يعرض 1 - 10 نتائج من 10 نتيجة بحث عن '"Meire, F."', وقت الاستعلام: 0.71s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

    المؤلفون: Coppieters, F., Ascari, G., Dannhausen, K., Nikopoulos, K., Peelman, F., Karlstetter, M., Xu, M., Brachet, C., Meunier, I., Tsilimbaris, M.K., Tsika, C., Blazaki, S.V., Vergult, S., Farinelli, P., Van Laethem, T., Bauwens, M., De Bruyne, M., Chen, R., Langmann, T., Sui, R., Meire, F., Rivolta, C., Hamel, C.P., Leroy, B.P., De Baere, E.

    المصدر: American journal of human genetics, vol. 99, no. 2, pp. 470-480

    مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Alleles, Child, Consanguinity, Cullin Proteins/metabolism, Exome/genetics, Female, Founder Effect, Genes, Recessive, Guanine Nucleotide Exchange Factors/genetics, Haplotypes/genetics, Homozygote, Humans, Lymphocytes/metabolism, Male, Mutation, Missense/genetics, NF-E2-Related Factor 2/metabolism, Pedigree, Phenotype, RNA, Messenger/genetics, Retina/metabolism, Retinal Dystrophies/genetics, Syndrome, Turkey, Ubiquitination/genetics

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27486781; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D94870497C067; https://serval.unil.ch/notice/serval:BIB_D94870497C06Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2016.06.017Test
    https://serval.unil.ch/notice/serval:BIB_D94870497C06Test
    https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test

    View record in BASE النص الكامل

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

    المؤلفون: Audo, I., Bujakowska, K., Orhan, E., Poloschek, C.M., Defoort-Dhellemmes, S., Drumare, I., Kohl, S., Luu, T.D., Lecompte, O., Zrenner, E., Lancelot, M.E., Antonio, A., Germain, A., Michiels, C., Audier, C., Letexier, M., Saraiva, J.P., Leroy, B.P., Munier, F.L., Mohand-Saïd, S., Lorenz, B., Friedburg, C., Preising, M., Kellner, U., Renner, A.B., Moskova-Doumanova, V., Berger, W., Wissinger, B., Hamel, C.P., Schorderet, D.F., De Baere, E., Sharon, D., Banin, E., Jacobson, S.G., Bonneau, D., Zanlonghi, X., Le Meur, G., Casteels, I., Koenekoop, R., Long, V.W., Meire, F., Prescott, K., de Ravel, T., Simmons, I., Nguyen, H., Dollfus, H., Poch, O., Léveillard, T., Nguyen-Ba-Charvet, K., Sahel, J.A., Bhattacharya, S.S., Zeitz, C.

    المصدر: American Journal of Human Genetics, vol. 90, no. 2, pp. 321-330

    مصطلحات موضوعية: Alleles, Animals, Electroretinography/methods, Exome, Female, Genetic Heterogeneity, Genotyping Techniques/methods, Heterozygote, Homozygote, Humans, Male, Mice, Mutation, Myopia/genetics, Night Blindness/genetics, Phenotype, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Proteoglycans/genetics, Receptors, G-Protein-Coupled/genetics, Metabotropic Glutamate/genetics, Retina/abnormalities, TRPM Cation Channels/genetics

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22325361; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_9A4CCAD20012Test; urn:issn:0002-9297

    الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.007Test
    https://serval.unil.ch/notice/serval:BIB_9A4CCAD20012Test

    View record in BASE النص الكامل

    أضف إلى المفضلة
  3. 3
    Gene Conversion between Red and Defective Green Opsin Gene in Blue Cone Monochromacy

    المؤلفون: Kestelijn P, De Boulle K, Reyniers E, Devries K, P. J. Willems, Meire F, Van Thienen Mn

    المصدر: Genomics. 29:323-328

    مصطلحات موضوعية: Male, Opsin, X Chromosome, Genetic Linkage, Molecular Sequence Data, Gene Conversion, Color Vision Defects, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Retinal Cone Photoreceptor Cells, Exon, Genetics, medicine, Humans, Point Mutation, Gene conversion, DNA Primers, Mutation, Base Sequence, Rod Opsins, Chromosome Mapping, Gene rearrangement, Pedigree, OPN1LW, Female, sense organs, Color Perception

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e6bb08ac25f4597c25fdabc3ff68855Test
    https://doi.org/10.1006/geno.1995.9998Test


    أضف إلى المفضلة
  4. 4
    Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q

    المؤلفون: Van Camp, Guy, van Thienen, Marie-Noëlle, Handig, I., van Roy, B., Rao, V.S., Milunsky, A., Read, A.P., Baldwin, C.T., Farrer, L.A., Bonduelle, M., Standaert, L., Meire, F., Willems, P.J.

    المصدر: Journal of medical genetics

    مصطلحات موضوعية: Male, PAX3, Biology, Microphthalmia, Genetic Heterogeneity, Mice, Species Specificity, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Waardenburg Syndrome, Hirschsprung Disease, PAX3 Transcription Factor, Gene, Genetics (clinical), Regulation of gene expression, Microphthalmia-Associated Transcription Factor, Chromosomes, Human, Pair 13, Receptors, Endothelin, Waardenburg syndrome, Genetic heterogeneity, Genes, Homeobox, Infant, Newborn, Chromosome Mapping, Gene Expression Regulation, Developmental, Chromosome, medicine.disease, Microphthalmia-associated transcription factor, Receptor, Endothelin B, Mice, Mutant Strains, DNA-Binding Proteins, Neural Crest, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Lod Score, Microsatellite Repeats, Transcription Factors, Research Article

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce0390ad8e2fab69c42444f1782ab1eTest
    https://doi.org/10.1136/jmg.32.7.531Test


    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis

    المؤلفون: Vanopdenbosch, L, Dubois, B, D'Hooghe, M B, Meire, F, Carton, Herwig

    مصطلحات موضوعية: Adult, Aged, DNA Mutational Analysis, DNA, Mitochondrial, Female, Genetic Screening, Humans, Male, Middle Aged, Multiple Sclerosis, Optic Atrophies, Hereditary, Pedigree, Risk Factors, Severity of Illness Index

    العلاقة: Journal of neurology vol:247 issue:7 pages:535-43; https://lirias.kuleuven.be/handle/123456789/17228Test; http://link.springer.de/link/service/journals/00415/bibs/0247007/02470535.htmTest

    الإتاحة: https://lirias.kuleuven.be/handle/123456789/17228Test
    http://link.springer.de/link/service/journals/00415/bibs/0247007/02470535.htmTest

    View record in BASE

    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases

    المؤلفون: Narbay, G, Meire, F, Verloes, A, Casteels, Ingele, Devos, Lily

    مصطلحات موضوعية: Abnormalities, Multiple, Brain, Child, Preschool, Eye Abnormalities, Face, Humans, Infant, Newborn, Male, Scalp, Syndrome

    العلاقة: Bulletin de la Société Belge d'Ophtalmologie vol:261 pages:65-70; https://lirias.kuleuven.be/handle/123456789/531591Test

    الإتاحة: https://lirias.kuleuven.be/handle/123456789/531591Test

    View record in BASE

    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism

    المؤلفون: Meire, F M, Fryns, Jean-Pierre

    مصطلحات موضوعية: Chromosomes, Human, Pair 21, Humans, Infant, Newborn, Lens Subluxation, Male, Mosaicism, Optic Nerve, Ring Chromosomes

    العلاقة: Annales de Génétique vol:37 issue:3 pages:150-2; https://lirias.kuleuven.be/handle/123456789/276018Test

    الإتاحة: https://lirias.kuleuven.be/handle/123456789/276018Test

    View record in BASE

    أضف إلى المفضلة
  8. 8
    Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy

    المؤلفون: Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Thomas Meitinger, Meire F, Cochaux P, Blankenagel A, Kommerell G

    المصدر: Europe PubMed Central

    مصطلحات موضوعية: Male, Letter, Belgium, Optic Atrophies, Hereditary, Germany, Mutation, Humans, Female, DNA Probes, DNA, Mitochondrial, Pedigree

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::73c5383ba29117f9892b0d4df009185bTest
    https://pubmed.ncbi.nlm.nih.gov/7977345Test


    أضف إلى المفضلة
  9. 9
    Nonsyndromic bilateral and unilateral optic nerve aplasia: First familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

    المؤلفون: Meire F, Delpierre I, Brachet C, Roulez F, Van Nechel C, Depasse F, Christophe C, Björn Menten, De Baere E

    المصدر: Scopus-Elsevier
    Europe PubMed Central
    Molecular Vision
    MOLECULAR VISION

    مصطلحات موضوعية: Male, Genetic Linkage, DNA Mutational Analysis, Gene Dosage, MURINE DEVELOPMENT, Neuroimaging, Tretinoin, HORMONE DEFICIENCY, Cytochrome P-450 Enzyme System, Medicine and Health Sciences, Humans, Microphthalmos, MALFORMATIONS, Eye Proteins, Cytochrome P450 Family 26, Genes, Dominant, RETINOIC-ACID, ACID-METABOLIZING ENZYME, OTHERWISE HEALTHY INFANT, MUTATIONS, CHIASM, Chromosomes, Human, Pair 10, Vision Tests, ANOPHTHALMIA, Chromosome Mapping, Optic Nerve, Middle Aged, Retinoic Acid 4-Hydroxylase, Pedigree, Phenotype, Child, Preschool, Asymptomatic Diseases, Mutation, Female, GROWTH-HORMONE, Research Article, Genome-Wide Association Study

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5c8d2c97a48ec1da129615c377c8e20eTest
    http://www.scopus.com/inward/record.url?eid=2-s2.0-79961220664&partnerID=MN8TOARSTest


    أضف إلى المفضلة
  10. 10
    Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases

    المؤلفون: Casteels, I., Devos, E., Meire, F., Narbay, G., Alain VERLOES

    المصدر: Europe PubMed Central
    Scopus-Elsevier

    مصطلحات موضوعية: Male, Scalp, Child, Preschool, Face, Infant, Newborn, Brain, Humans, Abnormalities, Multiple, Eye Abnormalities, Syndrome

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::75b28c140db67329cd210dc56e16ed47Test
    http://europepmc.org/abstract/med/9009364Test


    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث