Zobrazeno 1 - 10
of 929
pro vyhledávání: '"J, DE GROUCHY"'
Publikováno v:
Clinical Genetics. 18:20-26
Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::610a4bf70c62ac426ee59fded08ab1da
https://doi.org/10.1111/j.1399-0004.1980.tb01359.x
https://doi.org/10.1111/j.1399-0004.1980.tb01359.x
Publikováno v:
Bulletin du cancer. 78(1)
Forty-percent of retinoblastomas are due to a mutation inherited as an autosomal dominant trait with a high penetrance. Cytogenetic forms of retinoblastoma have led to the location of the gene, to the identification of numerous chromosome 13 specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0cfcf31445023468da42d185319e0007
https://pubmed.ncbi.nlm.nih.gov/2021688
https://pubmed.ncbi.nlm.nih.gov/2021688
Autor:
J, de Grouchy, C, Turleau
Publikováno v:
Recenti progressi in medicina. 81(5)
The development of cytogenetic high resolution banding techniques has allowed the observation of specific chromosome rearrangements--i.e. microdeletions, translocations--in patients with morbid conditions suspected to have a genetic component but for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f224c7f54d487a655f99687b52f91d57
https://pubmed.ncbi.nlm.nih.gov/2198645
https://pubmed.ncbi.nlm.nih.gov/2198645
Autor:
J de Grouchy
Publikováno v:
Biomedicine & Pharmacotherapy. 51:365-366
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7dfc66f0c7fa97955507d7afc420c13
https://doi.org/10.1016/s0753-3322(97)89427-9
https://doi.org/10.1016/s0753-3322(97)89427-9
Autor:
J. De Grouchy
Publikováno v:
médecine/sciences. 10:624
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10b94acb1b6a7bf7e633a55853da3bc9
https://doi.org/10.4267/10608/2677
https://doi.org/10.4267/10608/2677
Publikováno v:
Cytogenetic and Genome Research. 31:228-239
A total 23 enzymatic markers were analyzed in cell hybrids obtained between Cebus capucinus (CCA) fibroblasts and a Chinese hamster cell line. The following markers, or syntenic groups, could be localized in CCA chromosomes homologous to human chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d66af518847d78464a599870bdc46522
https://doi.org/10.1159/000131652
https://doi.org/10.1159/000131652
Autor:
J de Grouchy, Joëlle Soulie
Publikováno v:
Human Genetics. 60:172-175
Nineteen cell hybrids were obtained by fusing rabbit (Oryctolagus cuniculus, OCU) fibroblasts and a Chinese hamster cell line HGPRT. Eleven enzymatic markers were investigated for cosegregation analysis. Seven could be assigned to OCU chromosomes: LD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef503b92e828db2215f7e4896a11dc52
https://doi.org/10.1007/bf00569707
https://doi.org/10.1007/bf00569707
Autor:
M Andersson, D Pettay, Catherine Turleau, David C. Page, J de Grouchy, I Subrt, A. de la Chapelle
Publikováno v:
Human Genetics. 79:2-7
Three 45,X males have been studied with Y-DNA probes by Southern blotting and in situ hybridization. Southern blotting studies with a panel of mapped Y-DNA probes showed that in all three individuals contiguous portions of the Y chromosome including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a85ab4327beabd1944509487691dad
https://doi.org/10.1007/bf00291700
https://doi.org/10.1007/bf00291700
Publikováno v:
Human Genetics. 53:299-302
A phenotypically normal 32-year-old male with azoospermia was found to have a 45,X karyotype with presence of excess euchromatic material on 14p. The parent's karyotypes are normal. This observation is interpreted as a Y/14 translocation with loss of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3afc168f753c8f7c099a54fcc18fdde3
https://doi.org/10.1007/bf00287044
https://doi.org/10.1007/bf00287044