Results 221 to 230 of about 122,453 (313)

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis. [PDF]

Nat Genet
Hop PJ, Kooyman M, Kenna BJ, Zwamborn RAJ, van Eijk KR, Wang Y, van Dijk CH, Bekema E, van Rheenen W, Beele P, van Vugt JJFA, Project MinE ALS sequencing Consortium, NYGC ALS Consortium, FALS sequencing Consortium, GTAC Consortium, Khleifat AA, Iacoangeli A, Cooper-Knock J, Smith BN, Topp S, van der Kooi AJ, Fominykh V, Drory V, Lerner Y, Shovman Y, Rowe DB, Williams KL, McLaughlin RL, Hurt J, Huang Y, Chen CY, Tsai E, Runz H, Aronica E, Groen EJN, van Es MA, Pasterkamp RJ, Farhan SMK, Garton FC, McRae AF, McCombe PA, Henderson RD, Fan D, Šlachtová L, Høyer H, Nishimura AL, Cauchi RJ, Brylev L, Rogelj B, Koritnik B, Zidar J, Salas T, Mora Pardina JS, Gotkine M, Povedano M, Corcia P, Vourc'h P, Couratier P, Weber M, Kiernan MC, Pamphlett R, Blair IP, de Carvalho M, Başak NA, Ingre C, Andersen PM, Zinman L, Rogaeva E, MacKenzie IR, Dupre N, Rouleau GA, Traynor BJ, Ticozzi N, Chiò A, Silani V, Hardiman O, Phatnani H, Harms MB, Dalgard CL, Glass JD, Landers JE, Van Damme P, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A, van den Berg LH, Kenna KP, Veldink JH.   +88 more
europepmc   +1 more source

Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

, 2015
Rong Zhao, Yan Ruan, Xin Wang
openalex  

Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing [PDF]

David Fielding, Vanessa Lakis, Andrew J. Dalley, Haarika Chittoory, Felicity Newell, Lambros T. Koufariotis, Ann‐Marie Patch, Stephen H. Kazakoff, Farzad Bashirzadeh, Jung Hwa Son, Kimberley Ryan, Daniel Steinfort, Jonathan Williamson, Michael Bint, Carl Pahoff, Phan Nguyen, Scott Twaddell, David Arnold, Christopher Grainge, Andrew Pattison, David J. Fairbairn, Shailendra Gune, Jemma J. Christie, Oliver Holmes, Conrad Leonard, Scott Wood, John V. Pearson, Sunil R. Lakhani, Nicola Waddell, Peter T. Simpson, Kátia Nones   +30 more
openalex   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Diagnostic Yield in Childhood-Onset Hearing Loss: A Meta-Analysis and Systematic Review. [PDF]

Life (Basel)
Taiber S, Carlson RJ, Muhanna N, Abu Eta R.   +3 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Advancing the Diagnosis of Non-Hodgkin Lymphoma Through Next-Generation Sequencing in Developing Countries: An Evaluation of Progress-A Narrative Review. [PDF]

Health Sci Rep
Saeidnia M, Shokri M, Nourmohammadi H, Radmehr S, Babashahi M, Moradi M, Karimian M, Panji M, Motevaseli E.   +8 more
europepmc   +1 more source

Identifying the genetic etiology of spontaneous coronary artery dissection using exome and whole genome sequencing data

, 2020
Hannah Burr
openalex   +1 more source