Results 321 to 330 of about 1,544,422 (378)

The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report. [PDF]

J Med Case Rep
He F, Wang Y, Ning W, Liu C, Guan X, Yao Y.   +5 more
europepmc   +1 more source

Oral mucosal manifestations with identical mutations to the bone marrow in a patient with VEXAS syndrome

Rheumatology &Autoimmunity, EarlyView.
Lilian Vasaitis, Lena Blomstrand, Tatjana Pandzic, Miklos Gulyas, Panagiotis Baliakas, Viktor Ljungström   +5 more
wiley   +1 more source

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology, EarlyView.
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem, Olivia Cunningham, Denise Williams, Joachim Wistuba, Liam McCarthy, Timothy G. Barrett, Renuka P. Dias   +6 more
wiley   +1 more source

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3. [PDF]

Front Neurol
Liu H, Dong J, Xie Z, Yu L.
europepmc   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

The Pathogenic Mechanism of a <i>De Novo</i> Missense Mutation F224S in <i>GABRB2</i> Causes Epileptic Encephalopathy and Developmental Delay

Pingping Li, Yue-Yuan Zhou, Li Gao, Jia-Nan Lv, Shishi Xu, Yanwen Zhao, Di Xu, Ruoke Huang, Xiong Zhang, Peijun Li, Zhiyong He, Xiaoqin Fu   +11 more
openalex   +1 more source

Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus. [PDF]

Sci Rep
Saud HA, O'Neill PA, Ring BC, Kudoh T.
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

A novel <i>SIGMAR1</i> missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China. [PDF]

Front Genet
Yu Q, Mohammed Nazar RB, Chen S, Qian Q, Wang J, Chen X.   +5 more
europepmc   +1 more source

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British Journal of Haematology, EarlyView.
Summary Non‐transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next‐generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association ...
Lucie Donaty, Muriel Giansily‐Blaizot, Ivan Bertchansky, Séverine Cunat, Vincent Azoury, Perrine Mahe, Patricia Aguilar Martinez   +6 more
wiley   +1 more source