Zobrazeno 1 - 10
of 116
pro vyhledávání: '"G, Melmer"'
Publikováno v:
Psychiatric Genetics. 15:83-90
The higher prevalence of autism in males than in females suggests the possible involvement of the X chromosome. To test the hypothesis that there are mutations increasing susceptibility to autism on the X chromosome, and in particular the distal port
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca1b1371084824a3bd3385b2e2f454b2
https://doi.org/10.1097/00041444-200506000-00004
https://doi.org/10.1097/00041444-200506000-00004
Publikováno v:
Human Heredity. 47:254-262
We undertook molecular and cytogenetic analyses in 25 families multiplex for autism and related disorders. Three of the multiplex families exhibited fragile X, and the affected offspring all exhibited CGG triplet repeat insertion mutations in the FMR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855e75e515a1acb45d88671f2c720d90
https://doi.org/10.1159/000154421
https://doi.org/10.1159/000154421
Autor:
R. Tupler, N.G. Laing, H.J. Eyre, M.A. Garrido-Ramos, N.A. Mazurok, S.J. Goss, D. Francis, A. Vandenberghe, S.M. Zakian, L. Kedes, E. Le Guern, M. Gugenheim, C. Bonnebouche, S.A. Lane, P.F.R. Little, M. Cortinovis, C. Meredith, D.A. Miller, E.I. Yantsen, D.F. Callen, E.Kh. Ginsburg, C.H. van Os, G. Melmer, R. Gouider, L. Tiepolo, F. Sturtz, M. Lafage-Pochitaloff, A. Plet, Y. Agid, R. Lozano, B. Chérif-Zahar, Angela Maria Vianna-Morgante, C. Ruiz Rejón, P. Bouche, M Janson, E. Dainotti, I. Siedlaczck, N.M. Matveeva, J.-M. Blanchard, D.O. Weghuis, A. Mincheva, N. Ravisé, J.T. Epplen, David W. Hale, O.J. Miller, T.M. Fink, M. Jamilena, I. Salvignol, A. Brice, A. Geurts van Kessel, P. Maraschio, P.M.T. Deen, B. Wieringa, G. Chazot, S. Tardieu, L.L. Deaven, P. Calvas, I. Todorov, T.B. Nesterova, J. Imbert, C. Cerdan, Q.-Q. Cai, Anne Lise Børresen, Peter Lichter, J.A.M. Graves, P.-M. Gonnaud, D. Depétris, R.A. Sturm, J.L. Cassady, S.D. Wilton, M. Ruiz Rejón, P.A. Akkari, A. Blancher, O. Riess, M.-G. Mattéi, Carla Rosenberg, A.G. Shilov, D.I. Francis, M. Nordeskjöld, D. Werner, S. Kredtke
Publikováno v:
Cytogenetic and Genome Research. 65:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::435361dce90327342265c6b0f6662d9c
https://doi.org/10.1159/000133634
https://doi.org/10.1159/000133634
Autor:
Hugh Gurling, G Melmer, David Curtis, Robin Sherrington, J Brynjolfsson, Hannes Petursson, Larry Rifkin, S. Holmes, Peter Brett, P Murphy, E Moloney
Publikováno v:
Annals of Human Genetics. 57:27-39
Summary Five kindreds selected through probands attending an Icelandic hospital were recruited for linkage studies of manic depression. The rates of affection were equal for males and females and the age of onset appeared to be predominantly in early
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c72cda6479ad55d75a18f3493c7672
https://doi.org/10.1111/j.1469-1809.1993.tb00884.x
https://doi.org/10.1111/j.1469-1809.1993.tb00884.x
Publikováno v:
Current pharmaceutical design. 15(23)
Immunotoxins are powerful tools to specifically eliminate deviated cells. Due to the side effects of the original immunotoxins, they were only considered for the treatment of cancer as in these cases, the potential favourable effect outweighed the un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c36ee6d549d02c7b36af48a333bb8f6
https://pubmed.ncbi.nlm.nih.gov/19689341
https://pubmed.ncbi.nlm.nih.gov/19689341
Autor:
Baljinder S. Mankoo, Hugh Gurling, Hannes Petursson, J Brynjolfsson, G Kalsi, G Melmer, Robin Sherrington
Publikováno v:
Psychiatric Genetics. 2:161-166
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b122cf01f760046aeb78f91b6136af3
https://doi.org/10.1097/00041444-199124000-00003
https://doi.org/10.1097/00041444-199124000-00003
Autor:
G Melmer, David Curtis, Hugh Gurling, Baljinder S. Mankoo, G Kalsi, Mike Dixon, Robin Sherrington
Publikováno v:
Human heredity. 43(3)
The genes for spinal muscular atrophy (SMA) and a possible subtype of schizophrenia (SCZD1) have been mapped to chromosome 5q11.2-q13.3. DNA markers have been mapped to 5q11.2-q13.3 using a hybrid cell line deleted for this region [Gilliam et al., Ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2d01f489f83ba4f0145aa35567421cd
https://pubmed.ncbi.nlm.nih.gov/8330884
https://pubmed.ncbi.nlm.nih.gov/8330884
Publikováno v:
EXS. 67
Various kinds of simple tandemly repetitive DNA sequences are abundantly interspersed in the genomes of practically all eukaryotic species studied. The comparatively elevated mutation rates of simple repeat blocks result in highly polymorphic and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a75fc3a695ce5d4e303f497a0e994f89
https://pubmed.ncbi.nlm.nih.gov/8400700
https://pubmed.ncbi.nlm.nih.gov/8400700
Autor:
P. Schmidt, Joachim Hundrieser, Johannes Buitkamp, L. Roewer, Jörg T. Epplen, G. Melmer, Cornelia Epplen
Publikováno v:
The Clinical Investigator. 70
The purpose of this review is to discuss critically the practical meaning of a specific genome component, simple repetitive desoxyribonucleic acid (DNA) sequences as clinical and forensic and diagnostic and research tools. Previously, multilocus DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d79230a0a760b30758ed1fe68f01af2
https://doi.org/10.1007/bf00180316
https://doi.org/10.1007/bf00180316
Publikováno v:
Genomics. 11(3)
A human neuroreceptor clone (G21), which was isolated by cross-hybridization with the human clone for the beta 2-adrenergic receptor, has recently been shown to encode the gene for the 5HT1A receptor (HTR1A) subtype. In situ hybridization to human me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd9e6888caeff82feeec94ab02b21ad
https://pubmed.ncbi.nlm.nih.gov/1685484
https://pubmed.ncbi.nlm.nih.gov/1685484