نتائج البحث - "genomic disorders"

1

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

المؤلفون: Ernie M.H.F. Bongers, Rolph Pfundt, Marjolijn C.J. Jongmans, Eugène T P Verwiel, Koen L.I. van Gassen, Eveline J. Kamping, Yvonne F. Heijdra, Roland P. Kuiper, Frank N. van Leeuwen, Nicoline Hoogerbrugge, Ad Geurts van Kessel, Tom Vulliamy, Jayne Y. Hehir-Kwa, Marjolijn J L Ligtenberg, Liesbeth van Emst, Inderjeet Dokal

المصدر: American Journal of Human Genetics, 90, 426-33
American Journal of Human Genetics, 90, 3, pp. 426-33

مصطلحات موضوعية: Male, Telomerase, Germline, Cohort Studies, Genetics(clinical), Child, Genetics (clinical), Renal disorder [IGMD 9], Genetics, Recombination, Genetic, Mosaicism, Homozygote, Middle Aged, Age-related aspects of cancer Immune Regulation [ONCOL 2], Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Child, Preschool, Female, Adult, Mitotic crossover, Adolescent, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Mitosis, Biology, Polymorphism, Single Nucleotide, Dyskeratosis Congenita, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Telomerase RNA component, Young Adult, Germline mutation, Translational research [ONCOL 3], medicine, Humans, Cell Lineage, Allele, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Alleles, Germ-Line Mutation, Aged, Hereditary cancer and cancer-related syndromes [ONCOL 1], Chromosome, Sequence Analysis, DNA, medicine.disease, Molecular biology, RNA, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Dyskeratosis congenita

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f601ddb4f5674f953d3c22b0ecc29Test

2

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

المصدر: The American Journal of Human Genetics; Vol 90
American Journal of Human Genetics, 90, 102-9
American Journal of Human Genetics, 90, 1, pp. 102-9

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Retinal Pigment Epithelium, Biology, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Exon, Consanguinity, 0302 clinical medicine, Bardet–Biedl syndrome, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Report, Retinitis pigmentosa, Retinal Dystrophies, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Age of Onset, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Retinal pigment epithelium, Base Sequence, Chromosome Mapping, Infant, Proteins, Exons, medicine.disease, Disease gene identification, Introns, medicine.anatomical_structure, Evaluation of complex medical interventions [NCEBP 2], Child, Preschool, Mutation, 030221 ophthalmology & optometry, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0330fc97286bbd571e86c34d8f3906Test

3

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

المؤلفون: Connie A. Myers, Ron Bose, Carel B. Hoyng, Avigail Beryozkin, Joseph C. Corbo, B. Jeroen Klevering, Frans P.M. Cremers, Wei Shen, Anneke I. den Hollander, Rıza Köksal Özgül, Eyal Banin, Rob W.J. Collin, L. Ingeborgh van den Born, Marijke N. Zonneveld, Anna M. Siemiatkowska, Didem Yücel, Dror Sharon

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: American Journal of Human Genetics, 89, 253-64
American Journal of Human Genetics, 89, 2, pp. 253-64

مصطلحات موضوعية: Adult, Male, Rhodopsin, Candidate gene, Transcription, Genetic, Genetics and epigenetic pathways of disease [NCMLS 6], Molecular Sequence Data, Nonsense mutation, Genes, Recessive, Protein Serine-Threonine Kinases, Regulatory Sequences, Nucleic Acid, Biology, medicine.disease_cause, Article, Mice, Young Adult, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Cilia, Kinase activity, Exome, Genetics (clinical), Exome sequencing, Genetics & Heredity, Homeodomain Proteins, Mutation, Genetic heterogeneity, Chromosome Mapping, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Genetic Loci, Trans-Activators, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Retinitis Pigmentosa, Photoreceptor Cells, Vertebrate

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22f5cbf812e880ac4cc79f09be56cacTest
https://doi.org/10.1016/j.ajhg.2011.07.005Test

4

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

المؤلفون: Anan H Abbasi, Rob W.J. Collin, Christine Safieh, Frans P.M. Cremers, Stavit A. Shalev, B. Jeroen Klevering, Leah Rizel, Karin W. Littink, Tamar Ben-Yosef, Anneke I. den Hollander, Hanna J. Garzozi

المصدر: American Journal of Human Genetics, 86, 783-8
American Journal of Human Genetics, 86, 5, pp. 783-8

مصطلحات موضوعية: Retinal degeneration, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, DNA Mutational Analysis, Nonsense mutation, Mutation, Missense, Optic disk, Biology, medicine.disease_cause, Retina, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Report, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Eye Proteins, Genetics (clinical), Mutation, Reverse Transcriptase Polymerase Chain Reaction, Homozygote, Haplotype, Chromosome Mapping, Proteins, Disease gene identification, medicine.disease, Molecular biology, Haplotypes, Evaluation of complex medical interventions [NCEBP 2], Retinitis Pigmentosa, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6385674e153daa7e499a15e220e04c1eTest
https://doi.org/10.1016/j.ajhg.2010.03.016Test

5

On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls

المؤلفون: Alexandre A. Todorov, Eric Mick, Sungho Won, Benjamin M. Neale, Joseph Biederman, Scott T. Weiss, Barbara Franke, Richard Anney, Jessica Lasky-Su, Christoph Lange, Susan L. Smalley, Stephen V. Faraone, Sandra K. Loo

المصدر: American Journal of Human Genetics, 86, 4, pp. 573-80
American Journal of Human Genetics, 86, 573-80

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bceb7cf71dd8f5ea38341bee09b726Test

6

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

المؤلفون: Carel B. Hoyng, Rob W.J. Collin, Karin W. Littink, Ellen A.W. Blokland, Tim M. Strom, Frans P.M. Cremers, Anneke I. den Hollander, L. Ingeborgh van den Born, Robert K. Koenekoop, B. Jeroen Klevering, Marijke N. Zonneveld

المصدر: American Journal of Human Genetics, 83, 594-603
American Journal of Human Genetics, 83, 5, pp. 594-603

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Exon, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Drosophila Proteins, Genetics(clinical), Frameshift Mutation, Genetics (clinical), Genetics, Homozygote, Chromosome Mapping, Exons, Disease gene identification, Pedigree, Codon, Nonsense, Chromosomes, Human, Pair 6, Drosophila, Female, Retinitis Pigmentosa, Drosophila Protein, Molecular Sequence Data, Nonsense mutation, Genes, Recessive, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Retinitis pigmentosa, Electroretinography, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Eye Proteins, Sequence Homology, Amino Acid, Siblings, medicine.disease, eye diseases, Protein Structure, Tertiary, genomic DNA, Amino Acid Substitution, Evaluation of complex medical interventions [NCEBP 2], Case-Control Studies, Mutation, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc55c3936a7c41dfbe2c26305040090Test
https://doi.org/10.1016/j.ajhg.2008.10.014Test

7

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

المؤلفون: Joanne L. Blum, Lutecia Pereira, Douglas F. Easton, Timothy R. Rebbeck, Frans B L Hogervorst, Javier Benítez, Fiona Douglas, Carol Chu, Susan Peock, Csilla Szabo, Fergus J. Couch, Brigitte Bressac-de Paillerets, Ute Hamann, Roni Milgrom, Maria A. Caligo, W. Hofmann, M. Barile, Patricia A. Ganz, Paolo Radice, Xiaoqing Chen, Radka Platte, Christian Sutter, Sylvie Mazoyer, Diana Eccles, Sue Healey, Corinne Capoulade, Amanda B. Spurdle, Violaine Bourdon, Jonathan Beesley, Gemma Llort, Alfons Meindl, Antonis Antoniou, Georgia Chenevix-Trench, Paolo Peterlongo, Olga M. Sinilnikova, Agnès Chompret, Claudine Isaacs, Ana Osorio, Claude Houdayer, Flavio Lejbkowicz, Susan L. Neuhausen, Peggy Manders, Mark H. Greene, Roger L. Milne, Gad Rennert, Henry T. Lynch, Eitan Friedman, Christoph Engel, Irene L. Andrulis, Gail E. Tomlinson, Rosalind A. Eeles, Dieter Niederacher, Marjolijn J L Ligtenberg, Hagay Sobol, Ofra Barnett-Griness, D. Gareth Evans, M. Cook, Gilbert M. Lenoir, Mary B. Daly, Hilmi Ozcelik, Ans M.W. van den Ouweland, François Eisinger, Beatrix Versmold, Bella Kaufman, Helmut Deissler, Trinidad Caldés, Rosemarie Davidson, Susan M. Domchek, Marion Gauthier-Villars, Gabriella Pichert, Dominique Stoppa-Lyonnet, Siranoush Manoukian, Andrew K. Godwin, Heli Nevanlinna, Norbert Arnold, Anne-Marie Gerdes, Olufunmilayo I. Olopade, Laure Barjhoux, Katherine L. Nathanson, Yael Laitman, Rita K. Schmutzler, Theresa Wagner, Jeffrey N. Weitzel, Karen A. Pooley, Kati Kämpjärvi, Jacques Simard

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 82(4), 937-948. Cell Press
American Journal of Human Genetics, 82, 937-48
American Journal of Human Genetics, 82, 4, pp. 937-48
Antoniou, A C, Spurdle, A B, Sinilnikova, O M, Healey, S, Pooley, K A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Hofmann, W, Sutter, C, Niederacher, D, Deissler, H, Caldes, T, Kämpjärvi, K, Nevanlinna, H, Simard, J, Beesley, J, Chen, X, for Research into Familial Breast Cancer, K C, Neuhausen, S L, Rebbeck, T R, Wagner, T, Lynch, H T, Isaacs, C, Weitzel, J, Ganz, P A, Daly, M B, Tomlinson, G, Olopade, O I, Blum, J L, Couch, F J, Peterlongo, P, Manoukian, S, Barile, M, Radice, P, Szabo, C I, Pereira, L H M, Greene, M H, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Group, OCGN, Gerdes, A-M, Caligo, M A, Laitman, Y, Kaufman, B, Milgrom, R, Friedman, E, study collaborators, S BRCA A BRCA, Domchek, S M, Nathanson, K L, Osorio, A, Llort, G, Milne, R L, Benítez, J, Hamann, U, Hogervorst, F B L, Manders, P, Ligtenberg, M J L, van den Ouweland, A M W, collaborators, DNA-HEBON, Peock, S, Cook, M, Platte, R, Evans, D G, Eeles, R, Pichert, G, Chu, C, Eccles, D, Davidson, R, Douglas, F, Group, EMBRACE, Godwin, A K, Barjhoux, L, Mazoyer, S, Sobol, H, Bourdon, V, Eisinger, F, Chompret, A, Capoulade, C, Bressac-de Paillerets, B, Lenoir, G M, Gauthier-Villars, M, Houdayer, C, Stoppa-Lyonnet, D, Group, GEMO, Chenevix-Trench, G, Easton, D F & Group, CIMBA 2008, ' Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', American Journal of Human Genetics, vol. 82, no. 4, pp. 937-48 . https://doi.org/10.1016/j.ajhg.2008.02.008Test

مصطلحات موضوعية: Adult, Risk, endocrine system diseases, Genetic counseling, Genes, BRCA2, Population, Genes, BRCA1, MAP Kinase Kinase Kinase 1, Breast Neoplasms, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics(clinical), Receptor, Fibroblast Growth Factor, Type 2, skin and connective tissue diseases, education, Germ-Line Mutation, Genetics (clinical), Aged, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], 030304 developmental biology, 0303 health sciences, education.field_of_study, Hereditary cancer and cancer-related syndromes [ONCOL 1], Cancer, Middle Aged, medicine.disease, 3. Good health, TOX3, 030220 oncology & carcinogenesis, Cancer research, Female, Breast disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd78a8955d67aa7636c6ee373892630Test
https://doi.org/10.1016/j.ajhg.2008.02.008Test

8

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

المؤلفون: David R. FitzPatrick, Kim Debacker, Dominique Smeets, R. Frank Kooy, Birgitta Winnepenninckx, Arie P. T. Smits, Jacqueline Ramsay

المصدر: American Journal of Human Genetics, 80, 221-31
Winnepenninckx, B, Debacker, K, Ramsay, J, Smeets, D, Smits, A, FitzPatrick, D R & Kooy, R F 2007, ' CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1 ', American Journal of Human Genetics, vol. 80, no. 2, pp. 221-31 . https://doi.org/10.1086/510800Test
American Journal of Human Genetics, 80, 2, pp. 221-31
The American journal of human genetics

مصطلحات موضوعية: Adult, Male, Untranslated region, Heterozygote, Ataxia, Adolescent, Molecular Sequence Data, Nerve Tissue Proteins, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Gene expression, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Gene, Genetics (clinical), Likelihood Functions, Chromosomes, Human, Pair 12, Base Sequence, Chromosome Fragile Sites, Chromosomal fragile site, DNA Methylation, Molecular biology, Pedigree, Protein Structure, Tertiary, Genetic defects of metabolism [UMCN 5.1], Chromosome Fragile Site, Child, Preschool, DNA methylation, Female, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0f45cf6c5384aae551c8073844c6b1Test
https://doi.org/10.1086/510800Test

9

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

المؤلفون: Bert van den Heuvel, Brigitte Welling, Gert Vriend, Eric A. Shoubridge, Orly Elpeleg, Jürgen Horst, Heleen Diepstra, Hana Antonicka, Florin Sasarman, Avraham Shaag, Jasmine Jacob-Hirsch, Paul Smits, Ann Saada, Gideon Rechavi, Richard J. Rodenburg, Jan A.M. Smeitink

المصدر: American Journal of Human Genetics, 79, 5, pp. 869-77
American Journal of Human Genetics, 79, 869-77

مصطلحات موضوعية: Chemical and physical biology [NCMLS 7], Models, Molecular, Mitochondrial DNA, Energy and redox metabolism [NCMLS 4], Bioinformatics, Mitochondrial translation, Molecular Sequence Data, Mutant, Peptide Elongation Factor Tu, Mitochondrion, Biology, Guanosine triphosphate, medicine.disease_cause, DNA, Mitochondrial, Oxidative Phosphorylation, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Proteins, chemistry.chemical_compound, Translational research [ONCOL 3], medicine, Genetics, Humans, Genetics(clinical), Amino Acid Sequence, Translation factor, Muscle, Skeletal, Gene, Cells, Cultured, Genetics (clinical), DNA Primers, Mutation, Base Sequence, Sequence Homology, Amino Acid, Fibroblasts, Peptide Elongation Factors, Mitochondria, Mitochondrial medicine [IGMD 8], Phenotype, Electron Transport Chain Complex Proteins, chemistry, Multiprotein Complexes, Cellular energy metabolism [UMCN 5.3]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a00ee9640b70bfeb12495b4f864f6e9fTest

10

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

المؤلفون: Amanda L. Collins, E.D. Cabanas, F. Lucy Raymond, Charles Shaw-Smith, Howard Martin, David R. FitzPatrick, Lesley Pindar, Michael Tettenborn, John C K Barber, James J. Cox, Erik A. Sistermans, Eddy Maher, Dian Donnai, Kate Walker, Bert B.A. de Vries, Lionel Willatt, Josep Parnau, Jacqueline Ramsay, Dorothy Trump

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: American Journal of Human Genetics, 77, 1, pp. 154-60
Willatt, L, Cox, J, Barber, J, Cabanas, E D, Collins, A, Donnai, D, FitzPatrick, D R, Maher, E, Martin, H, Parnau, J, Pindar, L, Ramsay, J, Shaw-Smith, C, Sistermans, E A, Tettenborn, M, Trump, D, De Vries, B B A, Walker, K & Raymond, F L 2005, ' 3q29 microdeletion syndrome : Clinical and molecular characterization of a new syndrome ', American journal of human genetics, vol. 77, no. 1, pp. 154-160 . https://doi.org/10.1086/431653Test
American journal of human genetics, 77(1), 154-160. Cell Press
American Journal of Human Genetics, 77, 154-60

مصطلحات موضوعية: Male, Monosomy, Microcephaly, Ligamentous laxity, 3q29 microdeletion syndrome, Non-allelic homologous recombination, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Intellectual Disability, Report, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), Short philtrum, Child, Genetics (clinical), 030304 developmental biology, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], 0303 health sciences, Chromosome Mapping, Infant, Syndrome, medicine.disease, Phenotype, Child, Preschool, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2cda3586a86eeb1818703677111228Test

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