نتائج البحث - "genomic disorders"

1

Clinical significance of de novo and inherited copy-number variation

المؤلفون: R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers

المصدر: Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, endocrine system diseases, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Intellectual Disability, Human Phenotype Ontology, mental disorders, Genetics, SNP, Humans, Clinical significance, Abnormalities, Multiple, Copy-number variation, Child, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Chromosome Mapping, Computational Biology, Phenotype, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Severe phenotype, Child, Preschool, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3Test

2

Diagnostic interpretation of array data using public databases and internet sources

المؤلفون: Morris A. Swertz, Trijnie Dijkhuizen, Steven Van Vooren, Soheil Shams, Nicole de Leeuw, David H. Ledbetter, Rolf H. Sijmons, Ros Hastings, Robert M. Kuhn, Steven W. Scherer, Helen V. Firth, Lars Feuk, Conny M. A. van Ravenswaaij-Arts, Christa Lese Martin, Nigel P. Carter, Jayne Y. Hehir-Kwa

المساهمون: Science in Healthy Ageing & healthcaRE (SHARE), Ethical, Legal, Social Issues in Genetics (ELSI), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE)

المصدر: Human Mutation, 33, pp. 930-940
Human Mutation, 33, 930-940
Human Mutation, 33(6), 930-940. Wiley

مصطلحات موضوعية: DNA Copy Number Variations, CNV, data interpretation, diagnostic, array, VARIANTS, Biology, computer.software_genre, Polymorphism, Single Nucleotide, Article, Structural variation, Software, Databases, Genetic, Human Phenotype Ontology, Genetics, Humans, HUMAN GENOME, Analysis software, database, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Internet, Database, Diagnostic Tests, Routine, Genome, Human, business.industry, Interpretation (philosophy), Genetic Variation, Data interpretation, genome wide, Search Engine, STRUCTURAL VARIATION, COPY NUMBER, classification, The Internet, HUMAN PHENOTYPE ONTOLOGY, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], computer, Host (network)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56d66ac23cdc5a5c81fc8daf6a09895cTest
https://hdl.handle.net/2066/110887Test

3

Genome-wide arrays in routine diagnostics of hematological malignancies

المؤلفون: Rosalind J. Hastings, Nicole de Leeuw, Jacqueline Schoumans, Nicole Claudia Konrad, Annet Simons, Birgit Sikkema-Raddatz

المصدر: Human Mutation, 33, 941-8
Human Mutation, 33, 6, pp. 941-8

مصطلحات موضوعية: medicine.medical_specialty, DNA Copy Number Variations, Microarray, Population, PROGNOSTIC RELEVANCE, molecular karyotyping, copy-number aberrations, Biology, UNIPARENTAL DISOMY, Bioinformatics, Polymorphism, Single Nucleotide, Translocation, Genetic, MULTIPLE-MYELOMA, REVEALS, diagnostics, MYELODYSPLASTIC SYNDROMES, Genetics, medicine, Humans, hematological malignancies, SNP MICROARRAY, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], education, Genetics (clinical), ACUTE LYMPHOBLASTIC-LEUKEMIA, Comparative Genomic Hybridization, education.field_of_study, medicine.diagnostic_test, CHRONIC LYMPHOCYTIC-LEUKEMIA, Cytogenetics, medicine.disease, CYTOGENETICS, aUPD, Uniparental disomy, CNLOH, Hematologic Neoplasms, array-CGH, COPY-NUMBER ALTERATIONS, DNA microarray, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], SNP array, Fluorescence in situ hybridization, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b8a53437c253c27900b437283d1855Test
https://doi.org/10.1002/humu.22057Test

4

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

المساهمون: Netherlands Institute for Neuroscience (NIN), Human Genetics, Paediatric Genetics

المصدر: Human Mutation, 32, 1398-406
Human Mutation, 32, 12, pp. 1398-406
Human Mutation, 32, 1398-1406. Wiley-Liss Inc.
Human mutation, 32(12), 1398-1406. Wiley-Liss Inc.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df763a80d9dae49ef071fea29be74430Test
https://hdl.handle.net/2066/98568Test

5

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

المؤلفون: Michel I.M. Versteegh, Marietta Swart-van den Berg, Ben C.J. Hamel, Marieke J.H. Baars, Arthur J.H.A. Scholte, Wilhelmina S. Kerstjens-Frederikse, Jacques C. Giltay, Martijn H. Breuning, Iris van der Schoot-van Velzen, Hans-Joachim Schäbitz, Yvonne Hilhorst-Hofstee, Gerard Pals, Marry E.B. Rijlaarsdam, Emilia K. Bijlsma

المساهمون: Human Genetics

المصدر: Human Mutation, 31, 12, pp. E915-27
Human mutation, 31(12), E1915-E1927. Wiley-Liss Inc.
Human Mutation, 31(12), E1915-E1927. Wiley
Human Mutation
Human Mutation, 31, E915-27

مصطلحات موضوعية: Male, Models, Molecular, Marfan syndrome, PHENOTYPE, medicine.disease_cause, Aspartic acid, Missense mutation, HOMOZYGOSITY, Child, fibrillin-1, Genetics (clinical), Genetics, Mutation, FBN1 gene, pathogenesis, Microfilament Proteins, autosomal recessive inheritance, Middle Aged, Phenotype, MARFAN-SYNDROME, Pedigree, TGF-BETA ACTIVATION, CALCIUM-BINDING, Female, Haploinsufficiency, Functional Neurogenomics [DCN 2], Fibrillin, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Mutation, Missense, Mutation in Brief, Genes, Recessive, Biology, Fibrillins, EPIDERMAL GROWTH-FACTOR, Genomic disorders and inherited multi-system disorders [IGMD 3], Structure-Activity Relationship, Young Adult, medicine, Humans, Family, Gene, Aspartic Acid, Epidermal Growth Factor, IDENTIFICATION, Infant, medicine.disease, GENE, Molecular biology, Protein Structure, Tertiary, Amino Acid Substitution, FBN1 MUTATIONS

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a8155c35b54fd38c666558d2acaba4Test
https://doi.org/10.1002/humu.21372Test

6

Massively parallel sequencing of ataxia genes after array-based enrichment

المؤلفون: Hoischen, A., Gilissen, C.F.H.A., Arts, P.J.W., Wieskamp, N.A.W., Vliet, W. van der, Vermeer, S., Steehouwer, M., Vries, P.F. de, Meijer, R., Seiqueros, J., Knoers, N.V.A.M., Buckley, M.F., Scheffer, H., Veltman, J.A.

المصدر: Human Mutation, 31, 4, pp. 494-9
Human Mutation, 31, 494-9

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09ba2dada3c13bccea6334d499281a08Test
https://hdl.handle.net/2066/87530Test

7

PORCN mutations in focal dermal hypoplasia: coping with lethality

المساهمون: Bornholdt, D, Oeffner, F, König, A, Happle, R, Alanay, Y, Ascherman, J, Benke, PJ, Boente Mdel C, van der Burgt I, Chassaing, N, Ellis, I, Francisco, CR, Della Giovanna P, Hamel, B, Has, C, Heinelt, K, Janecke, A, Kastrup, W, Loeys, B, Lohrisch, I, Marcelis, C, Mehraein, Y, Nicolas, ME, Pagliarini, D, Paradisi, M, Patrizi, A, Piccione, M, Piza-Katzer, H, Prager, B, Prescott, K, Strien, J, Utine, GE, Zeller, MS, Grzeschik, KH, Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Chassaing N, Ellis I, Francisco CR, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH

المصدر: Human Mutation, 30, 5, pp. E618-28
Human Mutation, 30, E618-28