Zobrazeno 1 - 10
of 43
pro vyhledávání: '"E. A. Bühler"'
Publikováno v:
Clinical Genetics. 31:273-275
Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27281e676f183af39e62721a8d97bdd2
https://doi.org/10.1111/j.1399-0004.1987.tb02806.x
https://doi.org/10.1111/j.1399-0004.1987.tb02806.x
Publikováno v:
Gynakologisch-geburtshilfliche Rundschau. 41(1)
The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6faae8ee17e48778e17c8623adb4db3a
https://pubmed.ncbi.nlm.nih.gov/11423730
https://pubmed.ncbi.nlm.nih.gov/11423730
Autor:
E, Böttcher-Bühler
Publikováno v:
Fortschritte der Medizin. 117(1-2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab33b53560abe4ac9b861c7362895111
https://pubmed.ncbi.nlm.nih.gov/10036808
https://pubmed.ncbi.nlm.nih.gov/10036808
Publikováno v:
American journal of medical genetics. 62(2)
We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6fa75275ce756f5e7f1ce2dfa8ebe43
https://pubmed.ncbi.nlm.nih.gov/8882390
https://pubmed.ncbi.nlm.nih.gov/8882390
Autor:
E, Böttcher-Bühler
Publikováno v:
Fortschritte der Medizin. 112(17)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::80c18f6f9e1ff901dcba26ee5f478e07
https://pubmed.ncbi.nlm.nih.gov/8076893
https://pubmed.ncbi.nlm.nih.gov/8076893
Autor:
Josef Achermann, J. Melki, F. Béguin, S Y Dahoun, Ricardo Laurini, W. Schmid, S. Dahoun-Hadorn, G. Beck, U. Schilt, R. Gaudenz, Marguerat P, Z. Davidson, T. Pexieder, G. Salvoldelli, Olivier Irion, Roland Spiegel, D. Pless, M. S. Ramzin, R. Fessler, A. Knauer, U. Gigon, R. Bucher, Patrick Hohlfeld, S. Gerber, E. M. Bühler, C. Maillard, D. Weihs, L. Bronz, E. Colombo, Marie-Claude Addor, P Extermann, Graziano Pescia, S. Braga, L. Francipane, Ch. König, C. D. DeLozier-Blanchet, A. McDonald, C. Gosden, Franz Binkert, P. Bischoff, H. Drescher, L. Dao, O. Heron, C. Fässli, Fred Paccaud, Eugen Boltshauser
Publikováno v:
Verhandlungen der Schweizerischen Gesellschaft für Gynäkologie und Geburtshilfe ISBN: 9783662371046
Un mosaicisme chromosomique apparemment limite au placenta (MCP) est trouve dans 1 a 2% des diagnostics prenataux par choriocentese. Le MCP semble le plus souvent ne pas avoir de consequence fœtale fâcheuse, puisque la grande majorite des enfants n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::584b525d5d2a35d0d1480f13a5fdbed7
https://doi.org/10.1007/978-3-662-37812-0_13
https://doi.org/10.1007/978-3-662-37812-0_13
Publikováno v:
Annales de genetique. 34(1)
The centromere separation sequence was determined in the mitoses of 5 subjects with "balanced" D/D translocations. Similarly to the acrocentrics, also the D/D fusions belonged to the chromosomes the sister chromatids of which separated last in the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ddba98e765ef355d17fd4d7cd47ac5d
https://pubmed.ncbi.nlm.nih.gov/1952785
https://pubmed.ncbi.nlm.nih.gov/1952785
Publikováno v:
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde. 138(11)
In a sister and a brother with striking similarity of facial dysplasias, severe disturbance of expressive speech, and mild mental retardation a partial trisomy of the long arm of chromosome 4 was identified as cause of these anomalies. The partial tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0eb6fa4377159fffb3c4b1ca41381920
https://pubmed.ncbi.nlm.nih.gov/2290435
https://pubmed.ncbi.nlm.nih.gov/2290435
Publikováno v:
Humangenetik. 26:193-198
2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b8fa6a77bfc5790da91ce2b021b9a7
https://doi.org/10.1007/bf00281453
https://doi.org/10.1007/bf00281453
Publikováno v:
European Journal of Pediatrics. 123:293-300
A 16-year-old boy with trisomy 8 mosaicism is presented. Increased birth weight, delayed psychomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc8a4ff1030e0d700363e1bf76ef1f1b
https://doi.org/10.1007/bf00444650
https://doi.org/10.1007/bf00444650