Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Cinzia, Sforzini"'
Autor:
Giacomo Cagnoli, Angelo Selicorni, Emilio F. Fossali, Mario G. Bianchetti, Donatella Milani, Cinzia Sforzini
Publikováno v:
American Journal of Medical Genetics Part A. :395-397
Sixty-one patients affected by de Lange syndrome underwent a careful renal and urological evaluation including family and personal history, physical examination, urinalysis, renal tract ultrasonography, and serum creatinine. A voiding cystourethrogra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19c2169c489f2cbf517079e9557235f
https://doi.org/10.1002/ajmg.a.30445
https://doi.org/10.1002/ajmg.a.30445
Autor:
Alessandra Tonelli, Marco Pessina, Maria Teresa Bassi, Cinzia Sforzini, Renato Borgatti, Romina Romaniello, Filippo Arrigoni, Andrea Citterio, Fabio Triulzi, Carmelo Rizzari
Publikováno v:
Journal of child neurology. 28(12)
Mutations in the conserved telomere maintenance component 1 ( CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein ( NDP) gene was found mutated in Norri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace8ea7c053c506b33238c15faf0044e
https://pubmed.ncbi.nlm.nih.gov/23220793
https://pubmed.ncbi.nlm.nih.gov/23220793
Autor:
Florinda Cavalleri, Angelo Selicorni, Angela Bentivegna, Lidia Larizza, Luigi Memo, Maria Teresa Divizia, Cinzia Sforzini, Maura Masciadri, Silvia Russo, Gioacchino Scarano, Paola Castronovo, E. Tarantino, Donatella Milani, Cristina Gervasini, A. Domi
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, upper limb abnormalities, growth and cognitive retardation. About half of all patients with CdLS carry mutations in the NIPBL gene. The first Itali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681486a9d4ff136dd113bf8446b831fc
http://hdl.handle.net/10281/12741
http://hdl.handle.net/10281/12741
Autor:
Gianluigi, Ardissino, Mario, Bianchetti, Marta, Braga, Armando, Calzolari, Valeria, Daccò, Emilio, Fossalis, Silvia, Ghiglia, Anna, Orsi, Iva, Pollini, Cinzia, Sforzini, Patrizia, Salice
Publikováno v:
Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology. 5(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c47a7b12734b3988d413a87b72daa5f
https://pubmed.ncbi.nlm.nih.gov/15182068
https://pubmed.ncbi.nlm.nih.gov/15182068
Autor:
Alberto Edefonti, Rodo O. von Vigier, Urs S Sieber, Mario G. Bianchetti, Emilio F. Fossali, Cinzia Sforzini
Publikováno v:
Journal of hypertension. 21(3)
Background Since good control of arterial hypertension is of paramount importance, the present study was carried out to evaluate blood pressure control in pediatric patients with hypertension receiving regular medical care. Study design The charts of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9567dda7f4e2afa52a62cfe049e87520
https://pubmed.ncbi.nlm.nih.gov/12640243
https://pubmed.ncbi.nlm.nih.gov/12640243
Autor:
Cinzia Sforzini, Angelo Selicorni, Donatella Milani, Mario G. Bianchetti, Anna Barbato, Emilio F. Fossali, Gianpaolo Grumieri
Publikováno v:
ResearcherID
Renal ultrasound scan, circulating creatinine and calcium, and the urinary calcium excretion rate were investigated in 57 patients with clinically and genetically typical Williams-Beuren syndrome (25 female and 32 male subjects, aged from 1.0 year to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fe15875e4bd9d1f44d00f5509b0e991
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:12432430&KeyUID=MEDLINE:12432430
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:12432430&KeyUID=MEDLINE:12432430