Results 11 to 20 of about 473,993 (259)

Clinical and neurophysiological characteristics of heterozygous NPC1 carriers

JIMD Reports, 2019
Niemann‐Pick disease type C (NPC) is an uncommon lysosomal storage disorder, which is characterized neuropathologically by cholinergic dysfunction and presents clinically with a broad series of neurological signs and symptoms.
Alberto Benussi, Maria S. Cotelli, Valentina Cantoni, Valeria Bertasi, Marinella Turla, Andrea Dardis, Jessica Biasizzo, Rosa Manenti, Maria Cotelli, Alessandro Padovani, Barbara Borroni   +10 more
doaj   +2 more sources

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants

Frontiers in Physiology, 2020
Tooth agenesis is one of the most common orodental anomalies that demonstrate phenotypic and genotypic heterogeneity with a prevalence of 2.5%–7%. Mutations in WNT10A have been proposed to be the most common cause of nonsyndromic tooth agenesis (NSTA ...
Charinya Kanchanasevee, Kanokwan Sriwattanapong, Thanakorn Theerapanon, Sermporn Thaweesapphithak, Wanna Chetruengchai, Wanna Chetruengchai, Thantrira Porntaveetus, Vorasuk Shotelersuk, Vorasuk Shotelersuk   +8 more
doaj   +1 more source

Measles Vaccine and Encephalopathy

Pediatric Neurology Briefs, 1998
The relationship between acute encephalopathy followed by permanent brain injury or death associated with further attenuated measles vaccine was evaluated in 48 children, ages 10 to 49 months, reported to the National Vaccine Injury Compensation Program,
J Gordon Millichap
doaj   +1 more source

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Siahanidou, T, Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, JP, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +27 more
core   +1 more source

Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state

Journal of Applied Hematology, 2022
CONTEXT: Fetal hemoglobin (HbF) reduces to
Promil Jain, Nisha Marwah, Niti Dalal, Richa Pawar, Meenu Gill, Sanjay Kumar   +5 more
doaj   +1 more source

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Frontiers in Genetics, 2022
Introduction: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant systemic vascular disease that primarily involves small arteries.
Juyi Li, Tao Luo, Xiufang Wang, Mengjie Wang, Tao Zheng, Xiao Dang, Aiping Deng, Youzhi Zhang, Sheng Ding, Ping Jing, Lin Zhu   +10 more
doaj   +1 more source

Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. [PDF]

, 2022
We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the human GluN2A subunit of the N-methyl-D ...
Gallati, Sabrina, Claudine Rieubland, Myers, Scott J, Sabina Gallati, Rieubland, Claudine, Scott J. Myers, Teuscher, Daniel D, Strehlow, Vincent, Kim, Sukhan, Daniel D. Teuscher, Ramsey, Amy J, Vincent Peterson, Johannes R. Lemke, Traynelis, Stephen F, Vincent Strehlow, Amy J. Ramsey, Stephen F. Traynelis, Lemke, Johannes R, Sukhan Kim, Peterson, Vincent   +19 more
core   +2 more sources

Ignoring heterozygous sites biases phylogenomic estimates of divergence times: implications for the evolutionary history of Microtus voles [PDF]

, 2014
Phylogenetic reconstruction of the evolutionary history of closely related organisms may be difficult because of the presence of unsorted lineages and of a relatively high proportion of heterozygous sites that are usually not handled well by phylogenetic
Excoffier, Laurent, Lischer, Heidi, Heckel, Gerald   +2 more
core   +1 more source

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

JCRPE, 2022
INTRODUCTION: Standard dose synacthen stimulation test (SDSST) is a gold standard screening test for evaluating adrenal gland function. Despite studies using SDSST to identify heterozygosity in CYP21A2, the reliability of the test for this purpose is ...
Seher Polat, Yusuf Kemal Arslan
doaj   +1 more source

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Frontiers in Genetics, 2018
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP.
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee   +4 more
doaj   +1 more source