Výsledky vyhledávání

Absence of Genomic Imprinting at the DiGeorge Locus

Autor: D. Berube, J. Auge, Michel Vekemans, D. Theophile

Publikováno v: Acta geneticae medicae et gemellologiae: twin research. 45:277-280

In situ hybridization with fluorescence probes (FISH) on interphase nuclei allows evaluation of the stage of DNA replication. For example, in a diploid cell in G1, unreplicated DNA gives two single dots of hybridization whereas in a diploid cell in G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3d319536af309b62ec6cb2d67d2385
https://doi.org/10.1017/s0001566000001458

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Correction of X-Linked Hyper-IgM Syndrome by Allogeneic Bone Marrow Transplantation

Autor: Caroline Thomas, Malika Benkerrou, G de Saint Basile, F Le Deist, Stéphane Blanche, Alain Fischer, Elie Haddad, D Theophile

Publikováno v: New England Journal of Medicine. 333:426-429

The X-linked hyper-IgM syndrome is a rare immunodeficiency disease in which the ability of B cells to switch immunoglobulin production from IgM to IgG, IgA, and IgE is defective.1 A variety of muta...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1dad5725c3860f42c2f243f9b8e0c284
https://doi.org/10.1056/nejm199508173330705

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Akademický článek

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[Detection of chromosome anomalies using in situ hybridization on fetal tissue sections]

Autor: F, Cessot, D, Theophile, A M, Beauvais, A L, Delezoide, M, Vekemans

Publikováno v: Annales de pathologie. 17(4)

The use of in situ hybridization to detect and characterize chromosome anomalies on cytogenetic preparations is now largely applied in clinical laboratories. Its use in embryofetopathology on formalin-fixed and paraffin-embedded tissues, when an aneu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bb734051eb3fd0ca0a496463ec56a2f6
https://pubmed.ncbi.nlm.nih.gov/9409887

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Interstitial duplication of the short arm of chromosome 2: report of a new case and review

Autor: Michel Vekemans, André Mégarbané, D Theophile, N Souraty, Marguerite Prieur, J. Auge, P Chédid

An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c12751027897e0b35de38ebe2b32165
https://europepmc.org/articles/PMC1051069/

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Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features

Autor: A, Mégarbané, N, Souraty, D, Theophile, M, Vekemans, L, Samaras, Z, Ghorayeb

Publikováno v: Annales de genetique. 40(1)

The authors describe a boy with a triangular face, wide forehead, telecanthus, large ears, prominent root of the nose, long and bulging philtrum, thin upper lip, everted lower lip, high arched palate, micrognathism, pointed chin, overriding toes, joi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d26bbbfffa4d7681df9fcfe6e2f49170
https://pubmed.ncbi.nlm.nih.gov/9150851

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Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation

Autor: C, Thomas, G, de Saint Basile, F, Le Deist, D, Theophile, M, Benkerrou, E, Haddad, S, Blanche, A, Fischer

Publikováno v: The New England journal of medicine. 333(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a537027737a6d9ca436828c0d106dcc2
https://pubmed.ncbi.nlm.nih.gov/7542361

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Molecular analysis of 12 patients with the t(8;21) translocation and M2 acute myelogenous leukemia

Autor: M L, Yaspo, D, Theophile, A, Aurias, N, Créte, N, Créau-Goldberg, C, Bastard, A M, Suberville, F, Valensi, F, Viguier, R, Berger

Publikováno v: Genes, chromosomescancer. 5(2)

The t(8;21)(q22;q22) is a nonrandom cytogenetic abnormality associated with acute myelogenous leukemia of the M2 subtype (FAB classification). The 8q- and 21q+ derivative chromosomes have previously been isolated in somatic cell hybrids and used to m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::348f1daf6613982159ccbe376658c275
https://pubmed.ncbi.nlm.nih.gov/1381953

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