Results 21 to 30 of about 444,809 (263)

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

Molecular Genetics & Genomic Medicine, 2022
Background Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3‐methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial syndrome that is clinically and genetically heterogeneous.
Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel   +8 more
doaj   +1 more source

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia [PDF]

, 2011
Management of homozygous familial hypercholesterolaemia is notoriously difficult. For these patients, LDL apheresis is considered the treatment of choice.
Mladen Pavlovic, Jean-Marc Nuoffer, Matthias Gautschi, Pavlovic, Mladen, Nuoffer, Jean-Marc, Gautschi, Matthias   +5 more
core   +1 more source

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

Molecular Genetics & Genomic Medicine, 2020
Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare.
Quan-Fu Li, Hao‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu   +6 more
doaj   +1 more source

Familial Hypercholesterolemia: From Clinical Suspicion to Novel Treatments

Reviews in Cardiovascular Medicine, 2023
Familial hypercholesterolemia (FH) is the most common monogenic disorder in humans. It affects millions of people globally, increasing the risk of developing cardiovascular disease (CVD) at a younger age due to elevated levels of low-density lipoprotein ...
Saeid Mirzai, Parag Anilkumar Chevli, Rishi Rikhi, Michael D. Shapiro   +3 more
doaj   +1 more source

Detection of BCL11A, HMIP, and XmnI polymorphisms among anemic pregnant women in hospital Universiti Sains Malaysia

Journal of Applied Hematology, 2022
BACKGROUND: Anemia is one of the most common conditions in women during pregnancy. Fetal hemoglobin (HbF) levels are usually 3.2%) and normal HbA2 level (≤3.2%) to detect mutation at b-globin gene cluster. Allelic discrimination for rs1186868, rs9376090,
Yousef Saeed Mohammad Abu Za'ror, Siti Nor Assyuhada Mat Ghani, Nur Salwani Bakar, Zefarina Zulkafli, Maryam Azlan   +4 more
doaj   +1 more source

Production of heterozygous and homozygous clones in Nile tilapia

, 1998
Production of heterozygous and homozygous clones of Nile tilapia (Oreochromis niloticus L.) was successfully carried out. An outbred clonal line was produced by cross-breeding between a viable mitotic gynogenetic female and male (recessive mutation in a ...
Hussain, M Gulam, Penman, David, McAndrew, Brendan   +2 more
core   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

MATERNAL AND FETAL COMPLICATIONS OCCURRING IN HEREDITARY THROMBOPHILIA [PDF]

Romanian Journal of Pediatrics, 2017
Objective. To identify qualitative and quantitative changes involving coagulation factors engaged in maternal and fetal complications, to determine the level of correlation between them, and to highlight the involvement of hereditary thrombophilia among ...
Janina-Georgiana Nacea, Nicolae Cernea, Viorela Enachescu, Loredana Anghel, Constantin Kamal, Ion Cristian Efrem, Ana-Maria Patrascu, Ionela Rotaru   +7 more
doaj   +1 more source

Hypodontia and WNT10A mutation: A case report [PDF]

Stomatološki glasnik Srbije, 2018
Tooth agenesis is common dentofacial malformation in humans. Its etiology is still not clear. Hypodontia has been regarded as a multifactorial condition influenced by gene function, environmental interaction and developmental timing.
Živković-Sandić Marija, Stefanović Neda, Popović Branka, Glišić Branislav   +3 more
doaj  

Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

Frontiers in Genetics
IntroductionBiallelic loss-of-function variants in the SLC13A5 (solute carrier family 13, member 5) gene are responsible for autosomal recessive developmental and epileptic encephalopathy 25 with amelogenesis imperfecta (DEE25).
Hua He, Lijuan Long, Manling Tang, Qiang Xu, Shengwu Duan, Ge Chen, Yan Zhao, Qiongfang Wu, Jia Chen   +8 more
doaj   +1 more source