Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Veronica Ileana Guerci"'
Autor:
Paolo Gasparini, Marcello Morgutti, Massimiliano Bicego, Veronica Ileana Guerci, Domenico Leonardo Grasso, Antonio Amoroso, Paola D'Andrea
Publikováno v:
Audiological Medicine. 5:200-206
Mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of several GJB2 mutations in causing hereditary deafness remains controversial. By combining ge
Autor:
Veronica Ileana Guerci, Maja Ukmar, Elisabetta Cattaruzzi, Paolo Di Emidio, Raffaella De Vescovi, Domenico Leonardo Grasso, Elisabetta Zocconi
Publikováno v:
International Journal of Pediatric Otorhinolaryngology Extra. 1:138-141
Summary Fibrous dysplasia is a rare, benign disease even though clinical picture may assume severe aspects. It presents a progressive replacement of normal bone structures by fibrous tissue which can involve one or more bone segments and, in some cas
Autor:
Kristien Hoornaert, Maryse Bonduelle, Frits A. Beemer, Kristi J. Jones, Jenneke van den Ende, Orit Reish, Carlo Marcelis, S. Kjaergaard, Gabrielli Orazio, Kristina Lagerstedt, Bart P. Leroy, Hélène Dollfus, Odile Boute, Anne De Paepe, Yolande H. Kroes, Véronique Paquis, Johanna M. van Hagen, Sarah F. Smithson, Kalle O. J. Simola, Chantal Dewinter, Martine Lemerrer, Raoul C.M. Hennekam, Yolande van Bever, Michèle Mathieu, Erik Björck, Muriel Holder, Laila Bendix, Christine E. M. de Die-Smulders, Leopoldo Zelante, Mariet W. Elting, Carel B. Hoyng, Angela Mendicino, Inge Vereecke, Karen Temple, Cinzia Magnani, Marc De Buyzere, Anne Dieux-Coeslier, Ilkka Kaitila, Elisabeth Van Aken, Riina Zordania, Veronica Ileana Guerci, Loreto Martorell, Thomas Rosenberg, Dragana Josifova, Yvonne Hilhorts-Hofstee, Andrew Green, Meriel McEntagart, Melissa Lees, Jules G. Leroy, Jenny Morton, Paul Coucke, Valérie Cormier-Daire, Geert Mortier
Publikováno v:
Hoornaert, K P, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, F A, Leroy, J G, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dollfus, H, Elting, M, Green, A, Guerci, V I, Hennekam, R C M, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, K J, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, Y H, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, K O J, Smithson, S F, Temple, K I, Van Aken, E, van Bever, Y, van der Ende, J, van Hagen, J M, Zelante, L, Zordania, R, De Paepe, A, Leroy, B P, de Buyzere, M, Coucke, P J & Mortier, G R 2010, ' Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients ', European Journal of Human Genetics, vol. 18, no. 8, pp. 872-880 . https://doi.org/10.1038/ejhg.2010.23
European Journal of Human Genetics, 18, 8, pp. 872-80
European Journal of Human Genetics, 18(8), 872-880. Nature Publishing Group
European journal of human genetics
Vrije Universiteit Brussel
European Journal of Human Genetics, 18, 872-80
European journal of human genetics, 18(8), 872-880. Nature Publishing Group
European Journal of Human Genetics, 18, 8, pp. 872-80
European Journal of Human Genetics, 18(8), 872-880. Nature Publishing Group
European journal of human genetics
Vrije Universiteit Brussel
European Journal of Human Genetics, 18, 872-80
European journal of human genetics, 18(8), 872-880. Nature Publishing Group
Contains fulltext : 89172.pdf (Publisher’s version ) (Closed access) Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::180afca07f39f87670a3a37fd42f83f5
https://research.vumc.nl/en/publications/b8088600-2a96-4ef4-a89a-a0cf75cbb36c
https://research.vumc.nl/en/publications/b8088600-2a96-4ef4-a89a-a0cf75cbb36c
Autor:
Domenico Leonardo Grasso, Antonella Fabretto, Luca Ronfani, Elisabetta Zocconi, Flavio Faletra, Despina Stefanidou, Veronica Ileana Guerci, Marcella Montico, Pierpaolo Guastalla, Pio D'Adamo, Marcello Morgutti, Paolo Gasparini
To measure epidermal thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff559da901559b4e49c4d810dbe77e8
https://hdl.handle.net/11368/2615636
https://hdl.handle.net/11368/2615636
Autor:
Pio D'Adamo, Pierpaolo Guastalla, Flavio Faletra, Paolo Gasparini, Luca Ronfani, Marcello Morgutti, Domenico Leonardo Grasso, Marcella Montico, Antonella Fabretto, Veronica Ileana Guerci
In the post-human-genome area, the challenge is to derive details of heritable variation in relation to how human variation reflects adaptation to the different environments. Heterozygote advantage represents a superior genetic adaptation presumably
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f563e084aee251bae398972ce18adfaa
http://www.ncbi.nlm.nih.gov/pubmed/19050724
http://www.ncbi.nlm.nih.gov/pubmed/19050724
Autor:
Michele Milanese, Domenico Leonardo Grasso, Ludovica Segat, Veronica Ileana Guerci, Elisabetta Zocconi, Sergio Crovella
Publikováno v:
International journal of pediatric otorhinolaryngology. 71(7)
We investigated the role of the polymorphisms in the first exon of MBL2 gene in the susceptibility to recurrent tonsillitis in a selected group of Italian children and healthy controls. Significant difference has been observed in MBL2 genotype and al
Autor:
Orsetta Zuffardi, David A. Koolen, Klaske D. Lichtenbelt, Bert B.A. de Vries, Susan Moloney, Joris A. Veltman, Arjan P.M. de Brouwer, Daniela Luciano, Bregje W.M. van Bon, Louise Brueton, Nicole de Leeuw, Rolph Pfundt, Leonardo Zoccante, Lesley C. Adès, Kate Gibson, Francesca Novara, F. Piazza, Dominic J. McMullan, Han G. Brunner, Bernardo Dalla Bernardina, Veronica Ileana Guerci, Marleen Kets, Marco Fichera, Tiziano Pramparo, Jayne Antony, Meredith Wilson, Vanna Pecile, Umberto Balottin, Gregory Peters, Paolo Gasparini, Corrado Romano, Santina Reitano
Publikováno v:
European Journal of Human Genetics. 18:1171-1171
Correction to: European Journal of Human Genetics (2010) 18, 163–170; doi:10.1038/ejhg.2009.152; published online 7 October 2009 Since the publication of the above paper, the authors noticed that the affiliation of Umberto Balottin and Fausta Piazz
Autor:
Jenneke van den Ende, Ilkka Kaitila, Anne Dieux-Coeslier, Christine E. M. de Die-Smulders, Bart P. Leroy, Orit Reish, Yolande H. Kroes, Jenny Morton, Carlo Marcelis, Gabrielli Orazio, Kristina Lagerstedt, Yolande van Bever, Mariet W. Elting, Carel B. Hoyng, Melissa Lees, Martine Lemerrer, Karen Temple, Veronica Ileana Guerci, Paul Coucke, Thomas Rosenberg, Kristien Hoornaert, Kristi J. Jones, Marc De Buyzere, Valérie Cormier-Daire, Jules G. Leroy, Sarah F. Smithson, Riina Zordania, S. Kjaergaard, Odile Boute, Laila Bendix, Inge Vereecke, Leopoldo Zelante, Chantal Dewinter, Johanna M. van Hagen, Cinzia Magnani, Muriel Holder, Véronique Paquis, Erik Björck, Hélène Dollfus, Kalle O. J. Simola, Angela Mendicino, Yvonne Hilhorts-Hofstee, Michèle Mathieu, Maryse Bonduelle, Frits A. Beemer, Anne De Paepe, Meriel McEntagart, Raoul C.M. Hennekam, Elisabeth Van Aken, Dragana Josifova, Andrew Green, Geert Mortier, Loreto Martorell
Publikováno v:
European Journal of Human Genetics. 18:881-881
Autor:
Vanna Pecile, Bert B.A. de Vries, Tiziano Pramparo, Gregory Peters, Daniela Luciano, Jayne Antony, Lesley C. Adès, Rolph Pfundt, Orsetta Zuffardi, Nicole de Leeuw, Dominic J. McMullan, Han G. Brunner, Marleen Kets, Meredith Wilson, Leonardo Zoccante, Klaske D. Lichtenbelt, Francesca Novara, Paolo Gasparini, Arjan P.M. de Brouwer, Joris A. Veltman, Bregje W.M. van Bon, Kate Gibson, Louise Brueton, Veronica Ileana Guerci, Marco Fichera, Bernardo Dalla Bernardina, F. Piazza, Santina Reitano, David A. Koolen, Umberto Balottin, Corrado Romano
Publikováno v:
European Journal of Human Genetics. 18:170-170
Correction to: European Journal of Human Genetics advance online publication 7 October 2009; doi: 10.1038/ejhg.2009.152 Since the publication of the above paper, the authors noticed a co-author was missing from the authors’ list: Dr Susan Moloney,