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المؤلفون: Raquel M. Fernández, Seneca L. Bessling, Grzegorz M. Burzynski, Albee Y. Ling, Salud Borrego, Isabella Ceccherini, Andrew S. McCallion, Aravinda Chakravarti, Moltu Guy, Robert M.W. Hofstra, Qian Jiang, Stacey Arnold, Jeffrey J. Gray, Jeanne Amiel, Krishna Praneeth Kilambi, Maria X. Sosa, Vassilis Pachnis, Betty Q. Doan, Ashish Kapoor, Stanislas Lyonnet, Qingguang Jiang, Tiffany A. Heanue, Kristen West, Joke B. G. M. Verheij, Paola Griseri
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 96(4), 581-596. Cell Press
American Journal of Human Genetics, 96(4), 581-596. CELL PRESSمصطلحات موضوعية: EXPRESSION, MIGRATION, Cellular differentiation, Molecular Sequence Data, TYROSINE KINASE, Genome-wide association study, Semaphorins, Article, ENHANCER, Mice, ENTERIC NERVOUS-SYSTEM, Semaphorin, Genetics, Neuropilin, Animals, Genetics(clinical), Genetic Predisposition to Disease, Hirschsprung Disease, CELL, GENOME-WIDE ASSOCIATION, COMMON, Genetics (clinical), Loss function, Base Sequence, RECEPTOR, biology, Proto-Oncogene Proteins c-ret, Plexin, Genetic Variation, Epistasis, Genetic, SEMA3A, Sequence Analysis, DNA, MARKER, biology.protein, Genome-Wide Association Study
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المؤلفون: Robert C. Elston, E. Warwick Daw, Betty Q. Doan
المصدر: Genetic Epidemiology. 29:S29-S34
مصطلحات موضوعية: Linkage (software), Genetics, Genotype, Epidemiology, Chromosome Mapping, Single-nucleotide polymorphism, Regression analysis, Computational biology, Tag SNP, Biology, Disease gene identification, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Alcoholism, Genetics, Population, Phenotype, Gene Frequency, Genetic linkage, Humans, SNP, Microsatellite, Genetic Predisposition to Disease, Genetics (clinical), Microsatellite Repeats
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3An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21
المؤلفون: Elizabeth W. Pugh, Susan E. Hong, Rachel Straussberg, Christopher A. Walsh, Lina Basel-Vanagaite, P. Ellen Grant, Yin Yao Shugart, Kim Doheny, Xianhua Piao, Betty Q. Doan
المصدر: The American Journal of Human Genetics. 70:1028-1033
مصطلحات موضوعية: Male, Adolescent, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Nervous System Malformations, Identity by descent, Bilateral frontoparietal polymicrogyria, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Parietal Lobe, Report, Genetics, Polymicrogyria, medicine, Humans, Pakistan, Genetics(clinical), Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Haplotype, Infant, Newborn, Chromosome Mapping, Infant, medicine.disease, Magnetic Resonance Imaging, Frontal Lobe, Pedigree, Haplotypes, Frontal lobe, Child, Preschool, Female, Lod Score, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
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المؤلفون: Stanislas Lyonnet, Joaquín Dopazo, Francesca Lantieri, Claude Besmond, Raquel M. Fernández, Guillermo Antiñolo, Marta Bleda, Berta Luzón-Toro, Robert M.W. Hofstra, Stacey Arnold, Isabella Ceccherini, Yunia Sribudiani, Luz Garcia-Alonso, Aravinda Chakravarti, Salud Borrego, Betty Q. Doan
المساهمون: Department of Genetics, Reproduction and Fetal Medicine, Universidad de Sevilla-Institute of Biomedicine of Seville (IBIS)-Hospital Universitario Virgen del Rocío [Sevilla], Centre for Biomedical Network Research on Rare Diseases (CIBERER), Department of Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Center for Complex Disease Genomics, Johns Hopkins University School of Medicine-McKusick-Nathans Institute of Genetic Medicine, Department of Medical Genetics, University of Groningen [Groningen], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratorio di Genetica Molecolare, Istituto Gaslini, Functional Genomics Node (INB), This work was supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness, Spain (PI1001290), Spanish Ministry of Economy and Competitiveness (BIO2011-27069), GVA-FEDER (PROMETEO/2010/001) and Consejeria de Innovación Ciencia y Empresa de la Junta de Andalucia (CTS-7447). The CIBER de Enfermedades Raras is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness. LG-A is supported by fellowship PFIS FI10/00020 from the ISCIII., BMC, Ed., Universidad de Sevilla / University of Sevilla-Institute of Biomedicine of Seville (IBIS)-Hospital Universitario Virgen del Rocío [Sevilla], Universidad de Sevilla. Departamento de Cirugía, Universidad de Sevilla-Hospital Universitario Virgen del Rocío [Sevilla]-Institute of Biomedicine of Seville (IBIS), Universidad de Sevilla-University Hospital Virgen del Rocio-Institute of Biomedicine of Seville (IBIS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CIPF
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Orphanet Journal of Rare Diseases
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.187. ⟨10.1186/1750-1172-8-187⟩
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.187. ⟨10.1186/1750-1172-8-187⟩
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
idUS. Depósito de Investigación de la Universidad de Sevilla
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.187. 〈10.1186/1750-1172-8-187〉
Orphanet journal of rare diseases, 8:187. BMCمصطلحات موضوعية: Male, genetics/metabolism, Genome-wide association study, Disease, [SDV.GEN] Life Sciences [q-bio]/Genetics, VARIANTS, 0302 clinical medicine, Polymorphism (computer science), Genotype, Genetics(clinical), Pharmacology (medical), genetics, SUSCEPTIBILITY LOCUS, Hirschsprung's disease, Genetics (clinical), Genetics, Medicine(all), RISK, 0303 health sciences, Pathway-Based Analysis, General Medicine, Single Nucleotide, 3. Good health, Hirschsprung’s disease, Female, Genetic Predisposition to Disease, Genotype, Hirschsprung Disease, genetics/metabolism, Humans, Male, Polymorphism, Female, SET, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, PROTEIN-INTERACTION NETWORK, medicine, Humans, Genetic Predisposition to Disease, Hirschsprung Disease, Polymorphism, GENOME-WIDE ASSOCIATION, Gene, COMMON, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Research, medicine.disease, GENE, Human genetics, DNA binding site, MODEL, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, RET, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Dennis Drayna, Kimberly F. Doheny, Jennifer Mundorff, Jacqueline Wanyee, Yin Yao Shugart, Betty Q. Doan, James Kilshaw, Eric D. Green
المصدر: American Journal of Medical Genetics. :133-135
مصطلحات موضوعية: Male, Stuttering, Population, Locus (genetics), Biology, GNPTG, Genetic determinism, Genetic linkage, Chromosome 18, medicine, Humans, Genetic Predisposition to Disease, education, Genetics (clinical), Family Health, Genetics, education.field_of_study, Genome, Human, Proximal 18q, Chromosome Mapping, medicine.disease, Europe, North America, Female, Lod Score, medicine.symptom, Chromosomes, Human, Pair 18, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3573f1ce2d96d458512f1bdaebd8d1d0
https://doi.org/10.1002/ajmg.a.20347 -
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المؤلفون: Wendy Post, Josef Coresh, W. H. Linda Kao, Eric Boerwinkle, Dan E. Arking, Aravinda Chakravarti, Bruce M. Psaty, Ronald J. Prineas, Peter M. Spooner, Eduardo Marbán, David S. Siscovick, Betty Q. Doan, Nona Sotoodehnia, Thomas D. Rea, Bryan Bishé, Gordon F. Tomaselli, Gregory L. Burke
المصدر: Circulation. 119(7)
مصطلحات موضوعية: Heart disease, Genotype, Population, Bioinformatics, Sudden death, QT interval, Polymorphism, Single Nucleotide, White People, Article, Sudden cardiac death, Nitric oxide, chemistry.chemical_compound, Electrocardiography, NOS1AP, Risk Factors, Physiology (medical), medicine, Humans, education, Adaptor Proteins, Signal Transducing, Aged, Genetics, education.field_of_study, biology, business.industry, Middle Aged, medicine.disease, Nitric oxide synthase, Death, Sudden, Cardiac, chemistry, biology.protein, Cardiology and Cardiovascular Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9baf8bea5e340a5b13f980ddc404451e
https://pubmed.ncbi.nlm.nih.gov/19204306 -
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المؤلفون: Betty Q. Doan, Constantine Frangakis, Alexa J.M. Sorant, Yin Yao Shugart, Joan E. Bailey-Wilson
المصدر: European journal of human genetics : EJHG. 14(9)
مصطلحات موضوعية: Linkage (software), Models, Genetic, Genetic Linkage, Nonparametric statistics, Genetic Heterogeneity, Sample size determination, Causal inference, Sample Size, Statistics, Propensity score matching, Covariate, Genetics, Humans, Genetics (clinical), Statistic, Algorithms, Type I and type II errors, Mathematics
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المؤلفون: Rasika A. Mathias, Claudia Specchia, Betty Q. Doan, Hui Hua Li, Yin Yao Shugart, Marcella Devoto
المصدر: Scopus-Elsevier
مصطلحات موضوعية: 0301 basic medicine, Adult, Genetic Markers, Male, Epidemiology, 030105 genetics & heredity, Quantitative trait locus, Biology, Genetic analysis, 03 medical and health sciences, Chromosome 16, Quantitative Trait, Heritable, Gene Frequency, Humans, Child, Genetics (clinical), Linkage (software), Genetics, Likelihood Functions, Nonparametric statistics, Chromosome Mapping, Western Australia, Immunoglobulin E, Sib pairs, Asthma, Data set, 030104 developmental biology, Genetics, Population, Phenotype, Microsatellite, Female, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64bbc853cda7b1988aa6d251bda3a0f
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034797722&partnerID=MN8TOARS -
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المصدر: BMC Genetics, Vol 6, Iss Suppl 1, p S33 (2005)
BMC Geneticsمصطلحات موضوعية: lcsh:QH426-470, Genetic Linkage, Biology, Logistic regression, Statistical power, 03 medical and health sciences, Covariate, Odds Ratio, Genetics, Humans, Genetics(clinical), Cooperative Behavior, Propensity Score, Genetics (clinical), 030304 developmental biology, Linkage (software), 0303 health sciences, 030305 genetics & heredity, Nonparametric statistics, Chromosome Mapping, Regression analysis, Alcoholism, lcsh:Genetics, Proceedings, Propensity score matching, Regression Analysis, Microsatellite Repeats, Type I and type II errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f01b1d17efa3b4a6804d476f9fc80292
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المؤلفون: Priya Duggal, Joan E. Bailey-Wilson, Betty Q. Doan, Yoonhee Kim
المصدر: BMC Proceedings, Vol 1, Iss Suppl 1, p S152 (2007)
BMC Proceedingsمصطلحات موضوعية: Genetics, Normalization (statistics), Microarray analysis techniques, lcsh:R, lcsh:Medicine, Pedigree chart, General Medicine, Heritability, Biology, Genetic analysis, General Biochemistry, Genetics and Molecular Biology, Proceedings, Genetic linkage, Genetic marker, Genetic variation, lcsh:Q, lcsh:Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9b492f6f7326026a647daa5b63e617
Find this article in full text from Springer Verlag.