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S

Silvia Majore

san camillo-forlanini hospital
H指数:22
被引数:1,831

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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

神经纤维瘤病1型相关乳腺癌的亚型分布、临床特征及分子谱

The Breast
IF0
2025-10-220
OAAI
Niccolò Di Giosaffatte; Paola Daniele; Francesco Petrizzelli; Chiara Iacovino; Chiara Canciani; Maria Luisa Garau; Claudia Santoro; Valentina Trevisan; Arianna Panfili; Stefania Cavone; Valentina Guida; Maria Cecilia D’Asdia; Laura Bernardini; Silvia Majore; Alessandro Ferraris; Michele Valiante; Francesca Gensini; Francesca Clementina Radio; Giada Tortora; Matteo Cassina; Giuseppina Miele; Manuela Priolo; Fabio Sirchia; Ludovica Piccinno; Elisabetta Flex; Giuseppe Zampino; Maurizio Genuardi; Vincenzo Nigro; Leonardo Salviati; Laura Papi; Paola Grammatico; Chiara Leoni; Giulio Piluso; Sandra Giustini; Tommaso Mazza; Meena Upadhyaya; Marco Tartaglia; Eva Trevisson; Alessandro De Luca
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)
GENETICS IN MEDICINE
IF6.2
2023-11-011
OA
Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
GENETICS IN MEDICINE
IF6.2
2023-10-012
PRE
Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
HUMAN GENETICS
IF3.6
2023-04-203
PRE
Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Buse, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolo; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco
Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis
HUMAN MUTATION
IF3.7
2011-12-2289
PREAI
Gribouval, Olivier; Moriniere, Vincent; Pawtowski, Audrey; Arrondel, Christelle; Sallinen, Satu-Leena; Saloranta, Carola; Clericuzio, Carol; Viot, Geraldine; Tantau, Julia; Blesson, Sophie; Cloarec, Sylvie; Machet, Marie Christine; Chitayat, David; Thauvin, Christelle; Laurent, Nicole; Sampson, Julian R.; Bernstein, Jonathan A.; Clemenson, Alix; Prieur, Fabienne; Daniel, Laurent; Levy-Mozziconacci, Annie; Lachlan, Katherine; Alessandri, Jean Luc; Cartault, Francois; Riviere, Jean Pierre; Picard, Nicole; Baumann, Clarisse; Delezoide, Anne Lise; Belar Ortega, Maria; Chassaing, Nicolas; Labrune, Philippe; Yu, Sui; Firth, Helen; Wellesley, Diana; Bitzan, Martin; Alfares, Ahmed; Braverman, Nancy; Krogh, Lotte; Tolmie, John; Gaspar, Harald; Doray, Berenice; Majore, Silvia; Bonneau, Dominique; Triau, Stephane; Loirat, Chantal; David, Albert; Bartholdi, Deborah; Peleg, Amir; Brackman, Damien; Stone, Rosario; DeBerardinis, Ralph; Corvol, Pierre; Michaud, Annie; Antignac, Corinne; Gubler, Marie Claire
Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
HUMAN MUTATION
IF3.7
2010-01-0185
OAAI
Iannicelli, Miriam; Brancati, Francesco; Mougou-Zerelli, Soumaya; Mazzotta, Annalisa; Thomas, Sophie; Elkhartoufi, Nadia; Travaglini, Lorena; Gomes, Celine; Ardissino, Gian Luigi; Bertini, Enrico; Boltshauser, Eugen; Castorina, Pierangela; D'Arrigo, Stefano; Fischetto, Rita; Leroy, Brigitte; Loget, Philippe; Bonniere, Maryse; Starck, Lena; Tantau, Julia; Gentilin, Barbara; Majore, Silvia; Swistun, Dominika; Flori, Elizabeth; Lalatta, Faustina; Pantaleoni, Chiara; Penzien, Johannes; Grammatico, Paola; Dallapiccola, Bruno; Gleeson, Joseph G.; Attie-Bitach, Tania; Valente, Enza Maria
Schimke immunoosseous dysplasia: defining skeletal features
EUROPEAN JOURNAL OF PEDIATRICS
IF2.6
2009-12-1520
OAAI
Hunter, Kshamta B.; Luecke, Thomas; Spranger, Juergen; Smithson, Sarah F.; Alpay, Harika; Andre, Jean-Luc; Asakura, Yumi; Bogdanovic, Radovan; Bonneau, Dominique; Cairns, Robyn; Cransberg, Karlien; Fruend, Stefan; Fryssira, Helen; Goodman, David; Helmke, Knut; Hinkelmann, Barbara; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Mayfield, Christy; Pontz, Bertram F.; Rusu, Cristina; Saraiva, Jorge M.; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Stajic, Natasa; Taha, Doris; Boerkoel, Cornelius F.
Schimke immunoosseous dysplasia:: Suggestions of genetic diversity
HUMAN MUTATION
IF3.7
2007-03-0152
OAAI
Clewing, J. Marietta; Fryssira, Helen; Goodman, David; Smithson, Sarah F.; Sloan, Emily A.; Lou, Shu; Huang, Yan; Chow, Kunho; Luecke, Thomas; Alpay, Harika; Andre, Jean-Luc; Asakura, Yumi; Biebuyck-Gouge, Nathalie; Bogdanovic, Radovan; Bonneau, Dominique; Cancrini, Caterina; Cochat, Pierre; Cockfield, Sandra; Collard, Laure; Cordeiro, Isabel; Cormier-Daire, Valerie; Cransberg, Karlien; Cutka, Karel; Deschenes, Georges; Ehrich, Jochen H. H.; Frund, Stefan; Georgaki, Helen; Guillen-Navarro, Encarna; Hinkelmann, Barbara; Kanariou, Maria; Kasap, Belde; Kilic, Sara Sebnem; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Milford, David; Morin, Denis; Ozdemir, Nihal; Pontz, Bertram F.; Proesmans, Willem; Psoni, Stavroula; Reichenbach, Herbert; Reif, Silke; Rusu, Cristina; Saraiva, Jorge M.; Sakallioglu, Onur; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Smith, Graham; Sotsiou, Flora; Stajic, Natasa; Stein, Anja; Stray-Pedersen, Asbjorg; Taha, Doris; Taque, Sophie; Tizard, Jane; Tsimaratos, Michel; Wong, Newton A. C. S.; Boerkoel, Cornelius F.

研究方向

暂未获取到该数据
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Paola Grammatico
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Francesco Binni
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A
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E
Emanuele Agolini
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B
Bruno Dallapiccola
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D
Dominique Bonneau
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E
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H 指数:35论文数:169被引数:5,176
A
Alessandro Ferraris
H 指数:30论文数:106被引数:3,182
P
Paola De Simone
H 指数:17论文数:53被引数:1,000
C
Chantal Loirat
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