Results 171 to 180 of about 79,064 (227)

TargetQC: A targeted quality control framework for clinical genomic testing. [PDF]

iScience
Lan F, Wang Y, Lu Y, Wu B, Wang X, Li C, Liu B, Dong X.   +7 more
europepmc   +1 more source

A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility

Andrology, EarlyView.
ABSTRACT Background Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large‐headed spermatozoa with multiple flagella, usually caused by bi‐allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved.
Aurore Perrin, Frédéric Morel, Zeina Wehbe, Cynthia Frapsauce, Nadia Gueganic, Corinne Tous, Séverine Commet, Laura Dijols, Audrey Basinko, Nathalie Douet‐Guilbert, Célia Tebbakh, Zine‐Eddine Kherraf, Pierre F. Ray, Charles Coutton, Guillaume Martinez   +14 more
wiley   +1 more source

Genetic Ancestry and Affinity of a Local Population in Southern Thailand Using Whole-Exome Sequencing. [PDF]

Life (Basel)
Choochuen P, Sangkhathat S, Sukpan N, Singkhamanan K, Wonglapsuwan M, Sukpan P, Surachat K.   +6 more
europepmc   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Genome Sequencing Outperforms Exome Sequencing in Formalin-Fixed Paraffin Embedded Tumors Leading to Improved Treatment Options. [PDF]

Cancer Med
Ballin N, Ott A, Pogoda M, Harmuth F, Ulaganathan VK, Karelin A, Roggia C, Bonzheim I, Singer S, Sundberg-Malek H, Missios P, Ossowski S, Haack TB, Riess O, Bitzer M, Malek N, Schroeder C, Armeanu-Ebinger S.   +17 more
europepmc   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Non-Coding Structural Variants in Regulatory Regions and High Polygenic Burden May Jointly Contribute to Early-Onset Familial Hashimoto's Thyroiditis. [PDF]

Genes (Basel)
Boraska Perica V, Barić Žižić A, Sladić S, Vuletić M, Listeš I, Kaličanin D, Žnidar V, Čikeš Čulić V, Torlak Lovrić V, Punda A, Škrabić V, Barbalić M.   +11 more
europepmc   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Genomic Sequencing in Neonatal Encephalopathy and Suspected Hypoxic-Ischaemic Encephalopathy: A Systematic Review. [PDF]

Genes (Basel)
Colacurci D, Sarno L, Fiore E, Raimondi F, Martinelli N, Sirico A, Di Carlo C, Bifulco G, Guida M, Maruotti GM.   +9 more
europepmc   +1 more source