Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations

Autor: Barbara Lombardo, Sandra Iossa, Luca Di Leo, Lucio Pastore, Annamaria Franzè, Valerio Costa, Daniela Esposito, Carla Perrotta, Francesco Verdesca, Andrea Vitale

Publikováno v: Cytogenetic and Genome Research. 158:25-31

Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a01142d79110e3b81f98be6c8407018
https://doi.org/10.1159/000499886

Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations

Autor: Barbara, Lombardo, Daniela, Esposito, Sandra, Iossa, Andrea, Vitale, Francesco, Verdesca, Carla, Perrotta, Luca, Di Leo, Valerio, Costa, Lucio, Pastore, Annamaria, Franzé

Publikováno v: Cytogenetic and genome research. 158(1)

Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::104e5ba99cee930381f6936c2bfd4ce2
https://pubmed.ncbi.nlm.nih.gov/31055587

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

Autor: Monica Rienzo, Sandra Iossa, Annamaria Franzè, Elio Marciano, Carla Laria, Pasquale Giannini, Viviana Chinetti, Mario Delfino, Maria De Luca, Alfredo Ciccodicola, Gennaro Auletta

Publikováno v: 149 (2008): 685–688.
info:cnr-pdr/source/autori:Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, Giannini P, Delfino M, Ciccodicola A, Marciano E, Franzé A/titolo:New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma/doi:/rivista:/anno:2008/pagina_da:685/pagina_a:688/intervallo_pagine:685–688/volume:149
American journal of medical genetics. Part A 149A (2009): 685–688. doi:10.1002/ajmg.a.32462
info:cnr-pdr/source/autori:Iossa S.; Chinetti V.; Auletta G.; Laria C.; De Luca M.; Rienzo M.; Giannini P.; Delfino M.; Ciccodicola A.; Marciano E.; Franzé A./titolo:New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma/doi:10.1002%2Fajmg.a.32462/rivista:American journal of medical genetics. Part A/anno:2009/pagina_da:685/pagina_a:688/intervallo_pagine:685–688/volume:149A

The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12b19562b07568060cc6b7c2920ceb0b
https://doi.org/10.1002/ajmg.a.32462

Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme

Autor: Elio Marciano, Viviana Chinetti, Gennaro Auletta, Giorgio Lilli, Pasquale Riccardi, Francesca De Falco, Pasquale Giannini, Sandra Iossa, Maria De Luca, Rita Malesci, Virginia Corvino, Annamaria Franzè

Publikováno v: International journal of audiology (Online) 50(12) (2011): 866–870. doi:10.3109/14992027.2011.603757
info:cnr-pdr/source/autori:Chinetti V, Iossa S, Auletta G, Corvino V, De Luca M, De Falco F, Giannini P, Lilli G, Malesci R, Riccardi P, Marciano E, Franzè A./titolo:Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme/doi:10.3109%2F14992027.2011.603757/rivista:International journal of audiology (Online)/anno:2011/pagina_da:866/pagina_a:870/intervallo_pagine:866–870/volume:50(12)

OBJECTIVE: To determine the incidence of GJB2 and GJB3 mutations and of two deletions upstream of the GJB6 gene in infants of the Campania region of southern Italy. DESIGN: DNA samples from non-syndromic hearing-impaired infants enrolled in a neonata

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8654cf63a967a2dd832319deb6bc6de

Forme ereditarie di ipoacusie neurosensoriali isolate e sindromiche nel bambino

Autor: Annamaria Franzè, Viviana Chinetti, Paolo Gasparini, Pasquale Giannini, Sandra Iossa, Carla Laria, Giorgio Lilli, Rita Malesci, Alessandro Martini, Elio Marciano

Publikováno v: Prospettive in pediatria 39 (2009): 205–209.
info:cnr-pdr/source/autori:Annamaria Franzè; Viviana Chinetti; Paolo Gasparini; Pasquale Giannini; Sandra Iossa; Carla Laria, Giorgio Lilli; Rita Malesci; Alessandro Martini; Elio Marciano/titolo:Forme ereditarie di ipoacusie neurosensoriali isolate e sindromiche nel bambino/doi:/rivista:Prospettive in pediatria/anno:2009/pagina_da:205/pagina_a:209/intervallo_pagine:205–209/volume:39

L'ipoacusia è una delle patologie più diffuse. Si stima infatti che circa 1 su 1000 nati presenta ipoacusia neurosensoriale congenita e che circa il 60% delle ipoacusie neurosensoriali possono attualmente essere attribuite a cause genetiche. Esse s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::2fda069a0e3f4c3eb508eb01c0c88a86
http://www.cnr.it/prodotto/i/63005