, S., Teague, J.W., Varela, I., Wedge, D.C.; id_orcid 0000-0002-7572-3196, Whitmore, I., Lippman, S.M., McDermott, U., Stratton, M.R., Campbell, P.J., El-Naggar, A.K., Futreal, P.A.   +35 more
openaire   +2 more sources