المؤلفون: Hamby Stephen E, Thomas Nick ST, Cooper David N, Chuzhanova Nadia

المصدر: Human Genomics, Vol 5, Iss 4, Pp 241-264 (2011)

مصطلحات موضوعية: human inherited disease, stop codon, 3'-untranslated region, nonstop mutation, nonstop mRNA decay, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/5/4/241; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/a1456fb17bcc43f19c08709acd1459d3

المؤلفون: Jian-Min Chen, David N. Cooper, Claude Férec

المصدر: Genes, Vol 1, Iss 3, Pp 550-563 (2010)

مصطلحات موضوعية: gene conversion mutation, homologous recombination, human inherited disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2073-4425/1/3/550/; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/9681e66eef7846b3ba4ebfc0306cfc75

المؤلفون: Cooper David N, Mort Matthew, Stenson Peter D, Ball Edward V, Chuzhanova Nadia A

المصدر: Human Genomics, Vol 4, Iss 6, Pp 406-410 (2010)

مصطلحات موضوعية: CpG dinucleotide, CpNpGp trinucleotide, cytosine methylation, 5-methylcytosine deamination, mutation hot-spots, human inherited disease, missense/nonsense mutations, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.humgenomics.com/content/4/6/406; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/539a2c7f315743bda3956f7c2fc07a93

المؤلفون: Chuzhanova, Nadia, Cooper, David N., Férec, Claude, Chen, Jian-Min

المصدر: Genomic Medicine: Official Journal of the Human Genome Organisation. September 2007 1(1-2):29-33

المؤلفون: Matthew Mort, Gérald Le Gac, Jin-Huan Lin, Shun-Jiang Deng, Chandran Ka, David N. Cooper, Wen-Bin Zou, Yann Fichou, Arnaud Boulling, Emmanuelle Masson, Jian-Min Chen, Isabelle Berlivet, Matthew J. Hayden, Zhuan Liao, Xin-Ying Tang, Loann Raud, Raphaël Leman, Marlène Le Tertre, Zhao-Shen Li, Claude Férec, Claude Houdayer

المساهمون: INSERM U1078, Université de Brest (UBO), Etablissement Français du Sang Bretagne, EFS, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Medical Genetics, College of Medicine, Cardiff University, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Institute of Medical Genetics, Cardiff University-School of Medicine, Shanghai Institute of Pancreatic Diseases, Shanghai, China, Shanghai Institute of Pancreatic Diseases, BOULLING, Arnaud, EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Second Military Medical University [Shanghai], Shanghai Institute of Pancreatic Diseases [Shanghai, China], Hôpital Morvan - CHRU de Brest (CHU - BREST ), Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge (Labex Gr-Ex), Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)

المصدر: Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩

مصطلحات موضوعية: full-length gene splicing assay, [SDV]Life Sciences [q-bio], Gene splicing, human inherited disease, noncanonical splice donor site, canonical 5′ splice site, Biology, genotype and phenotype relationship, 03 medical and health sciences, Human disease, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, Humans, Position-Specific Scoring Matrices, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Nucleotide Motifs, Clinical phenotype, Gene, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Base Sequence, Gene Expression Profiling, 030305 genetics & heredity, Wild type, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, Introns, [SDV] Life Sciences [q-bio], Alternative Splicing, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cell culture, RNA splicing, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], RNA Splice Sites, Databases, Nucleic Acid, human gene mutation database, Small nuclear RNA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fc6fdcd950314e38c8b1e213f1124
https://hal.inrae.fr/hal-02947010

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المؤلفون: Jorge Frank, Maaike Vreeburg, Ruud G. L. Nellen, Maurice A.M. van Steensel, Michel van Geel, P.M. Steijlen

المساهمون: Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (3), MUMC+: MA AIOS Dermatologie (9), MUMC+: MA Dermatologie (9), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Human Mutation, 38(4), 343-356. Wiley

مصطلحات موضوعية: 0301 basic medicine, RETICULUM CA2+-ATPASE MUTANTS, Intracellular Space, Disease, computer.software_genre, medicine.disease_cause, 030207 dermatology & venereal diseases, 0302 clinical medicine, Darier Disease, Databases, Genetic, Missense mutation, CHINESE PATIENTS, Genetics (clinical), Skin, Mutation, CA2+ PUMP, Database, HUMAN INHERITED DISEASE, ATP2C1, 3. Good health, Hailey–Hailey disease, acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis, Pemphigus, Benign Familial, Hailey-Hailey disease, SPCA1, NEUROPSYCHIATRIC ASPECTS, Calcium-Transporting ATPases, Biology, genotype-phenotype correlation, Sarcoplasmic Reticulum Calcium-Transporting ATPases, 03 medical and health sciences, locus-specific database, MISSENSE MUTATION, ATP2A2, Genetics, medicine, Humans, ACROKERATOSIS VERRUCIFORMIS, Darier disease, CLINICAL-FEATURES, medicine.disease, ISRAEL COMBINED EVALUATION, CULTURED KERATINOCYTES, SERCA2, 030104 developmental biology, Calcium, Leiden Open Variation Database, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ba30977cc3543d31d529ab32970b1cc
https://cris.maastrichtuniversity.nl/en/publications/9cd50d6c-907f-4c50-9bce-043c13e5b05c

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المؤلفون: David Neil Cooper, Jian-Min Chen, Claude Férec

المصدر: Genes
Genes, Vol 1, Iss 3, Pp 550-563 (2010)

مصطلحات موضوعية: Genetics, Concerted evolution, lcsh:QH426-470, human inherited disease, homologous recombination, Disease, Review, Biology, DNA sequencing, lcsh:Genetics, Homologous chromosome, Human genome, Gene conversion, gene conversion mutation, Homologous recombination, QH426, Genetics (clinical), Sequence (medicine)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::696e3a7d4b537ad282e94d33d235c2f4

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