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pro vyhledávání: '"V. Briscioli"'
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Akademický článek
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Akademický článek
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Publikováno v:
Clinical Genetics. 54:309-314
We describe here a fragile X sibship of borderline retarded sister and brother born to carrier parents. The sister is a compound heterozygote (with a full mutation on one X chromosome and a pre-mutation on the other X chromosome). The brother has a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::233b5d81ad24631724a6b4555d46c0fe
https://doi.org/10.1034/j.1399-0004.1998.5440408.x
https://doi.org/10.1034/j.1399-0004.1998.5440408.x
Publikováno v:
Archives de Pédiatrie. 3:549-554
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e47ef8bd8f04177d91df7a2caf02ac5
https://doi.org/10.1016/0929-693x(96)83225-8
https://doi.org/10.1016/0929-693x(96)83225-8
Autor:
Massimo Mastrangelo, Angelo Selicorni, Maurizio Viri, G. L. Terzoli, Antonino Romeo, Giovanni Lanzi, F. Viani, Marina Di Segni, Giuseppe Gobbi, Faustina Lalatta, Daniela Bettio, Rossella Parini, V. Briscioli
Publikováno v:
Europe PubMed Central
We studied the seizure and polygraphic patterns of 18 patients with Angelman's syndrome. All patients showed movement problems. Eleven patients were also reported to have long-lasting periods of jerky movements. The polygraphic recording showed a myo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305a24813a15472d76278ec52b5cb7ee
https://doi.org/10.1177/088307389501000609
https://doi.org/10.1177/088307389501000609
Autor:
Angelo Selicorni, Claude Dorche, Renato Fortuna, Elisabetta Vismara, Grazia M.S. Mancini, V. Briscioli, G. Minniti, Rossella Parini, Ubaldo Caruso
Publikováno v:
American journal of medical genetics. 73(3)
Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51fbe04583de95d009906fb17731d3ae
https://pubmed.ncbi.nlm.nih.gov/9415683
https://pubmed.ncbi.nlm.nih.gov/9415683
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 3(6)
Dentinogenesis imperfecta is exceptionally associated to chondrodysplasia. The aim of this work is to present four cases of such an association.These four children (three boys; one girl) suffered from growth retardation, ligamentous hyperlaxity, scol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7fdeb223b5bd7b8725c0757d41aa5f4
https://pubmed.ncbi.nlm.nih.gov/8881299
https://pubmed.ncbi.nlm.nih.gov/8881299
Publikováno v:
American journal of medical genetics. 58(1)
Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::970fd5f3545794c0f163845bbf653d47
https://pubmed.ncbi.nlm.nih.gov/7573151
https://pubmed.ncbi.nlm.nih.gov/7573151
Autor:
Angelo Selicorni, Daniela Giardino, Graziano Grugni, F Carnevale, Lidia Larizza, N. Rizzi, D. Bettio, V. Briscioli
Publikováno v:
American journal of medical genetics. 56(2)
We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e1b31239da28949edf6ac4a153f365
https://pubmed.ncbi.nlm.nih.gov/7625450
https://pubmed.ncbi.nlm.nih.gov/7625450