Results 61 to 70 of about 16,136 (213)

Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand

Pharmacology Research & Perspectives
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency holds critical health concerns, particularly due to its association with drug‐induced hemolysis triggered by medications such as antimalarials.
Natnicha Pengsuk, Kamonwan Chamchoy, Chatnapa Duangdee, Jantawan Satayarak, Naowarat Saralamba, Wang Nguitragool, Usa Boonyuen   +6 more
doaj   +1 more source

Genetic susceptibility to acute rheumatic fever: a systematic review and meta-analysis of twin studies.

PLoS ONE, 2011
BackgroundAcute rheumatic fever is considered to be a heritable condition, but the magnitude of the genetic effect is unknown. The objective of this study was to conduct a systematic review and meta-analysis of twin studies of concordance of acute ...
Mark E Engel, Raphaella Stander, Jonathan Vogel, Adebowale A Adeyemo, Bongani M Mayosi   +4 more
doaj   +1 more source

Descriptive statistics by zygosity for cognitive abilities.

, 2018
Descriptive statistics by zygosity for cognitive abilities.
Elliot M. Tucker-Drob (5184278), Elisabeth Hahn (2575804), Frank M. Spinath (2575801), Marion Spengler (5184275), Juliana Gottschling (5184269), Claudia Harzer (5184272)   +5 more
core   +1 more source

Table 2: SNPs per patient and zygosity information

, 2022
  SNPs per patient and zygosity information (0: homozygous for the reference, 1: heterozygous, 2: homozygous for the alternate) 
Nikoletta Katsaouni (12872234)
core   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Caracterización de gemelos con esquizofrenia en el municipio de Santiago de Cuba Characterization of twins with schizophrenia in the municipality of Santiago de Cuba

Medisan, 2010
Se realizó un estudio descriptivo y transversal de 24 pares de gemelos con diagnóstico de esquizofrenia, independientemente de su cigosidad, del municipio de Santiago de Cuba durante el período febrero-abril de 2007, seleccionados mediante un muestreo ...
Antonio César Núñez Copo, Juan Carlos Rodríguez Chang   +1 more
doaj  

The Use of Microsatellites in Zygosity Diagnosis of Twins

, 1993
Although numerous genetic and anthropological markers are available for determining zygosity of twins, there is still a need for a more practical and informative method in zygosity diagnosis.
P. Propping, R. Fimmers, E. Franzek, M. Stratmann, J. Erdmann, M.M. Nöthen   +5 more
core   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Serum lipids and serum uric acid in human twins

Journal of Lipid Research, 1965
This report describes a study of serum total cholesterol, free cholesterol, glyceride glycerol, total phospholipids, and uric acid in human twins and is presented in three sections.Section 1 presents evidence that interpair variance of free cholesterol ...
Julius Jensen, David H. Blankenhorn, H.P. Chin, Phillip Sturgeon, Arnold G. Ware   +4 more
doaj   +1 more source

Effects of Chorionicity and Zygosity on Triplet Birth Weight [PDF]

, 2012
Birth weight in triplets is, on average, lower than in singletons and twins, and more children are classified as having very low or extremely low birth weight.
Ponsen-Lamb, D.J., Haak, Monique C., Middeldorp, Christel M., Boomsma, D.I., Boomsma, Dorret I., Lamb, Diane J., van Beijsterveldt, C.E.M., Haak, M., Boomsma, D.I.; id_orcid, Middeldorp, C.M., Beijsterveldt, C.E.M. van, van Beijsterveldt, Catharina E. M., Overbeek, Lucy I. H., Lamb, D.J., Overbeek, L.I.H., Vink, J.M., Haak, M.C., Vink, Jacqueline M.   +17 more
core   +1 more source