Results 281 to 290 of about 1,703,111 (346)

SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China. [PDF]

Orphanet J Rare Dis
Xu F, Chen X, Xu Q, Zou A, Li X, Wang M, Yang L, Xie H.   +7 more
europepmc   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families. [PDF]

BMC Ophthalmol
Xing D, Zhao C, Shao Y, Yu R, Cheng Z, Wang L, Cai B, Gong Y, Li Z, Li X.   +9 more
europepmc   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Comprehensive analysis of the deleterious nonsynonymous, non-coding SNPs and cancer variants of human aldo-keto reductase type 1 (AKR1C1) protein and their probable association with disease risk and progression: a computational study. [PDF]

Biochem Biophys Rep
Nila NN, Mishu ID, Mahmud Z, Tamanna S, Fahima K, Khan AS, Ansari F, Hossain M, Howlader MZH.   +8 more
europepmc   +1 more source

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel. [PDF]

Front Endocrinol (Lausanne)
Veneziano C, Parrotta J, Lico D, Santamaria G, Antonucci G, De Angelis MT, Zullo F, Viglietto G, De Marco C, Venturella R.   +9 more
europepmc   +1 more source

Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling. [PDF]

Nat Genet
Krishna A, Meynert A, Dolt KS, Kelder M, Mesropian A, Ewing A, Brouwers C, Claassens JW, Linssen MM, Sheraz S, Taylor GC, Gautier P, Ferrer-Vaquer A, Grimes G, Becher H, Silk R, Gris-Oliver A, Pinyol R, Semple CA, Kendall TJ, Bird TG, Hadjantonakis AK, Marsh JA, Llovet JM, Hohenstein P, Wood AJ, Ozdemir DD.   +26 more
europepmc   +1 more source

CBC3T-3: a novel patient-derived cisplatin-resistant distal cholangiocarcinoma cell line harboring multiple TP53 missense mutations. [PDF]

Hum Cell
Xi J, Bai M, Zhong R, Huang C, An R, Gao L, Ma H, Tian L, Zhao J, Jiang N, He X, Wang L, Dong Z, Yue P, Lin Y, Bai Z, Meng W.   +16 more
europepmc   +1 more source