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Publikováno v:
British Journal of Audiology. 33:329-333
Microdeletion 22q11 (del22q11) is one of the most frequent causes of genetic syndromes. The majority of cases of di George and velocardiofacial syndromes are due to del22q11. These conditions are considered to be developmentally related to neural cre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::222c908226afccd5c7d0e1cfeb9d1a4d
https://doi.org/10.3109/03005369909090116
https://doi.org/10.3109/03005369909090116
Publikováno v:
International journal of pediatric otorhinolaryngology. 75(10)
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant disorder of the cranio-facial morphogenesis affecting 1 of 50,000 live newborns. Most children with this disease present with bilateral, severe conductive h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b95989b2d4d758f16988c2b08ce4d4
https://pubmed.ncbi.nlm.nih.gov/21839526
https://pubmed.ncbi.nlm.nih.gov/21839526
Autor:
Filippo M. Santorelli, Alessandro Tessa, Giacomo Marotta, L. Tieri, Laura Vilarinho, Aldo Giannotti
Publikováno v:
European Journal of Human Genetics. 9:147-149
Hearing loss is a relatively frequent defect in children with a genetic or predisposition basis in about 50% of cases. Mitochondrial DNA (mtDNA)-associated disorder often present with sensorineural hearing loss (SNHL) either in isolation or as a part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be6179dcdadf933e791d10c3b1437e2
https://doi.org/10.1038/sj.ejhg.5200601
https://doi.org/10.1038/sj.ejhg.5200601
Autor:
F. Ticca, Pasquale Marsella, Laura Lancclla, L. Tieri, Maria Cecilia Graziani, Luciana Nicolosi, Maria Rosa Rivosecchi, Filippo Maria Tucci, V. Pierro, Donatella Comparcola, Cristiana Ticca
Publikováno v:
Infectious Diseases in Clinical Practice. 8:305-307
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf8184f7d513e050720d7a780f185c60
https://doi.org/10.1097/00019048-199908000-00010
https://doi.org/10.1097/00019048-199908000-00010
Publikováno v:
Pediatric Nephrology. 10:38-40
The incidence of sensorineural hearing loss (SNHL) was investigated in 68 patients who reached chronic renal failure (CRF) in childhood with the aim of identifying possible risk factors. Tests were carried out by means of pure-tone and impedance audi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d2692126f997eae025a106faf6e84f
https://doi.org/10.1007/bf00863438
https://doi.org/10.1007/bf00863438
Autor:
Alessandra Tessa, F. Presuttari, F.M. Santorelli, M.C. Digilio, C. Pacifico, L. Tieri, C. Patrono, Aldo Giannotti
Publikováno v:
Journal of medical screening. 7(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd861f46ad29436f05b6c3d4a905481d
https://pubmed.ncbi.nlm.nih.gov/11126168
https://pubmed.ncbi.nlm.nih.gov/11126168
Autor:
Maria Cristina Digilio, Maria Gabriela Obregon, Rita Mingarelli, L. Tieri, Bruno Dallapiccola, Aldo Giannotti, Concettina Pacifico
Publikováno v:
American journal of otolaryngology. 21(6)
The main clinical features of facioaudiosymphalangism syndrome (FASS) (OMIM *186500) are characterized by a distinct facies with a broad hemicylindrical nose and hypoplasia of alae nasi, proximal symphalangism of the fingers, carpal and tarsal fusion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6ffadc9b9c1b02bf04a4603b2290f47
https://pubmed.ncbi.nlm.nih.gov/11115527
https://pubmed.ncbi.nlm.nih.gov/11115527
Microdeletion 22q11 (del22q11) is one of the most frequent causes of genetic syndromes. The majority of cases of di George and velocardiofacial syndromes are due to del22q11. These conditions are considered to be developmentally related to neural cre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d9f9b1a9e0e4e2525b41ff34feb54b5e
http://hdl.handle.net/11573/113269
http://hdl.handle.net/11573/113269
Autor:
F, Ticca, D, Comparcola, M C, Graziani, L, Lancella, P, Marsella, L, Nicolosi, V, Pierro, M R, Rivosecchi, C, Ticca, L, Tieri
Publikováno v:
Le infezioni in medicina. 5(2)
Non tuberculous Mycobacterial (NTM) Infections mainly affect immunocompromised patients, appearing as disseminated or pulmonary disease. In immunocompetent children the most common form of infection with NTM is cervical adenitis. Ear infection seems
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7bfa06dd2a76c0ec03a82715a5d0d095
https://pubmed.ncbi.nlm.nih.gov/14966398
https://pubmed.ncbi.nlm.nih.gov/14966398