Výsledky vyhľadávania - "Heterozygote"

[Carriers of pathogenic variants in inborn errors of immunity: genetic associations with disease].

Autori: Zhao J Wei XQ Zhao XD a ďalší

Zdroj: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2025 Dec 02; Vol. 63 (12), pp. 1373-1376.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

Výrazy zo slovníka MeSH: Genetic Predisposition to Disease* , Heterozygote* , Immunologic Deficiency Syndromes*/genetics, Humans ; Mutation ; Genetic Counseling

Compound Heterozygous Hb Milledgeville With -α ^4.2 Thalassemia-A Rare and First Reported Cause of Primary Erythrocytosis in an Indian Family.

Autori: Chauhan R Puri V Acharya S a ďalší

Zdroj: International journal of laboratory hematology [Int J Lab Hematol] 2025 Dec; Vol. 47 (6), pp. 1211-1214. Date of Electronic Publication: 2025 Aug 24.

Spôsob vydávania: Case Reports; Journal Article; Letter

Informácie o časopise: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1751-553X (Electronic) Linking ISSN: 17515521 NLM ISO Abbreviation: Int J Lab Hematol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Hemoglobins, Abnormal*/genetics , Polycythemia*/genetics , Polycythemia*/etiology , Polycythemia*/diagnosis , Heterozygote* , alpha-Thalassemia*/genetics , alpha-Thalassemia*/complications , alpha-Thalassemia*/diagnosis , alpha-Globins*/genetics, Humans ; Male ; Adult ; India ; Pedigree ; Female

A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 g ene suspected of having dehydrated hereditary stomatocytosis.

Autori: Chen W Li X Yang H a ďalší

Zdroj: Hematology (Amsterdam, Netherlands) [Hematology] 2025 Dec; Vol. 30 (1), pp. 2493014. Date of Electronic Publication: 2025 May 04.

Spôsob vydávania: Journal Article; Case Reports

Informácie o časopise: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE

Výrazy zo slovníka MeSH: Ion Channels*/genetics , Anemia, Hemolytic, Congenital*/genetics , Anemia, Hemolytic, Congenital*/diagnosis , Mutation* , Hydrops Fetalis*/genetics , Hydrops Fetalis*/diagnosis , Heterozygote* , beta-Thalassemia*/genetics , Thalassemia*/genetics, Humans ; Male ; Child ; East Asian People

SCR Disease Name: Xerocytosis, hereditary

Fitness landscapes of simple regulatory genetic interactions show pervasive heterozygote advantage and support stable polymorphism.

Autori: Porter AH Johnson NA Tulchinsky AY

Zdroj: Journal of theoretical biology [J Theor Biol] 2025 Nov 07; Vol. 614, pp. 112233. Date of Electronic Publication: 2025 Jul 30.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Country of Publication: England NLM ID: 0376342 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8541 (Electronic) Linking ISSN: 00225193 NLM ISO Abbreviation: J Theor Biol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Heterozygote* , Polymorphism, Genetic* , Genetic Fitness* , Models, Genetic*, Phenotype ; Selection, Genetic ; Transcription Factors/genetics ; Gene Frequency

Heterozygosity at a conserved candidate sex determination locus is associated with female development in the clonal raider ant ( Ooceraea biroi ).

Autori: Lacy KD Lee J Rozen-Gagnon K a ďalší

Zdroj: ELife [Elife] 2025 Nov 05; Vol. 14. Date of Electronic Publication: 2025 Nov 05.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Výrazy zo slovníka MeSH: Ants*/genetics , Ants*/growth & development , Sex Determination Processes* , Heterozygote*, Animals ; Female ; Male

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.

Autori: Nejati P Falsafi N Alimoradi E a ďalší

Zdroj: BMC medical genomics [BMC Med Genomics] 2025 Nov 04; Vol. 18 (1), pp. 176. Date of Electronic Publication: 2025 Nov 04.

Spôsob vydávania: Journal Article; Case Reports

Informácie o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Výrazy zo slovníka MeSH: Laminin*/genetics , Laminin*/chemistry , Muscular Dystrophies*/genetics , Muscular Dystrophies*/congenital , Muscular Dystrophies*/pathology , Heterozygote*, Humans ; Male ; Female ; Pedigree ; Exome Sequencing ; Mutation

SCR Disease Name: Muscular dystrophy congenital, merosin negative

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Autori: Wouters M Ehlers L Van Eynde W a ďalší

Zdroj: The Journal of experimental medicine [J Exp Med] 2025 Nov 03; Vol. 222 (11). Date of Electronic Publication: 2025 Aug 27.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE

Výrazy zo slovníka MeSH: Heterozygote* , Adenosine Deaminase*/genetics , Adenosine Deaminase*/deficiency , Severe Combined Immunodeficiency*/genetics , Intercellular Signaling Peptides and Proteins*/genetics , Intercellular Signaling Peptides and Proteins*/deficiency , Intercellular Signaling Peptides and Proteins*/chemistry , Agammaglobulinemia*/genetics , Mutation*/genetics , Genes, Dominant*, Humans ; Male ; Female ; Mutation, Missense/genetics ; Pedigree ; Child ; Child, Preschool ; Phenotype ; Adult ; Hereditary Autoinflammatory Diseases

SCR Disease Name: Severe combined immunodeficiency due to adenosine deaminase deficiency; deficiency of adenosine deaminase 2

Detecting early cardiomyopathy in transthyretin variant carriers: reappraising the diagnostic value of Perugini grade 1 radiotracer uptake on bone scintigraphy.

Autori: Tingen HSA Berends M Tubben A a ďalší

Zdroj: European journal of nuclear medicine and molecular imaging [Eur J Nucl Med Mol Imaging] 2025 Nov; Vol. 52 (13), pp. 5000-5005. Date of Electronic Publication: 2025 May 23.

Spôsob vydávania: Journal Article; Observational Study

Informácie o časopise: Publisher: Springer-Verlag Berlin Country of Publication: Germany NLM ID: 101140988 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1619-7089 (Electronic) Linking ISSN: 16197070 NLM ISO Abbreviation: Eur J Nucl Med Mol Imaging Subsets: MEDLINE

Výrazy zo slovníka MeSH: Cardiomyopathies*/diagnostic imaging , Cardiomyopathies*/genetics , Cardiomyopathies*/metabolism , Prealbumin*/genetics , Bone and Bones*/diagnostic imaging , Heterozygote* , Amyloid Neuropathies, Familial*/diagnostic imaging , Amyloid Neuropathies, Familial*/genetics , Amyloid Neuropathies, Familial*/complications, Humans ; Female ; Male ; Retrospective Studies ; Radionuclide Imaging ; Middle Aged ; Aged ; Radioactive Tracers ; Biological Transport ; Adult

SCR Disease Name: Amyloidosis, Hereditary, Transthyretin-Related

Heterozygous Kctd5 knockout mice exhibit abnormal lipid metabolism.

Autori: Ling Q Cao M Zhang HA a ďalší

Zdroj: The international journal of biochemistry & cell biology [Int J Biochem Cell Biol] 2025 Nov; Vol. 188, pp. 106851. Date of Electronic Publication: 2025 Aug 20.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9508482 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5875 (Electronic) Linking ISSN: 13572725 NLM ISO Abbreviation: Int J Biochem Cell Biol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Lipid Metabolism*/genetics , Heterozygote*, Animals ; Mice, Knockout ; Mice ; Male ; Female

ResynPy: a software for selecting pairs of complementary inbred lines to resynthesize valuable heterozygous genotypes.

Autori: Alexiou KG Eduardo I Arús P

Zdroj: BMC bioinformatics [BMC Bioinformatics] 2025 Oct 28; Vol. 26 (1), pp. 265. Date of Electronic Publication: 2025 Oct 28.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105 (Electronic) Linking ISSN: 14712105 NLM ISO Abbreviation: BMC Bioinformatics Subsets: MEDLINE

Výrazy zo slovníka MeSH: Software* , Heterozygote* , Plant Breeding*/methods , Inbreeding*, Genotype ; Genotyping Techniques

Machine learning improves detection of alpha thalassemia carriers compared to clinical features.

Autori: Mohammadi E Rastegar M Jamshidnezhad A a ďalší

Zdroj: Scientific reports [Sci Rep] 2025 Oct 21; Vol. 15 (1), pp. 36717. Date of Electronic Publication: 2025 Oct 21.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Výrazy zo slovníka MeSH: Machine Learning* , alpha-Thalassemia*/diagnosis , alpha-Thalassemia*/genetics , alpha-Thalassemia*/blood , Heterozygote*, Humans ; Male ; Female ; Erythrocyte Indices ; Adult ; Middle Aged ; Hemoglobins/analysis ; Young Adult ; Adolescent ; Erythrocyte Count

Prevalence of double heterozygotes of HbE and α-thal 1 (SEA) type in pregnancies and their partners that received antenatal care at Chiangrai Prachanukroh Hospital and reevaluated the cut-offs for differentiation.

Autori: Leckngam P Wamontree P Chuaykarn T

Zdroj: PloS one [PLoS One] 2025 Oct 07; Vol. 20 (10), pp. e0333761. Date of Electronic Publication: 2025 Oct 07 (Print Publication: 2025).

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Výrazy zo slovníka MeSH: alpha-Thalassemia*/epidemiology , alpha-Thalassemia*/genetics , alpha-Thalassemia*/diagnosis , Heterozygote* , Hemoglobin E*/genetics, Humans ; Female ; Pregnancy ; Thailand/epidemiology ; Prevalence ; Prenatal Care ; Retrospective Studies ; Adult ; Hemoglobins, Abnormal/genetics ; Genotype ; Male

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy.

Autori: Schwartz VR Schelhaas A Duker AL a ďalší

Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64136. Date of Electronic Publication: 2025 May 30.

Spôsob vydávania: Case Reports; Journal Article

Informácie o časopise: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Výrazy zo slovníka MeSH: Achondroplasia*/genetics , Achondroplasia*/mortality , Achondroplasia*/diagnosis , Heterozygote*, Humans ; Female ; Male ; Infant ; Quality of Life

Low-coverage sequencing and Wahlund effect severely bias estimates of inbreeding, heterozygosity and effective population size in North American wolves.

Autori: Kardos M Waples RS

Zdroj: Molecular ecology [Mol Ecol] 2025 Oct; Vol. 34 (20), pp. e17415. Date of Electronic Publication: 2024 May 24.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9214478 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-294X (Electronic) Linking ISSN: 09621083 NLM ISO Abbreviation: Mol Ecol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Wolves*/genetics , Inbreeding* , Heterozygote* , Genetics, Population*/methods, Animals ; Population Density ; Sequence Analysis, DNA/methods ; North America

Quantification of plasma APOE4 with a novel automated Lumipulse immunoassay enables the identification of homozygous and heterozygous APOE ε4 carrier status.

Autori: Musso G Cosma C Moz S a ďalší

Zdroj: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2026 Jan 15; Vol. 579, pp. 120659. Date of Electronic Publication: 2025 Oct 12.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

Výrazy zo slovníka MeSH: Apolipoprotein E4*/blood , Apolipoprotein E4*/genetics , Heterozygote* , Homozygote*, Humans ; Immunoassay/methods ; Female ; Male ; Aged ; Automation ; Middle Aged

Variant Calling in the Goldilocks Zone: How Reference Genome Choice and Read Mapping Stringency Impact Heterozygosity Estimates and Phylogenetic Analyses.

Autori: Mohn RA Garner M Manos PS a ďalší

Zdroj: Molecular ecology resources [Mol Ecol Resour] 2026 Jan; Vol. 26 (1), pp. e70079.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Blackwell Country of Publication: England NLM ID: 101465604 Publication Model: Print Cited Medium: Internet ISSN: 1755-0998 (Electronic) Linking ISSN: 1755098X NLM ISO Abbreviation: Mol Ecol Resour Subsets: MEDLINE

Výrazy zo slovníka MeSH: Phylogeny* , Quercus*/genetics , Quercus*/classification , Heterozygote* , Genome, Plant* , Genomics*/methods

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

Autori: Cen Z Zhang C Ge P a ďalší

Zdroj: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2026 Jan 01; Vol. 578, pp. 120491. Date of Electronic Publication: 2025 Jul 17.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

Výrazy zo slovníka MeSH: Citrulline*/blood , Citrulline*/metabolism , Argininosuccinate Synthase*/genetics , Argininosuccinate Synthase*/metabolism , Citrullinemia*/genetics , Citrullinemia*/blood , Citrullinemia*/metabolism , Heterozygote* , Asian People*/genetics, Humans ; Male ; Female ; Mutation ; Infant, Newborn ; China ; East Asian People

Genome wide association studies in yam reveal the challenge of high heterozygosity.

Autori: Agre PA Darkwa K Kohtaro I a ďalší

Zdroj: Scientific reports [Sci Rep] 2025 Jul 24; Vol. 15 (1), pp. 26929. Date of Electronic Publication: 2025 Jul 24.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Výrazy zo slovníka MeSH: Genome-Wide Association Study* , Dioscorea*/genetics , Heterozygote* , Genome, Plant*, Polymorphism, Single Nucleotide ; Genotype ; Plant Breeding ; Plant Tubers/genetics ; Genetic Markers ; Quantitative Trait Loci

Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review.

Autori: Simons J Dekker A Govaarts R a ďalší

Zdroj: Journal of neuromuscular diseases [J Neuromuscul Dis] 2025 Jul; Vol. 12 (4), pp. 473-486. Date of Electronic Publication: 2025 Mar 29.

Spôsob vydávania: Journal Article; Scoping Review

Informácie o časopise: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Výrazy zo slovníka MeSH: Neuromuscular Diseases*/genetics , Neuromuscular Diseases*/physiopathology , Neuromuscular Diseases*/diagnosis , Heterozygote* , Genetic Diseases, X-Linked*/genetics , Genetic Diseases, X-Linked*/physiopathology , Myopathies, Structural, Congenital*/genetics , Myopathies, Structural, Congenital*/physiopathology , Myopathies, Structural, Congenital*/diagnosis, Humans ; Female ; Adult

Estimation of genome-wide patterns of homozygosity, heterozygosity and inbreeding in crossbred dairy cattle population in Pakistan.

Autori: Nisa FU Usman M Ali A a ďalší

Zdroj: Tropical animal health and production [Trop Anim Health Prod] 2025 Sep 26; Vol. 57 (8), pp. 396. Date of Electronic Publication: 2025 Sep 26.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Springer Country of Publication: United States NLM ID: 1277355 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7438 (Electronic) Linking ISSN: 00494747 NLM ISO Abbreviation: Trop Anim Health Prod Subsets: MEDLINE

Výrazy zo slovníka MeSH: Inbreeding* , Homozygote* , Heterozygote* , Genome*, Animals ; Cattle/genetics ; Pakistan ; Female ; Dairying ; Polymorphism, Single Nucleotide