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المؤلفون: Ashutosh Dhingra, Joana R. Loureiro, Patrizia Rizzu, Vítor Tedim Cruz, Angela Timóteo, Claudia L. Oliveira, Guy A. Rouleau, Jorge Sequeiros, Andrés Ordóñez-Ugalde, José Bessa, Beatriz Quintáns, María Jesús Sobrido, Cristina Costa, Hugo Marcelino, Ana I. Seixas, Eva Brandão, Angel Carracedo, Paula Coutinho, Peter Heutink, Isabel Silveira, José Leal Loureiro
المساهمون: Instituto de Investigação e Inovação em Saúde
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007مصطلحات موضوعية: 0301 basic medicine, Adaptor Proteins Signal Transducing/genetics, Male, genetics [DNA, Intergenic], DNA Mutational Analysis, genetics [Introns], Nerve Tissue Proteins/metabolism, Gene mutation, medicine.disease_cause, Mutagenesis Insertional/genetics, 0302 clinical medicine, genetics [Adaptor Proteins, Signal Transducing], Cerebellum, Chromosome Segregation, RNA Messenger/metabolism, Embryonic Development/genetics, Nerve Tissue Proteins/genetics, genetics [RNA], genetics [Spinocerebellar Ataxias], Age of Onset, Exome, Genetics (clinical), genetics [Nerve Tissue Proteins], Genetics, Mutation, metabolism [Cerebellum], Chromosomes Human Pair 1/genetics, Middle Aged, Physical Chromosome Mapping, Pedigree, genetics [Microsatellite Repeats], Chromosomes, Human, Pair 1, Chromosomal region, Spinocerebellar ataxia, DNA Intergenic/genetics, DNA, Intergenic, Female, Adaptor Proteins Signal Transducing/metabolism, Adult, Adolescent, genetics [Chromosome Segregation], Haplotypes/genetics, genetics [Mutagenesis, Insertional], Microsatellite Repeats/genetics, Embryonic Development, Nerve Tissue Proteins, RNA/genetics, Biology, RNA Messenger/genetics, metabolism [RNA, Messenger], Article, Introns/genetics, 03 medical and health sciences, metabolism [Adaptor Proteins, Signal Transducing], genetics [RNA, Messenger], Young Adult, ddc:570, genetics [Haplotypes], medicine, Chromosome Segregation/genetics, Humans, Spinocerebellar Ataxias, Genetic Predisposition to Disease, RNA, Messenger, Gene, Alleles, Cerebellum/metabolism, Adaptor Proteins, Signal Transducing, Spinocerebellar Ataxias/genetics, metabolism [Nerve Tissue Proteins], DAB1 protein, human, Base Sequence, Intron, genetics [Embryonic Development], medicine.disease, Molecular biology, Introns, Mutagenesis, Insertional, Reelin Protein, 030104 developmental biology, HEK293 Cells, Haplotypes, genetics [Chromosomes, Human, Pair 1], RNA, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Microsatellite Repeats
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b3a79cc3c6bc2ea787f44e6f72164aTest
https://pubmed.ncbi.nlm.nih.gov/28686858Test -
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المؤلفون: Abdulrahman Alswaid, Kelly Springell, Sheila Scott, Ganesh H. Mochida, Raoul C.M. Hennekam, Ammar F. Mubaidin, Christopher A. Walsh, Daniel J. Hampshire, Peter Corry, Hussain Jafri, Yasmin Rashid, Emma Roberts, C. Geoffrey Woods, Marc Abramowicz, Eamonn R. Maher, Jean-Pierre Fryns, Jacquelyn Bond
المساهمون: Paediatric Genetics, Faculteit der Geneeskunde
المصدر: American journal of human genetics, 73(5), 1170-1177. Cell Press
American Journal of Human Genetics, 73, 1170-1177. Cell Pressمصطلحات موضوعية: Male, Microcephaly, MICROCEPHALIN, DNA Mutational Analysis, Locus (genetics), Genes, Recessive, Nerve Tissue Proteins, Consanguinity, Biology, Frameshift mutation, ASPM, 03 medical and health sciences, Exon, 0302 clinical medicine, Report, Intellectual Disability, medicine, Genetics, Humans, Pakistan, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, education, Frameshift Mutation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, CDK5RAP2, Polymorphism, Genetic, Base Sequence, Brain, Exons, medicine.disease, Introns, Phenotype, Haplotypes, Chromosomes, Human, Pair 1, Codon, Nonsense, Mutation, 030217 neurology & neurosurgery, Microsatellite Repeats
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb53ad4a57dce492d2a1d42376de5ed4Test
https://hdl.handle.net/11245Test/1 .217242 -
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المؤلفون: David G. I. Scott, Sylvana Pavek, Gérard Vaudour, Marc Delpech, Gilles Grateau, Alain Meyrier, Laurence Cuisset, Christian Vasseur, Anne Nicholls, Jacques S. Beckmann, Jean-Marie Berthelot, Joost P.H. Drenth, Richard A. Watts
المصدر: American Journal of Human Genetics, 65, 1054-1059
American Journal of Human Genetics, 65, pp. 1054-1059مصطلحات موضوعية: Male, Urticaria, Genetic Linkage, Molecular Sequence Data, Locus (genetics), Penetrance, Biology, Deafness, Genetic determinism, Muckle–Wells syndrome, Febris e causa ignota, Gene mapping, Familial Cold Autoinflammatory Syndrome, Genetic linkage, Muckle-Wells syndrome, Genetics, medicine, Humans, Genetics(clinical), Renal Insufficiency, Genetics (clinical), Genes, Dominant, Inflammation, Likelihood Functions, Fever of unknown origin, Amyloidosis, Arthritis, Chromosome Mapping, Articles, Syndrome, medicine.disease, Genomewide scan, Abdominal Pain, Pedigree, England, Chromosomes, Human, Pair 1, Female, France, Lod Score, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aaf236a63722d72dd6f28471d065588Test
https://doi.org/10.1086/302589Test -
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المؤلفون: Petra Platzer, Robert C Elston, Susan Lewis, Denise Daley, Joseph Willis, Georgia L. Wiesner, Sanford D Markowitz, Melissa MacMillen
المصدر: American journal of human genetics. 82(3)
مصطلحات موضوعية: Adult, Male, Candidate gene, Colorectal cancer, Genetic Linkage, Locus (genetics), Breast Neoplasms, Biology, Genetic determinism, Article, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, medicine, Genetics, Humans, Genetics(clinical), Genetic Predisposition to Disease, Genetic Testing, Family history, Genetics (clinical), 030304 developmental biology, Genetic testing, Aged, 0303 health sciences, medicine.diagnostic_test, Genome, Human, Siblings, Cancer, Middle Aged, medicine.disease, 3. Good health, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Colonic Neoplasms, Female, Genes, Neoplasm
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fd539d27b5a65057c84035ac8a6094Test
https://pubmed.ncbi.nlm.nih.gov/18313025Test -
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المؤلفون: Robert E. Ferrell, Donglei Hu, Elad Ziv, Scott Huntsman, Vijaya Ramesh, Gavin J. McDonald, Rongling Li, Tamara B. Harris, Alicja Waliszewska, Alexander P. Reiner, Philip L. De Jager, Arti Tandon, Steve Cummings, Pui-Yan Kwok, David Reich, Elizabeth J. Rossin, Joseph M. Zmuda, Melissa Garcia, Ludmila Pawlikowska, Christina Wassel-Fyr, Bani Tamraz, Nick Patterson, Edwin Choy
المصدر: American journal of human genetics. 80(4)
مصطلحات موضوعية: Male, Genotype, Genetic admixture, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Gene Frequency, Genetics, Humans, Genetics(clinical), Allele, Receptor, Interleukin 6, Gene, Genotyping, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, biology, Interleukin-6, Chromosome Mapping, Genomics, Receptors, Interleukin-6, Black or African American, Chromosomes, Human, Pair 1, biology.protein, Female, Lod Score, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4ebb008939847077b96dce2ecf01fbTest
https://pubmed.ncbi.nlm.nih.gov/17357077Test -
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المؤلفون: Therese R. Giambarresi, Lynn R. Goldin, Mary L. McMaster, Yan Bai, Margaret A. Tucker, Monica Ter-Minassian, Linda G. Vasquez, Stefan Boehringer
المصدر: American journal of human genetics. 79(4)
مصطلحات موضوعية: Male, Locus (genetics), Genetic determinism, Gene mapping, Genetic linkage, Report, medicine, Genetics, Humans, Genetics(clinical), Family, Genetic Predisposition to Disease, Genetics (clinical), biology, Models, Genetic, Genome, Human, Waldenstrom macroglobulinemia, medicine.disease, Pedigree, IgM Monoclonal Gammopathy, Immunoglobulin M, Chromosomes, Human, Pair 1, biology.protein, Microsatellite, Female, Chromosomes, Human, Pair 4, Lod Score, Waldenstrom Macroglobulinemia, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc9cddffe3975224702466696f07a0bTest
https://pubmed.ncbi.nlm.nih.gov/16960805Test -
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المؤلفون: Kathleen A. Hodgkinson, Paria Mohseni, Eva W.C. Chow, Anne S. Bassett, Linda M. Brzustowicz, Jaime Simone, Jared E. Hayter
المصدر: American journal of human genetics. 74(5)
مصطلحات موضوعية: Male, Candidate gene, Linkage disequilibrium, Canada, Genotype, Locus (genetics), Single-nucleotide polymorphism, Biology, behavioral disciplines and activities, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Gene Frequency, Japan, NOS1AP, Report, mental disorders, Genetics, Humans, Genetics(clinical), Family, Genetic Predisposition to Disease, Allele frequency, Genetics (clinical), Alleles, 030304 developmental biology, Adaptor Proteins, Signal Transducing, 0303 health sciences, Linkage Disequilibrium Mapping, Chromosome Mapping, DNA, Haplotypes, Chromosomes, Human, Pair 1, Schizophrenia, Female, Lod Score, Carrier Proteins, 030217 neurology & neurosurgery, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5835390b769b2507b5609be02335cf35Test
https://pubmed.ncbi.nlm.nih.gov/15065015Test -
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المؤلفون: Joseph A. Gogos, J. Louw Roos, Kimberly F. Doheny, Maria Karayiorgou, Sylvia Bochum, Gonçalo R. Abecasis, Rachel A. Burt, Marie Torrington, S. Laura Lundy, Diana Hall
المصدر: American journal of human genetics. 74(3)
مصطلحات موضوعية: Proband, Male, Genetic Linkage, Population, Locus (genetics), Biology, Genetic determinism, Statistics, Nonparametric, White People, 03 medical and health sciences, South Africa, 0302 clinical medicine, Genetic linkage, medicine, Genetics, Humans, Genetics(clinical), education, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Chromosome, Chromosome Mapping, Articles, Uniparental Disomy, medicine.disease, Uniparental disomy, Founder Effect, Pedigree, Chromosomes, Human, Pair 1, Schizophrenia, Female, Lod Score, 030217 neurology & neurosurgery, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc35678d57eaef4c13065dc3c52cd7c4Test
https://pubmed.ncbi.nlm.nih.gov/14750073Test -
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المؤلفون: Vincent Timmerman, Francisco de Assis Aquino Gondim, An Jacobs, Ivailo Tournev, Borjan Buzhov, Borjana Ishpekova, Els De Vriendt, Florian P. Thomas, Peter De Jonghe, Neviana Ivanova, Ivo Kremensky, Velina Guergueltcheva, Albena Jordanova, Ivan Litvinenko
المصدر: The American journal of human genetics
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Locus (genetics), Biology, Syndecan 1, Degenerative disease, Charcot-Marie-Tooth Disease, Report, Genetics, medicine, Humans, Genetics(clinical), Gene, Genetics (clinical), Haplotype, Chromosome Mapping, medicine.disease, Phenotype, Intermediate nerve, nervous system diseases, Pedigree, medicine.anatomical_structure, Membrane protein, Haplotypes, Chromosomes, Human, Pair 1, Lod Score
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f59e2d44f8c3e955ca1e7b15663694Test
https://pubmed.ncbi.nlm.nih.gov/14606043Test -
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المؤلفون: Charles E. Jackson, Irving B. Rosen, Maurine R. Hobbs
المصدر: American journal of human genetics. 70(5)
مصطلحات موضوعية: Genetic Markers, Population, Molecular Sequence Data, 030209 endocrinology & metabolism, Locus (genetics), Biology, 03 medical and health sciences, 0302 clinical medicine, Gene Order, Genetics, Humans, Genetics(clinical), Allele, education, Letter to the Editor, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Hyperparathyroidism, Tumor Suppressor Proteins, Haplotype, Physical Chromosome Mapping, Proteins, Syndrome, Jaw Neoplasms, Haplotypes, Genetic marker, Chromosomes, Human, Pair 1, GenBank, Human genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9720da648a619c524129b3c2c79110e3Test
https://pubmed.ncbi.nlm.nih.gov/11951180Test