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Wyszukujesz frazę ""Consanguinity"" wg kryterium: Temat


Tytuł :
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Autorzy :
Castilla-Vallmanya L; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Gürsoy S; Department of Pediatric Genetics, Dr. Behcet Uz Children's Hospital, Izmir 35210, Turkey.
Giray-Bozkaya Ö; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
Prat-Planas A; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Bullich G; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.
Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.
Centeno-Pla M; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Rabionet R; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Grinberg D; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Balcells S; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Urreizti R; IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Feb 04; Vol. 22 (4). Date of Electronic Publication: 2021 Feb 04.
Typ publikacji :
Case Reports
MeSH Terms :
Consanguinity*
Mutation*
Acyltransferases/*genetics
Membrane Proteins/*genetics
Nuclear Proteins/*genetics
Transcription Factors/*genetics
Child ; Child, Preschool ; DNA Mutational Analysis ; Facies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Pedigree ; Phenotype ; Radiography ; Turkey
Raport
Tytuł :
2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.
Autorzy :
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 395-399.
Typ publikacji :
Congress
MeSH Terms :
Consanguinity*
Genetics, Medical/*trends
Genetics, Population/*trends
Genome, Human/*genetics
Humans ; Molecular Sequence Annotation
Tytuł :
Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study.
Autorzy :
Mone F; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
Doyle S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Ahmad A; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Abu Subieh H; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Hamilton S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Allen S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Marton T; West Midland's Perinatal Pathology Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Williams D; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
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Źródło :
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2021 Mar; Vol. 100 (3), pp. 418-424. Date of Electronic Publication: 2020 Nov 27.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Pregnancy Outcome*
Congenital Abnormalities/*diagnosis
Congenital Abnormalities/*genetics
Adult ; Bangladesh/ethnology ; Congenital Abnormalities/mortality ; Female ; Humans ; Infant ; Infant Mortality ; Infant, Newborn ; Male ; Pakistan/ethnology ; Pregnancy ; Prospective Studies ; Retrospective Studies ; United Kingdom
Czasopismo naukowe
Tytuł :
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.
Autorzy :
Ouhenach M; Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, BP 769,, Rabat, Morocco. .; Human Genomics Center, Faculty of Medicine and Pharmacy, Rabat, Morocco. .
Zrhidri A; Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, BP 769,, Rabat, Morocco.; Human Genomics Center, Faculty of Medicine and Pharmacy, Rabat, Morocco.
Jaouad IC; Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, BP 769,, Rabat, Morocco.; Human Genomics Center, Faculty of Medicine and Pharmacy, Rabat, Morocco.
Smaili W; Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, BP 769,, Rabat, Morocco.
Sefiani A; Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Battouta, BP 769,, Rabat, Morocco.; Human Genomics Center, Faculty of Medicine and Pharmacy, Rabat, Morocco.
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Dec 12; Vol. 21 (1), pp. 240. Date of Electronic Publication: 2020 Dec 12.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Genetic Counseling*
Mutation*
Amino Acid Transport Systems, Neutral/*genetics
Cystinosis/*genetics
Adult ; Amino Acid Transport Systems, Neutral/deficiency ; Cystinosis/diagnosis ; Cystinosis/pathology ; Female ; Gene Expression ; Genetic Testing ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Morocco ; Pedigree ; Risk
Czasopismo naukowe
Tytuł :
A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency.
Autorzy :
Liu M; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.
Wang H; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.
Lin M; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.
Jin Y; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.
Yang L; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.
Wang M; Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.
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Źródło :
Hematology (Amsterdam, Netherlands) [Hematology] 2020 Dec; Vol. 25 (1), pp. 502-506.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Consanguinity*
Homozygote*
Mutation, Missense*
Phenotype*
Factor XII Deficiency/*diagnosis
Factor XII Deficiency/*genetics
Alleles ; Amino Acid Substitution ; Blood Coagulation ; Computational Biology/methods ; DNA Mutational Analysis ; Factor XII/chemistry ; Factor XII/genetics ; Factor XII Deficiency/blood ; Factor XII Deficiency/therapy ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Pedigree ; Structure-Activity Relationship
Czasopismo naukowe
Tytuł :
Genetic and reproductive consequences of consanguineous marriage in Bangladesh.
Autorzy :
Anwar S; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Taslem Mourosi J; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Arafat Y; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Hosen MJ; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
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Źródło :
PloS one [PLoS One] 2020 Nov 30; Vol. 15 (11), pp. e0241610. Date of Electronic Publication: 2020 Nov 30 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Congenital Abnormalities/*epidemiology
Genetic Diseases, Inborn/*epidemiology
Population/*genetics
Reproductive Behavior/*statistics & numerical data
Adult ; Bangladesh ; Child ; Congenital Abnormalities/genetics ; Female ; Genetic Diseases, Inborn/genetics ; Humans ; Male ; Mortality/trends ; Multifactorial Inheritance ; Pedigree ; Selection, Genetic
Czasopismo naukowe
Tytuł :
Autozygosity influences cardiometabolic disease-associated traits in the AWI-Gen sub-Saharan African study.
Autorzy :
Ceballos FC; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Hazelhurst S; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; School of Electrical & Information Engineering, University of the Witwatersrand, Johannesburg, South Africa.
Clark DW; Centre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK.
Agongo G; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Navrongo Health Research Centre, Navrongo, Ghana.
Asiki G; African Population and Health Research Center, Nairobi, Kenya.
Boua PR; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Faculty of Health Sciences University of the Witwatersrand, Division of Human Genetics, National Health Laboratory Service and School of Pathology, Johannesburg, South Africa.; Clinical Research Unit of Nanoro, Institut de Recherche en Sciences de la Santé, Nanoro, Burkina Faso.
Xavier Gómez-Olivé F; MRC/Wits Rural Public Health and Health Transitions Research Unit (Agincourt), School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Mashinya F; Department of Pathology and Medical Science, School of Health Care Sciences, Faculty of Health Sciences, University of Limpopo, Polokwane, South Africa.
Norris S; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Faculty of Health Sciences University of the Witwatersrand, Division of Human Genetics, National Health Laboratory Service and School of Pathology, Johannesburg, South Africa.
Wilson JF; Centre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK.; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK.
Ramsay M; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. .; Faculty of Health Sciences University of the Witwatersrand, Division of Human Genetics, National Health Laboratory Service and School of Pathology, Johannesburg, South Africa. .
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Źródło :
Nature communications [Nat Commun] 2020 Nov 13; Vol. 11 (1), pp. 5754. Date of Electronic Publication: 2020 Nov 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Genome, Human*
Cardiovascular Diseases/*genetics
Africa South of the Sahara/epidemiology ; Cardiovascular Diseases/epidemiology ; Female ; Genes, Recessive ; Genome-Wide Association Study ; Homozygote ; Humans ; Inbreeding Depression ; Male ; Obesity/epidemiology ; Obesity/genetics ; Phenotype ; Sex Factors ; Urbanization
Czasopismo naukowe
Tytuł :
Deaf intermarriage has limited effect on the prevalence of recessive deafness and no effect on underlying allelic frequency.
Autorzy :
Braun DC; Department of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Jain S; Department of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Epstein E; Department of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Greenwald BH; Department of History, Philosophy, Religion, and Sociology, Gallaudet University, Washington, D.C., United States of America.
Herold B; Department of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
Gray M; Department of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C., United States of America.
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Źródło :
PloS one [PLoS One] 2020 Nov 04; Vol. 15 (11), pp. e0241609. Date of Electronic Publication: 2020 Nov 04 (Print Publication: 2020).
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Gene Frequency*
Deafness/*genetics
Female ; Genes, Recessive ; Humans ; Male ; Models, Genetic ; Phenotype
Czasopismo naukowe
Tytuł :
Consanguineous marriages among Andalusian Gitanos/Calé : a genealogical analysis (1925-2006).
Autorzy :
Gamella JF; Departamento de Antropología Social, Universidad de Granada, Spain.
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Źródło :
Journal of biosocial science [J Biosoc Sci] 2020 Nov; Vol. 52 (6), pp. 809-831. Date of Electronic Publication: 2019 Dec 13.
Typ publikacji :
Historical Article; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Pedigree*
Family/*history
Marriage/*history
Marriage/*statistics & numerical data
Minority Groups/*history
Female ; History, 20th Century ; History, 21st Century ; Humans ; Male ; Spain
Czasopismo naukowe
Tytuł :
Has the long-predicted decline in consanguineous marriage in India occurred?
Autorzy :
Kumari N; International Institute for Population Sciences (IIPS), Mumbai, India.
Bittles AH; School of Medical and Health Sciences, Edith Cowan University, Perth, Australia.; Centre for Comparative Genomics, Murdoch University, Perth, Australia.
Saxena P; International Institute for Population Sciences (IIPS), Mumbai, India.
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Źródło :
Journal of biosocial science [J Biosoc Sci] 2020 Sep; Vol. 52 (5), pp. 746-755. Date of Electronic Publication: 2019 Dec 06.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Marriage*
Adult ; Educational Status ; Employment ; Ethnic Groups ; Family Characteristics ; Female ; Humans ; India ; Male ; Prevalence
Czasopismo naukowe
Tytuł :
The structure of first-cousin marriages in Brazil.
Autorzy :
Otto PA; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo, SP, 05508-090, Brazil.
Lemes RB; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo, SP, 05508-090, Brazil.
Farias AA; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo, SP, 05508-090, Brazil.
Weller M; Núcleo de Estudos em Genética e Educação, Universidade Estadual da Paraíba, Rua das Baraúnas, s/n - Prédio da Integração Acadêmica - sala 329, Campus I - Bodocongó, Campina Grande, Paraíba, Brazil.
Lima SOA; Núcleo de Estudos em Genética e Educação, Universidade Estadual da Paraíba, Rua das Baraúnas, s/n - Prédio da Integração Acadêmica - sala 329, Campus I - Bodocongó, Campina Grande, Paraíba, Brazil.
Albino VA; Núcleo de Estudos em Genética e Educação, Universidade Estadual da Paraíba, Rua das Baraúnas, s/n - Prédio da Integração Acadêmica - sala 329, Campus I - Bodocongó, Campina Grande, Paraíba, Brazil.
Marques-Alves YK; Núcleo de Estudos em Genética e Educação, Universidade Estadual da Paraíba, Rua das Baraúnas, s/n - Prédio da Integração Acadêmica - sala 329, Campus I - Bodocongó, Campina Grande, Paraíba, Brazil.
Pardono E; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo, SP, 05508-090, Brazil.
Bocangel MAP; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo, SP, 05508-090, Brazil.
Santos S; Núcleo de Estudos em Genética e Educação, Universidade Estadual da Paraíba, Rua das Baraúnas, s/n - Prédio da Integração Acadêmica - sala 329, Campus I - Bodocongó, Campina Grande, Paraíba, Brazil. .
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Źródło :
Scientific reports [Sci Rep] 2020 Sep 23; Vol. 10 (1), pp. 15573. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Marriage*
Brazil/epidemiology ; Family ; Female ; Humans ; Male ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
Prevalence and pattern of consanguineous marriage among educated married individuals in Riyadh.
Autorzy :
Mahboub SM; College of Health and Rehabilitation Sciences, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Alsaqabi AA; College of Health and Rehabilitation Sciences, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Allwimi NA; College of Health and Rehabilitation Sciences, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Aleissa DN; College of Health and Rehabilitation Sciences, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
Al-Mubarak BA; College of Health and Rehabilitation Sciences, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.
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Źródło :
Journal of biosocial science [J Biosoc Sci] 2020 Sep; Vol. 52 (5), pp. 768-775. Date of Electronic Publication: 2019 Nov 29.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Marriage*
Adult ; Cross-Sectional Studies ; Educational Status ; Family ; Female ; Humans ; Male ; Middle Aged ; Prevalence ; Saudi Arabia/epidemiology ; Spouses ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Tytuł :
Consanguinity in patients with mesial temporal lobe epilepsy due to hippocampal sclerosis in a Saudi population.
Autorzy :
Alqadi KS; Department of Neurosciences, King Faisal Specialist Hospital & Research Center, Jeddah, Kingdom of Saudi Arabia. E-mail: .
Rammal SA
Alam ME
Alshahrani AM
Baeesa SS
Kayyali HR
Babtain FA
Al-Said YA
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Źródło :
Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2020 Aug; Vol. 25 (4), pp. 276-280.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Brain Diseases/*complications
Epilepsy, Temporal Lobe/*epidemiology
Epilepsy, Temporal Lobe/*etiology
Hippocampus/*pathology
Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Retrospective Studies ; Saudi Arabia ; Sclerosis ; Young Adult
Czasopismo naukowe
Tytuł :
Marriage patterns in Sri Lanka and the prevalence of parental consanguinity in patients with β-thalassaemia: a cross-sectional descriptive analysis.
Autorzy :
Premawardhena AP; Faculty of Medicine, University of Kelaniya, Sri Lanka.
De Silva ST; Faculty of Medicine, University of Kelaniya, Sri Lanka.
Goonatilleke MDDC; Faculty of Medicine, University of Kelaniya, Sri Lanka.
Ediriweera DS; Faculty of Medicine, University of Kelaniya, Sri Lanka.
Mettananda S; Faculty of Medicine, University of Kelaniya, Sri Lanka.
Rodrigo BKRP; Faculty of Medicine, University of Kelaniya, Sri Lanka.
Allen A; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Weatherall DJ; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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Źródło :
Journal of biosocial science [J Biosoc Sci] 2020 Jul; Vol. 52 (4), pp. 573-584. Date of Electronic Publication: 2019 Oct 25.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Marriage*
Parents*
beta-Thalassemia/*epidemiology
beta-Thalassemia/*prevention & control
Adolescent ; Adult ; Aged ; Awareness ; Cross-Sectional Studies ; Ethnic Groups ; Female ; Humans ; Male ; Middle Aged ; Prevalence ; Prospective Studies ; Sri Lanka/epidemiology ; Young Adult ; beta-Thalassemia/ethnology ; beta-Thalassemia/psychology
Czasopismo naukowe
Tytuł :
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Autorzy :
Zhou Y; Seven Section of Department of Gynaecology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Tariq M; Human Molecular Genetics, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, 38000, Pakistan.
He S; BGI-Shenzhen, Shenzhen, 518083, China.; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.
Abdullah U; Human Molecular Genetics, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, 38000, Pakistan.
Zhang J; BGI-Shenzhen, Shenzhen, 518083, China. .; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China. .
Baig SM; Human Molecular Genetics, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, 38000, Pakistan. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Jul 18; Vol. 21 (1), pp. 151. Date of Electronic Publication: 2020 Jul 18.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Whole Exome Sequencing*
Hearing Loss/*genetics
Mutation/*genetics
Female ; Hearing Loss/diagnosis ; Humans ; Male ; Pakistan ; Pedigree ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
A dynastic elite in monumental Neolithic society.
Autorzy :
Cassidy LM; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland. .
Maoldúin RÓ; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.; The Irish Fieldschool of Prehistoric Archaeology, National University of Ireland Galway, Galway, Ireland.; Archaeological Management Solutions, Kilrush, Ireland.
Kador T; UCL Arts and Sciences, University College London, London, UK.
Lynch A; National Monuments Service, Department of Culture, Heritage and the Gaeltacht, Dublin, Ireland.
Jones C; School of Geography, Archaeology, and Irish Studies, National University of Ireland Galway, Galway, Ireland.
Woodman PC; Department of Archaeology, University College Cork, Cork, Ireland.
Murphy E; Archaeology and Palaeoecology, School of Natural and Built Environment, Queen's University Belfast, Belfast, UK.
Ramsey G; National Museums NI, Cultra, UK.
Dowd M; CERIS, School of Science, Institute of Technology Sligo, Sligo, Ireland.
Noonan A; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Campbell C; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Jones ER; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.; Department of Zoology, University of Cambridge, Cambridge, UK.; Genomics Medicine Ireland, Dublin, Ireland.
Mattiangeli V; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Bradley DG; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland. .
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Źródło :
Nature [Nature] 2020 Jun; Vol. 582 (7812), pp. 384-388. Date of Electronic Publication: 2020 Jun 17.
Typ publikacji :
Historical Article; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Hierarchy, Social/*history
Incest/*history
Societies/*history
Adult ; Burial/history ; DNA, Ancient/analysis ; Family/history ; Female ; Genome, Human/genetics ; Haplotypes/genetics ; History, Ancient ; Humans ; Ireland ; Male
Czasopismo naukowe
Tytuł :
Relationship between parental consanguinity and digit ratios (2D:4D) among Turkish newborns in Sivas.
Autorzy :
Ertuğrul B; Faculty of Literature, Department of Anthropology, Sivas Cumhuriyet University, Sivas, Turkey.
Özener B; Faculty of Literature, Department of Anthropology, İstanbul University, İstanbul, Turkey.
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Źródło :
American journal of human biology : the official journal of the Human Biology Council [Am J Hum Biol] 2020 May; Vol. 32 (3), pp. e23369. Date of Electronic Publication: 2019 Dec 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Fingers/*anatomy & histology
Female ; Humans ; Infant, Newborn ; Male ; Parents ; Sex Factors ; Turkey
Czasopismo naukowe
Tytuł :
Daughters witnessing domestic violence perpetrated by fathers on mothers: Case study from a private University of Karachi.
Autorzy :
Khalid Quddusi MB; Students Final Year, Hamdard College of Medicine & Dentistry, Karachi, Pakistan.
Jamal M; Final Year Student, Hamdard University, Karachi, Pakistan.
Mubeen SM; Department of Community Health Sciences, Hamdard College of Medicine & Dentistry, Hamdard University, Karachi, Pakistan.
Shaikh MA; Independent Consultant, Karachi.
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Źródło :
JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2020 Apr; Vol. 70 (4), pp. 772-775.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Fathers*
Mothers*
Nuclear Family*
Emotional Abuse/*statistics & numerical data
Exposure to Violence/*statistics & numerical data
Physical Abuse/*statistics & numerical data
Spouse Abuse/*statistics & numerical data
Cross-Sectional Studies ; Domestic Violence/statistics & numerical data ; Female ; Gender-Based Violence/statistics & numerical data ; Humans ; Pakistan/epidemiology ; Students ; Surveys and Questionnaires ; Universities
Czasopismo naukowe
Tytuł :
Identification of homozygous mutations for hearing loss.
Autorzy :
Dianatpour M; Department of Medical Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Smith E; Department of Internal Medicine, Yale Cardiovascular Research Center, Yale University, School of Medicine, New Haven, CT, United States. Electronic address: .
Hashemi SB; Department of Otolaryngology, Shiraz University of Medical Sciences, Shiraz, Iran.
Farazifard MA; Department of Medical Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Nezafat N; Pharmaceutical Sciences Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Pharmaceutical Biotechnology, School of Pharmacy, Shiraz University of Medical Sciences, Shiraz, Iran.
Razban V; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.
Mani A; Department of Internal Medicine, Yale Cardiovascular Research Center, Yale University, School of Medicine, New Haven, CT, United States. Electronic address: .
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Źródło :
Gene [Gene] 2021 Apr 30; Vol. 778, pp. 145464. Date of Electronic Publication: 2021 Jan 29.
Typ publikacji :
Journal Article
MeSH Terms :
Frameshift Mutation*
Mutation, Missense*
Genetic Predisposition to Disease/*genetics
Hearing Loss/*genetics
Connexin 26/chemistry ; Connexin 26/genetics ; Consanguinity ; Female ; Homozygote ; Humans ; Iran ; Male ; Membrane Proteins/chemistry ; Membrane Proteins/genetics ; Models, Molecular ; Myosins/chemistry ; Myosins/genetics ; Pedigree ; Protein Stability ; Receptors, Estrogen/chemistry ; Receptors, Estrogen/genetics ; Whole Exome Sequencing
Czasopismo naukowe

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