Results 191 to 200 of about 79,064 (227)

Whole-exome sequencing in a Turkish autism spectrum disorder cohort: a retrospective study of molecular diagnostic yield in isolated and complex presentations. [PDF]

BMC Psychiatry
Mutlu MB, Sanrı A, Yaralı O, Sezer Ö, Kılıçaslan F, Gümüş H, Kumandaş S, Öz Ö.   +7 more
europepmc   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

STK11 Mutations and Deletions Define an Aggressive Molecular Subgroup of Cervical Adenocarcinoma. [PDF]

Cancer Med
Robinson EW, Murphy EA, Albanez A, Tulsyan S, Lou H, Xie Y, Zhou W, Yang Q, Joe T, Zhang T, Liu J, Luo W, Wu D, Higson H, Viard M, Carrington M, Oberley M, Morales H, Mirabello L, Alvirez E, Orozco R, Gharzouzi E, Dean M.   +22 more
europepmc   +1 more source

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Clinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma, Neta Barnoy, Prakadeeswari Gopalakrishnan, Keren Dichter, Rotem Mizrachi, Manar Salameh, Eyal Banin, Dror Sharon, Adi Inbal, Samer Khateb   +9 more
wiley   +1 more source

Genetic analysis of Behçet's disease using whole-exome sequencing and bioinformatics analysis in Korean patients. [PDF]

Front Genet
Bayarsaikhan E, Ahn H, Kim S, Park YB, Lee JH.   +4 more
europepmc   +1 more source

Causal subgroups and declining rates of cerebral palsy in Victoria, Australia

Developmental Medicine &Child Neurology, EarlyView.
In this population‐based study, the main contributors to declining rates of cerebral palsy in Victoria, Australia, were causal subgroups involving presumed perinatal brain insults in neonates born preterm and at term requiring higher nursery care.
Susan M. Reid, Gina L. Hinwood, Angela T. Guzys, Rod W. Hunt, Dinah S. Reddihough   +4 more
wiley   +1 more source

New genetic insights into primary aldosteronism-maybe. [PDF]

J Endocr Soc
Kirschner LS.
europepmc   +1 more source

Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing. [PDF]

Neurogenetics
Najarzadeh Torbati P, Boostani R, Safi M, Ahangari N, Doosti M, Badpar H, Beiraghi Toosi M, Ghayoor Karimiani E, Vona B.   +8 more
europepmc   +1 more source

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner. [PDF]

Nat Genet
Boltz TA, Chu BB, DeFelice M, Liao C, Sealock JM, Ye R, Goldstein JI, Majara L, Fu JM, Service SK, Zhan L, Medland SE, Chapman SB, Rubinacci S, Grimsby JL, Abebe T, Alemayehu M, Ashaba FK, Atkinson EG, Bigdeli TB, Bradway AB, Brand H, Chibnik LB, DeLuca S, Diaz-Zuluaga AM, Fekadu A, Gatzen M, Gelaye B, Gichuru S, Gildea ML, Hill TC, Huang H, Hubbard KM, Injera WE, James R, Joloba M, Kachulis C, Kalmbach PR, Kamulegeya R, Kigen G, Kim S, Koen N, Kwobah EK, Kyebuzibwa J, Lee S, Lennon NJ, Lind PA, Lopera-Maya EA, Makale J, Mangul S, McMahon J, Mowlem P, Musinguzi H, Mwema RM, Nakasujja N, Newman CP, Nkambule LL, O'Neil CR, Olivares AM, Olsen CM, Ongeri L, Parsa SJ, Pretorius A, Qin S, Ramesar R, Reagan FL, Sabatti C, Schneider JA, Shiferaw W, Stevens C, Stevenson A, Stricker E, Stroud RE, Tang J, Townsend M, Whiteman D, Yohannes MT, Yu M, Yuan K, NeuroGAP-Psychosis Study, Akena D, Atwoli L, Kariuki SM, Koenen KC, Newton CRJC, Stein DJ, Teferra S, Zingela Z, Pato CN, Pato MT, Lopez-Jaramillo C, Freimer NB, Ophoff RA, Olde Loohuis LM, Talkowski ME, Neale BM, Howrigan DP, Martin AR.   +97 more
europepmc   +1 more source