Results 131 to 140 of about 50,370 (253)

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 editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A. [PDF]

Blood Adv, 2023
Hiramoto T, Inaba H, Baatartsogt N, Kashiwakura Y, Hayakawa M, Kamoshita N, Nishimasu H, Nureki O, Kinai E, Ohmori T.   +9 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

Identification and Targeted Correction of a Pathogenic <i>PMP22</i> Deep Intronic Variant. [PDF]

Int J Mol Sci
Chausova P, Murtazina A, Bychkov I, Anisimova I, Ilyushkina A, Mollaeva K, Magomedova A, Tabakov V, Hegay T, Chukhrova A, Polyakov A.   +10 more
europepmc   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source

CRISPR-Cas12a for Birt-Hogg-Dubé syndrome: a promising diagnostic tool for deep intronic variant detection. [PDF]

Ann Med Surg (Lond)
Imran SB.
europepmc   +1 more source

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. [PDF]

NPJ Genom Med, 2023
Flanagan FO, Holtz AM, Vargas SO, Genetti CA, Schmitz-Abe K, Casey A, Kennedy JC, Raby BA, Mullen MP, Fishman MP, Agrawal PB.   +10 more
europepmc   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

An intronic variant in Ferredoxin Reductase (FDXR) creates a cryptic exon in Quarter Horses with Equine Juvenile Spinocerebellar Ataxia. [PDF]

PLoS Genet
Brown BN, Dahlgren AR, Ghosh S, Durbin-Johnson B, Willis A, Olivas C, York D, Grahn R, Bellone RR, Cortopassi GA, Miller AD, Brown CT, Woolard K, Finno CJ.   +13 more
europepmc   +1 more source

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome. [PDF]

Front Genet, 2023
Rossi C, Ramadan S, Evangelisti C, Ferrari S, Accadia M, Toydemir RM, Panza E.   +6 more
europepmc   +1 more source