نتائج البحث

المصدر: Hjelmborg, J B, Dalgård, C, Möller, S, Steenstrup, T, Kimura, M, Christensen, K, Kyvik, K O & Aviv, A 2015, ' The heritability of leucocyte telomere length dynamics ', Journal of Medical Genetics, vol. 52, no. 5, pp. 297-302 . https://doi.org/10.1136/jmedgenet-2014-102736Test
Journal of Medical Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5495c7e0fb1b35c897f5ca99ab1b44ceTest
https://doi.org/10.1136/jmedgenet-2014-102736Test

5

Epigenetic inheritance of telomere length obscures identification of causativePARNlocus

المؤلفون: Chao Xing, Christine Kim Garcia

المصدر: Journal of Medical Genetics. 53:356-358

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c6fdfd370efd241c9b4b4ec60d5969aTest
https://doi.org/10.1136/jmedgenet-2015-103685Test

6

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

المؤلفون: Catherine Ozilou, Arnold Munnich, Jeanne Amiel, Catherine Turleau, Valérie Cormier-Daire, S. Romana, M-C de Blois, Michel Vekemans, P. Gosset, Laurence Colleaux, Stanislas Lyonnet, M. Le Merrer, Odile Raoul, Solange Heuertz, Marguerite Prieur, Marlène Rio, Florence Molinari

المساهمون: Service de Génétique Médicale [CHU Necker], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), 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), Handicaps génétiques de l'enfant (Inserm U393), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2002, 39 (4), pp.266-270. ⟨10.1136/jmg.39.4.266⟩

مصطلحات موضوعية: Male, Proband, MESH: Genotype, Chromosome Segregation, Gene Duplication, MESH: Child, Gene duplication, MESH: Syndrome, MESH: In Situ Hybridization, Fluorescence, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Gene Rearrangement, Genetics, 0303 health sciences, MESH: Genetic Testing, medicine.diagnostic_test, MESH: Gene Duplication, 030305 genetics & heredity, Chromosome Mapping, Syndrome, Telomere, MESH: Fluorescent Dyes, Subtelomere, Uniparental disomy, Pedigree, Female, Original Article, Chromosome Deletion, medicine.medical_specialty, Genotype, MESH: Pedigree, MESH: Gene Rearrangement, MESH: Chromosome Deletion, MESH: Chromosome Segregation, Biology, Sensitivity and Specificity, MESH: Intellectual Disability, 03 medical and health sciences, Intellectual Disability, MESH: Uniparental Disomy, MESH: Polymorphism, Genetic, medicine, Humans, Genetic Testing, Genotyping, Fluorescent Dyes, 030304 developmental biology, Genetic testing, Polymorphism, Genetic, MESH: Humans, Cytogenetics, Gene rearrangement, Uniparental Disomy, medicine.disease, MESH: Male, MESH: Sensitivity and Specificity, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Microsatellite Repeats, MESH: Telomere, MESH: Chromosome Mapping, MESH: Female, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afb0cda15520a33f5e8467b7519902eTest
https://doi.org/10.1136/jmg.39.4.266Test

7

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

المؤلفون: Erik A. Sistermans, Willy M. Nillesen, C G de Kovel, Sascha Vermeer, M Kets, M H A Versteeg, Dominique Smeets, Gerard Merkx, Nine V A M Knoers, Han G. Brunner, B. B. A. De Vries, David A. Koolen, C M A van Ravenswaaij

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Journal of Medical Genetics, 41, 12, pp. 892-9
Journal of Medical Genetics, 41(12), 892-899. BMJ Publishing Group
Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, Van Ravenswaaij, C M A, De Kovel, C G, Brunner, H G, Smeets, D, De Vries, B B A & Sistermans, E A 2004, ' Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) ', Journal of Medical Genetics, vol. 41, no. 12, pp. 892-899 . https://doi.org/10.1136/jmg.2004.023671Test
Journal of Medical Genetics, 41, 892-9