Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Savino Calvano"'
Autor:
Monica Miozzo, Clelia Tiziana Storlazzi, Paola Collini, Luciana Impera, Massimo Carella, Beatrice Gamba, Daniela Perotti, Savino Calvano, Filippo Spreafico, Orazio Palumbo, Paolo Radice, Leopoldo Zelante, Lucia Miglionico, Giulia Sindici, Silvia Tabano
Publikováno v:
American Journal of Medical Genetics Part A. :1756-1763
We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridiza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43be88fe543d7306b25f2a95e4634c5
https://doi.org/10.1002/ajmg.a.33420
https://doi.org/10.1002/ajmg.a.33420
Publikováno v:
Annales de Génétique. 46:49-52
A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc76ef33b9b192b576157234c00e68b8
https://doi.org/10.1016/s0003-3995(03)00007-8
https://doi.org/10.1016/s0003-3995(03)00007-8
Autor:
Gianni Russo, Pietro Palumbo, Maurizio Merico, Alexis Parada-Bustamante, Emmanouil Manolakos, M. Chaabouni, Silvana Beri, Orsetta Zuffardi, Mohammadreza Dehghani, Leopoldo Zelante, Paola Grammatico, Roberto Giorda, Massimo Carella, Laura Cardarelli, Lilia Kraoua, Maria Clara Bonaglia, Annalisa Vetro, Alfredo Brusco, Orietta Radi, Francesca Forzano, Orazio Palumbo, Marjan Sabaghian, Andrea Castro, Savino Calvano, Mohamed Basly, Sabrina Giglio, Giovanna Camerino, Crystalena Sofocleous
Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b79afcc47e4f277fbd917c3144817e
http://hdl.handle.net/2318/1509053
http://hdl.handle.net/2318/1509053
Publikováno v:
Annales de Génétique. 45:137-140
A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::628bbd357d99a8dd8d6fe0378a9b125f
https://doi.org/10.1016/s0003-3995(02)01121-8
https://doi.org/10.1016/s0003-3995(02)01121-8
Publikováno v:
American journal of medical genetics. Part A. 140(4)
Shprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f3fe137fad71b7b165ba9b07d09c8e
https://pubmed.ncbi.nlm.nih.gov/16411191
https://pubmed.ncbi.nlm.nih.gov/16411191
Publikováno v:
American Journal of Medical Genetics. 41:267-268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f75880f0a099f62cb0c0f54958710cdc
https://doi.org/10.1002/ajmg.1320410229
https://doi.org/10.1002/ajmg.1320410229
Autor:
Paolo Gasparini, Savino Calvano, Marga Nadal, Antonio Zorzano, Virginia Nunes, Maria Julia Calonge, Manuel Palacín, Xavier Testar, Xavier Estivill, Leopoldo Zelante
Publikováno v:
Pediatric Nephrology. 10:170-170
We have established rBAT (named as SLC3A1 in the Genome Data Base) as a gene responsible for cystinuria, a heritable disorder of amino acid transport. The cystinuria locus has been mapped by linkage between microsatellite markers D2S119 and D2S177. F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e8eb562a67f3d9704a307bd44e0788
https://doi.org/10.1007/bf00862064
https://doi.org/10.1007/bf00862064
Publikováno v:
Prenatal Diagnosis; Mar2004, Vol. 24 Issue 3, p229-230, 2p
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2004 Mar; Vol. 24 (3), pp. 229-30.