Results 341 to 350 of about 1,408,208 (397)

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Polymorphisms of PPARα and ACTN3 Among Adolescent Egyptian Athletes: A Case-Control Study. [PDF]

Life (Basel)
Ramadan W, Monir R, El-Emam O, Diab M, Shaheen D.   +4 more
europepmc   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Identification of a new allele of <i>catp-4</i>. [PDF]

MicroPubl Biol
Gurjar A, Krauchunas AR.
europepmc   +1 more source

Changes in allele frequency [PDF]

, 2012
Liu, Huiming, Berg, Peer, Sørensen, Anders Christian, Norberg, Elise   +3 more
openaire   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Lack of association of the calpain-10 Indel-19 variant with chronic diseases in a Mexican population. [PDF]

BMC Res Notes
Meza-Espinoza JP, Zavala-Rubio JD, Leal-Ugarte E, Picos-Cárdenas VJ, Contreras-Gutiérrez JA, Madueña-Molina J, Camberos-Barraza J, Cervín-Serrano S, Varela Germán ML.   +8 more
europepmc   +1 more source

Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system. [PDF]

Sci Rep
Chmielarz-Czarnocińska A, Durska A, Skulimowski B, Sobaniec A, Gotz-Więckowska A, Strauss E.   +5 more
europepmc   +1 more source

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity. [PDF]

JAMA Ophthalmol
Liu S, Sadan AN, Bhattacharyya N, Zarouchlioti C, Szabo A, Abreu Costa M, Hafford-Tear NJ, Kladny AS, Dudakova L, Ciosi M, Moghul I, Wilkins MR, Allan B, Skalicka P, Hardcastle AJ, Pontikos N, Bunce C, Monckton DG, Muthusamy K, Liskova P, Tuft SJ, Davidson AE.   +21 more
europepmc   +1 more source

Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster β, BCL11A, and HBS1L-MYB. Pilot study. [PDF]

Front Med (Lausanne)
Ropero P, Peral M, Sánchez-Martínez LJ, Rochas S, Gómez-Álvarez M, Nieto JM, González FA, Villegas A, Benavente C.   +8 more
europepmc   +1 more source