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ArticlesPeer ReviewedFull Text
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
Author / Creator:Negrisolo, Susanna ; Carraro, Andrea ; Fregonese, Giulia ; Benetti, Elisa ; Schaefer, Franz ; Alberti, Marta ; Melchionda, Salvatore ; Fischetto, Rita ; Giordano, Mario ; Murer, Luisa
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1708-1712
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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis
Author / Creator:Melchionda, Salvatore ; Palladino, Teresa ; Castellana, Stefano ; Giordano, Mario ; Benetti, Elisa ; De Bonis, Patrizia ; Zelante, Leopoldo ; Bisceglia, Luigi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-09, Vol.61 (9), p.811-821
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Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family
Author / Creator:Ortore, Rocco Pio ; Leone, Maria Pia ; Palumbo, Orazio ; Petracca, Antonio ; Trecca, Eleonora M. C. ; D’Ecclesia, Aurelio ; Vigliaroli, Ciro Lucio ; Micale, Lucia ; Longo, Francesco ; Melchionda, Salvatore ; Castori, Marco
Publisher:Basel: MDPI AG
Journal title:Audiology research (Pavia, Italy), 2021-09, Vol.11 (3), p.443-451
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ArticlesPeer ReviewedFull Text
Connexin-26 mutations in sporadic and inherited sensorineural deafness
Author / Creator:Estivill, Xavier ; Fortina, Paolo ; Surrey, Saul ; Rabionet, Raquel ; Melchionda, Salvatore ; D'Agruma, Leonardo ; Mansfield, Elaine ; Rappaport, Eric ; Govea, Nancy ; Milà, Montse ; Zelante, Leopoldo ; Gasparini, Paolo
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 1998-02, Vol.351 (9100), p.394-398
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ArticlesPeer ReviewedFull Text
High carrier frequency of the 35delG deafness mutation in European populations
Author / Creator:Gasparini, Paolo ; Rabionet, Raquel ; Barbujani, Guido ; Melchionda, Salvatore ; Petersen, Michael ; Brøndum-Nielsen, Karen ; Metspalu, Andres ; Oitmaa, Eneli ; Pisano, Marina ; Fortina, Paolo ; Zelante, Leopoldo ; Estivill, Xavier
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2000-01, Vol.8 (1), p.19-23
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ArticlesPeer ReviewedFull Text
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
Author / Creator:Jacobs, Howard T ; Hutchin, Timothy P ; Käppi, Timo ; Gillies, Greta ; Minkkinen, Kia ; Walker, John ; Thompson, Karen ; Rovio, Anja T ; Carella, Massimo ; Melchionda, Salvatore ; Zelante, Leopoldo ; Gasparini, Paolo ; Pyykkö, Ilmari ; Shah, Zahid H ; Zeviani, Massimo ; Mueller, Robert F
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.26-33
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ArticlesPeer ReviewedFull Text
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
Author / Creator:Rabionet, R. ; Zelante, L. ; López-Bigas, N. ; D'Agruma, L. ; Melchionda, S. ; Restagno, G. ; Arbonés, M.L. ; Gasparini, P. ; Estivill, X.
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2000-01, Vol.106 (1), p.40-44
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ArticlesPeer ReviewedFull Text
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
Author / Creator:López-Bigas, Núria ; Melchionda, Salvatore ; Gasparini, Paolo ; Borragán, Alfonso ; Arbonés, Maria Lourdes ; Estivill, Xavier
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2002-04, Vol.19 (4), p.458-458
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ArticlesPeer ReviewedFull Text
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families: Mutations in Brief
Author / Creator:López-Bigas, Núria ; Melchionda, Salvatore ; Gasparini, Paolo ; Borragán, Alfonso ; Arbonés, Maria Lourdes ; Estivill, Xavier
Journal title:Human mutation, 2002-04, Vol.19 (4), p.458-458
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ArticlesPeer ReviewedFull Text
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family
Author / Creator:D'Adamo, Pio ; Donaudy, Francesca ; D'Eustacchio, Angela ; Di Iorio, Enzo ; Melchionda, Salvatore ; Gasparini, Paolo
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.121-124
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Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

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Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

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High carrier frequency of the 35delG deafness mutation in European populations

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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

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A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

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A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families: Mutations in Brief

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A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family

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