Results 111 to 120 of about 50,370 (253)

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.

PLoS Genetics
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic determinants of ...
Jenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H Beaty, Azeez Butali, Carmen J Buxó, Lord J J Gowans, Jacqueline T Hecht, Ross E Long, Lina Moreno, Jeffrey C Murray, Ieda M Orioli, Carmencita Padilla, George L Wehby, Eleanor Feingold, Elizabeth J Leslie-Clarkson, Seth M Weinberg, Mary L Marazita, John R Shaffer   +18 more
doaj   +1 more source

Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family

Frontiers in Medicine
BackgroundX-linked Alport syndrome (XLAS) is a disorder of type IV collagen structure caused by pathogenic variants of the COL4A5 gene and characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Although mutation screening is
Pei Qian, Hui-mei Huang, Lei Suo, Zhijuan Li, Min Zhang, Ying Bao   +5 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A deep intronic SMARCB1 variant associated with schwannomatosis

Clinical Genetics, 2019
Miriam J. Smith, Naomi L. Bowers, Catherine Banks, Rosanna Coates‐Brown, Katrina A. Morris, Lisa Ewans, Meredith Wilson, Jason Pinner, Sanjeev S. Bhaskar, Francisco Cammarata‐Scalisi, Andrew J. Wallace, Daffyd Gareth R. Evans   +11 more
openaire   +3 more sources

DPYD and UGT1A1 Genotype‐Based Dosing for Fluoropyrimidines and Irinotecan Chemotherapy: Variant‐Specific Impact on Treatment Intensity and Toxicity

International Journal of Cancer, EarlyView.
Pre‐treatment DPYD and UGT1A1 genotyping is increasingly used to prevent fluoropyrimidine‐ and irinotecan‐related toxicity, but variant‐specific real‐world effects remain unclear. In an unselected cohort of cancer patients with actionable genotypes, genotype‐driven dosing improved safety while preserving treatment exposure in high‐risk DPYD c.1905+1G>A
Martina Gambron, Elena Peruzzi, Samantha Perfler, Marcella Montico, Riccardo Cecchin, Elena De Mattia, Michele Spina, Camilla Lisanti, Serena Corsetti, Luisa Foltran, Fabio Puglisi, Rossana Roncato, Erika Cecchin   +12 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology
Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD.
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
doaj   +1 more source

Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin, Dong Keon Kim, Yoojeong Seo, Hyeon Hee Lee, Jihye Park, Soo Jung Park, Jae Jun Park, Jae Hee Cheon, Jongwon Oh, Sanghoo Lee, Tae Il Kim   +10 more
wiley   +1 more source

Case Report: A somatic NF1 splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis

Frontiers in Neuroscience
BackgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by loss-of-function variants in the NF1 gene. Segmental neurofibromatosis represents a rare mosaic form resulting from postzygotic mutations and is often ...
Song Su, Song Su, Haochen Zou, Yinhua Lin, Huafang Jiang, Ying Ren, Ying Ren, Wenchao Zhang, Wenchao Zhang, Wandong Hu, Wandong Hu, Deyue Li, Deyue Li, Wei Zhang, Hongwei Zhang, Hongwei Zhang   +15 more
doaj   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source