Results 251 to 260 of about 159,772 (339)

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome. [PDF]

Front Oncol, 2020
Li J, Li Y, Ni H, Yang Z, Chen J, Li Y, Ding S, Jiang X, Wang M, Li L, Lv X, Ruan X, Jiang Q, Lei Z, Cheng Y, Huang J, Deng A.   +16 more
europepmc   +1 more source

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families. [PDF]

Diagnostics (Basel), 2021
Grünert SC, Hannibal L, Schumann A, Rosenbaum-Fabian S, Beck-Wödl S, Haack TB, Grimmel M, Bertrand M, Spiekerkoetter U.   +8 more
europepmc   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy. [PDF]

Exp Ther Med
Mao B, Yang J, Zhao X, Jia X, Shi X, Zhao L, Banerjee S, Zhang L, Ma X.   +8 more
europepmc   +1 more source

Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

, 2012
Barbara Wappenschmidt, Alexandra Becker, Jan Hauke, Weber Ute, Stefanie Engert, Juliane Köhler, Karin Kast, Norbert Arnold, Kerstin Rhiem, Eric Hahnen, Alfons Meindl, Rita K. Schmutzler   +11 more
openalex   +2 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review. [PDF]

Front Endocrinol (Lausanne)
Fu X, Chen S, Huang X, Lu Q, Cui Y, Lin W, Yang Q.   +6 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source