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9 results for Baorda,+Filomena

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ArticlesPeer ReviewedFull Text
Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
Author / Creator:Guarnieri, Vito ; Seaberg, Raewyn M. ; Kelly, Catherine ; Jean Davidson, M. ; Raphael, Simon ; Shuen, Andrew Y. ; Baorda, Filomena ; Palumbo, Orazio ; Scillitani, Alfredo ; Hendy, Geoffrey N. ; Cole, David E. C.
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2017-08, Vol.18 (1), p.83-83, Article 83
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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene
Author / Creator:Pazienza, Valerio ; la Torre, Annamaria ; Baorda, Filomena ; Alfarano, Michela ; Chetta, Massimiliano ; Muscarella, Lucia Anna ; Battista, Claudia ; Copetti, Massimiliano ; Kotzot, Dieter ; Kapelari, Klaus ; Al-Abdulrazzaq, Dalia ; Perlman, Kusiel ; Sochett, Etienne ; Cole, David E. C. ; Pellegrini, Fabio ; Canaff, Lucie ; Hendy, Geoffrey N. ; D’Agruma, Leonardo ; Zelante, Leopoldo ; Carella, Massimo ; Scillitani, Alfredo ; Guarnieri, Vito
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-12, Vol.8 (12), p.e82292-e82292
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Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
Author / Creator:Guarnieri, Vito ; Seaberg, Raewyn M. ; Kelly, Catherine ; Jean Davidson, M. ; Raphael, Simon ; Shuen, Andrew Y. ; Baorda, Filomena ; Palumbo, Orazio ; Scillitani, Alfredo ; Hendy, Geoffrey N. ; Cole, David E.C.
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2017-09, Vol.18 (1), p.99-99, Article 99
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Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
Author / Creator:Savino, Maria ; d'Apolito, Maria ; Formica, Vincenza ; Baorda, Filomena ; Mari, Francesca ; Renieri, Alessandra ; Carabba, Enrico ; Tarantino, Enrico ; Andreucci, Elena ; Belli, Serena ; Muzio, Lorenzo Lo ; Dallapiccola, Bruno ; Zelante, Leopoldo ; Savoia, Anna
Journal title:Human mutation, 2004-11, Vol.24 (5), p.441-441
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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
Author / Creator:Cinque, Luigia ; Sparaneo, Angelo ; Penta, Laura ; Mencarelli, Amedea ; Rogaia, Daniela ; Esposito, Susanna ; Fabrizio, Federico Pio ; Baorda, Filomena ; Verrotti, Alberto ; Falorni, Alberto ; Stangoni, Gabriela ; Hendy, Geoffrey N ; Guarnieri, Vito ; Prontera, Paolo
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2017-11, Vol.102 (11), p.3961-3969
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Erratum to: Large intragenic deletion of CDC73 syndrome family
Author / Creator:Guarnieri, Vito ; Seaberg, Raewyn M ; Kelly, Catherine ; Jean Davidson, M ; Raphael, Simon ; Shuen, Andrew Y ; Baorda, Filomena ; Palumbo, Orazio ; Scillitani, Alfredo ; Hendy, Geoffrey N ; Cole, David E.C
Publisher:BioMed Central Ltd
Journal title:BMC medical genetics, 2017-09, Vol.18 (1)
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A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
Author / Creator:Mastromatteo, Eugenio ; Lamacchia, Olga ; Campo, Michela Rosaria ; Conserva, Antonella ; Baorda, Filomena ; Cinque, Luigia ; Guarnieri, Vito ; Scillitani, Alfredo ; Cignarelli, Mauro
Publisher:England: BioMed Central Ltd
Journal title:BMC endocrine disorders, 2014-10, Vol.14 (1), p.81-81, Article 81
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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene: e82292
Author / Creator:Pazienza, Valerio ; Torre, Annamaria la ; Baorda, Filomena ; Alfarano, Michela ; Chetta, Massimiliano ; Muscarella, Lucia Anna ; Battista, Claudia ; Copetti, Massimiliano ; Kotzot, Dieter ; Kapelari, Klaus
Journal title:PloS one, 2013-12, Vol.8 (12)
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Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
Author / Creator:Savino, Maria ; d'Apolito, Maria ; Formica, Vincenza ; Baorda, Filomena ; Mari, Francesca ; Renieri, Alessandra ; Carabba, Enrico ; Tarantino, Enrico ; Andreucci, Elena ; Belli, Serena ; Muzio, Lorenzo Lo ; Dallapiccola, Bruno ; Zelante, Leopoldo ; Savoia, Anna
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-11, Vol.24 (5), p.441-441
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Access ebook if you are in the Library. Registered NSW residents may log in from home.

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Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

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Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

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Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles

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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

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Erratum to: Large intragenic deletion of CDC73 syndrome family

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A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene: e82292

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Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles

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