Zobrazeno 1 - 10
of 116
pro vyhledávání: '"P, Cerruti Mainardi"'
Autor:
Cerruti Mainardi Paola
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 1, Iss 1, p 33 (2006)
Abstract The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features ar
Externí odkaz:
https://doaj.org/article/ff6f5a6f03e04f1eb70f42189aad97bd
Autor:
Christiane Zweier, M Zollino, Livia Garavelli, Pastore G, P. Cerruti-Mainardi, M. Godi, Nicola Longo, S. Bernasconi, G. Neri, David Mowat, Raffaele Virdis, S. Pedori, Giacomo Banchini, Anita Rauch, S. Provera
Publikováno v:
Hormone Research in Paediatrics. 63:187-192
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61856ab6f7d367f3b99b015283f552a8
https://doi.org/10.1159/000085894
https://doi.org/10.1159/000085894
Autor:
P, Cerruti Mainardi, M, Spunton, V, Arcuri, G, Pastore, M, Pedrinazzi, S, Nardi, C, Castronovo, D, Alessi, A, Guala
Publikováno v:
Minerva pediatrica. 64(4)
The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75d862c36bf60835fbb2e0c74d8f14bd
https://pubmed.ncbi.nlm.nih.gov/22728611
https://pubmed.ncbi.nlm.nih.gov/22728611
Autor:
Fiorella Gurrieri, Francesca Rivieri, D. De Brasi, Daniela Turchetti, Vera Uliana, R. Bergamaschi, Marco Seri, Livia Garavelli, Silvia Sassi, Giovanni Neri, S. Bernasconi, Eva Pompilii, M. Zignani, Francesca Faravelli, Rosa Mostardini, Alessandra Renieri, N. Wakamatsu, P. Cerruti Mainardi, Paolo Emilio Bianchi, Maurizia Grasso, Maria Pia Sperandeo, Margherita Silengo, Francesca Mari, Anita Wischmeijer, Maria Gnoli, F. Forzano, Daniela Orteschi, Gianfranco Sebastio, Guido Cocchi, F. Soli, Marcella Zollino, E. Favaron, R. Verri, Massimiliano Cecconi, Enrico Albertini, Laura Mazzanti
Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16874b268be4369ece48afc3f6f38358
http://hdl.handle.net/2318/58879
http://hdl.handle.net/2318/58879
Autor:
L, Garavelli, P, Cerruti-Mainardi, R, Virdis, S, Pedori, G, Pastore, M, Godi, S, Provera, A, Rauch, C, Zweier, M, Zollino, G, Banchini, N, Longo, D, Mowat, G, Neri, S, Bernasconi
Publikováno v:
Hormone research. 63(4)
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3dac30ea6edd6277d78b420b765a2b75
https://pubmed.ncbi.nlm.nih.gov/15908750
https://pubmed.ncbi.nlm.nih.gov/15908750
Autor:
A, Guala, G, Pastore, P, Cerruti Mainardi, E, Liverani, T, Ghini, A, Tagliabue, A, Capo, G, Quazza, A C, Cigolotti, M, Zaffaroni, P, Foracchia, L, Garassino, R, Uasone
Publikováno v:
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 19(2)
Defects of the middle line are an heterogeneous group of congenital malformations due to commune pathogenetic mechanisms. We have made a case-control study about 150 newborns, who have at least 1 defect of the middle line. Results prove an excess of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2c056012d08d09924aacc4946d11283
https://pubmed.ncbi.nlm.nih.gov/9312746
https://pubmed.ncbi.nlm.nih.gov/9312746
Publikováno v:
Minerva pediatrica. 48(9)
A survey was carried out within the framework of the Association of Hospital Pediatricians (APO) on the implementation of the pediatric structure in Pediatric hospitals wards in Piedmont during 1990. There was a 100% adhesion rate. It was found that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d180b40a737b64f66846a6dcb920605b
https://pubmed.ncbi.nlm.nih.gov/8992280
https://pubmed.ncbi.nlm.nih.gov/8992280
Publikováno v:
Minerva pediatrica. 46(7-8)
The authors report two cases of spasmus nutans (a clinical syndrome peculiar to infancy the complete form of which is characterised by nystagmus, rhythmic head movements and wryneck) in two extra-EEC infants. The following elements were present in bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::84e590282e4f68ed77642d58254e7ccd
https://pubmed.ncbi.nlm.nih.gov/7935254
https://pubmed.ncbi.nlm.nih.gov/7935254
Publikováno v:
Minerva pediatrica. 44(4)
In recent years several cases of anemia (iron deficiency) have been reported in adults who participate in long-distance running although its etiology has not been entirely explained. We report the case of a 16-year-old girl who had participated in mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0a677e7f0df27ff828e7706e7af053fd
https://pubmed.ncbi.nlm.nih.gov/1588899
https://pubmed.ncbi.nlm.nih.gov/1588899
Publikováno v:
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 13(2)
Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, fir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6b4a565a3237509fb4db1d3f42aa80b2
https://pubmed.ncbi.nlm.nih.gov/1896385
https://pubmed.ncbi.nlm.nih.gov/1896385