المؤلفون: Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet

المصدر: PLoS ONE, Vol 8, Iss 5, p e62519 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23671607/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/be655f622d9a471dba04553323858f20

المؤلفون: Raquel M. Fernández, Aravinda Chakravarti, Francesca Lantieri, Salud Borrego, Joke B. G. M. Verheij, Françoise Clerget-Darpoux, Stanislas Lyonnet, Isabella Ceccherini, Anna Pelet, Arnold Munnich, Paul K.H. Tam, Robert M.W. Hofstra, Stacey Arnold, Merce Garcia-Barcelo, Jeanne Amiel, Anne-Sophie Jannot

المساهمون: Clinical Genetics

المصدر: European Journal of Human Genetics, 20(9), 917-920. Nature Publishing Group

مصطلحات موضوعية: Male, EXPRESSION, Non-Mendelian inheritance, Mutation rate, Hirschsprung disease, Parenteral transmission, Inheritance Patterns, Penetrance, reproductive rate, Biology, parental transmission asymmetry, INHERITANCE, Article, 4 POPULATIONS, Open Reading Frames, Sex Factors, Mutation Carrier, SDG 3 - Good Health and Well-being, Gene Frequency, Mutation Rate, Genetics, Humans, SEGREGATION, Allele, Allele frequency, COMMON, Genetics (clinical), Alleles, RET MUTATIONS, RISK, Reproduction, Siblings, Proto-Oncogene Proteins c-ret, Pedigree, TRIOS, TISSUE, Mutation (genetic algorithm), Female, SEX, parent-of-origin effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73094e64e39ac4adf47ae9ea563d2655
https://doi.org/10.1038/ejhg.2012.35

المؤلفون: Jeanne Amiel, Robert M.W. Hofstra, Isabella Ceccherini, Aravinda Chakravarti, Stacey Arnold, Anna Pelet, Salud Borrego, Paul K.H. Tam, Stephanie L. Sherman, Stanislas Lyonnet

المصدر: Human Mutation, 30(5), 771-775. Wiley

مصطلحات موضوعية: Down syndrome, Hirschsprung disease, Chromosomes, Human, Pair 21, complex disorder, Population, gene dosage, Biology, Gene dosage, Polymorphism, Single Nucleotide, Article, Nondisjunction, Genetic, Genetics, medicine, Humans, education, Allele frequency, Genetics (clinical), RISK, education.field_of_study, Chromosomes, Human, Pair 10, Proto-Oncogene Proteins c-ret, Chromosome, medicine.disease, Molecular biology, Enhancer Elements, Genetic, Nondisjunction, Case-Control Studies, MAP, Chromosome 21, RET, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c05ee3b2bf19689536abaf48ce6edae
https://research.rug.nl/en/publications/05cb80c9-564e-482d-8dd8-5bfbcb6cd036

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 PRESS

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd2d4cf6a8b58b92cd0ab303717bf29
https://pure.eur.nl/en/publications/c46aadce-e454-4bda-9baf-da43fde81518

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. BMC

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62bdb968b19826299f9c065dae8a4d7
https://doi.org/10.1186/1750-1172-8-187

المؤلفون: Aravinda Chakravarti, Nadege Bondurand, Asma Chaoui, Anna Pelet, Françoise Clerget-Darpoux, Salud Borrego, Marine Masse-Morel, Isabella Ceccherini, Alexandra Henrion-Caude, Robert M.W. Hofstra, Stacey Arnold, Stanislas Lyonnet, D Sanlaville, Arnold Munnich, Jeanne Amiel, Anne-Sophie Jannot

المساهمون: Telethon, Ubbo Emmius Foundation, Netherlands Organization for Scientific Research, Junta de Andalucía, Instituto de Salud Carlos III, Jérôme Lejeune Foundation, Fondation pour la Recherche Médicale, Agence Nationale de la Recherche (France), National Institutes of Health (US), Clinical Genetics

المصدر: PLoS ONE
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS One (print), 8(5). Public Library of Science
PLoS ONE, Vol 8, Iss 5, p e62519 (2013)

مصطلحات موضوعية: Genetic Screens, Chromosomes, Human, Pair 21, Genetic Networks, Bioinformatics, Connexins, Chromosomal Disorders, 0302 clinical medicine, Mathematics::Probability, Gene Regulatory Networks, Genetics, 0303 health sciences, Multidisciplinary, Genomics, 3. Good health, Medicine, Pediatric Gastroenterology, Astrophysics::Earth and Planetary Astrophysics, Research Article, Protein Binding, Statistics::Theory, Down syndrome, medicine.medical_specialty, Mathematics::General Mathematics, Science, Computer Science::Neural and Evolutionary Computation, SOX10, Locus (genetics), Single-nucleotide polymorphism, Gastroenterology and Hepatology, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, DSCAM, Genome Analysis Tools, Molecular genetics, medicine, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Hirschsprung Disease, Allele, Gene Networks, Genetic Association Studies, 030304 developmental biology, Clinical Genetics, Binding Sites, Computational Biology, Human Genetics, medicine.disease, Genetic Loci, Genetic Polymorphism, Down Syndrome, Chromosome 21, Cell Adhesion Molecules, 030217 neurology & neurosurgery, Population Genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f7918eee3df2af9340cd8260fc1c68
http://europepmc.org/articles/PMC3646051

المؤلفون: Maria X. Sosa, Qian Jiang, Tychele N. Turner, Ankit Rakha, Stacey Arnold, Aravinda Chakravarti

مصطلحات موضوعية: Male, Heterozygote, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Semaphorins, Biology, Polymerase Chain Reaction, Article, law.invention, Exon, law, Genetics, Missense mutation, Humans, Hirschsprung Disease, Allele, Gene, Genetics (clinical), Polymerase chain reaction, Alleles, Base Sequence, High-Throughput Nucleotide Sequencing, DNA, Exons, Amplicon, DNA sequencer, Case-Control Studies, Female, Chromosomes, Human, Pair 7

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53634b43c74049da4c9716d88bcc6fd9
https://europepmc.org/articles/PMC3240684/

المؤلفون: Santosh Menon, Maureen Corl, Mindy Brewer, Ken Bertke, Heather Overbeck, Kim Barrows, Stacey Arnold, Tracy Preidt, Amy Dadosky, Natasha Hiles, Tashua Woods-Stroup, Eugene Chung, Kathleen A. Daly

المصدر: Journal of Cardiac Failure. 21:S131

مصطلحات موضوعية: business.industry, Heart failure, Nursing facility, medicine, In patient, Medical emergency, Cardiology and Cardiovascular Medicine, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6fcb1abffd8f07ad10269b91e2c10689
https://doi.org/10.1016/j.cardfail.2015.06.375

المؤلفون: M. Stacey Arnold, Randal J. Kaufman

مصطلحات موضوعية: Signal peptide, Cytosol, Biochemistry, Cytoplasm, Protein biosynthesis, Secretion, Mitochondrion, Biology, Peroxisome, Secretory pathway

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fda130585404e7d01427225b97218c9f
https://doi.org/10.1016/s0167-7306(03)38025-1

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