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by Chiò, Adriano and Borghero, Giuseppe and Restagno, Gabriella and Mora, Gabriele and Drepper, Carsten and Traynor, Bryan J and Sendtner, Michael and Brunetti, Maura and Ossola, Irene and Calvo, Andrea and Pugliatti, Maura and Sotgiu, Maria Alessandra and Murru, Maria Rita and Marrosu, Maria Giovanna and Marrosu, Francesco and Marinou, Kalliopi and Mandrioli, Jessica and Sola, Patrizia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and La Bella, Vincenzo and Spataro, Rossella and Conte, Amelia and Monsurrò, Maria Rosaria and Tedeschi, Gioacchino and Pisano, Fabrizio and Bartolomei, Ilaria and Salvi, Fabrizio and Lauria Pinter, Giuseppe and Simone, Isabella and Logroscino, Giancarlo and Gambardella, Antonio and Quattrone, Aldo and Lunetta, Christian and Volanti, Paolo and Zollino, Marcella and Penco, Silvana and Battistini, Stefania and Renton, Alan E and Majounie, Elisa and Abramzon, Yevgeniya and Conforti, Francesca Luisa and Giannini, Fabio and Corbo, Massimo and Sabatelli, Mario and Moglia, Cristina and Cammarosano, Stefania and Fuda, Giuseppe and Canosa, Antonio and Gallo, Sara and Papetti, Laura and Luigetti, Marco and Lattante, Serena and Marangi, Giuseppe and Colletti, Tiziana and Ricci, Claudia and Origone, Paola and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Parish, Leslie D and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Izzo, Francesco and Laiola, Anna and Trojsi, Francesca and ITALSGEN Consortium and ITALSGEN consortium and the ITALSGEN consortium
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 3, pp. 784 - 793
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Medicine, ISSN 0025-7974, 08/2018, Volume 97, Issue 32, p. e11328
Rationale:Supernumerary teeth are those that teeth in excess number than the normal count. It is usually associated with genetic syndromes when present in more... 
DYSOSTOSIS | OSTEOBLAST DIFFERENTIATION | supernumerary teeth | GENOTYPE | cleidocranial dysplasia | PHENOTYPE | RUNX2 | MEDICINE, GENERAL & INTERNAL | GENE | TRANSACTIVATION | PATIENT | DOMAINS | OSF2/CBFA1 | phenotype-genotype correlation | Usage | Dysplasia | Transcription factors | Gene mutations | Teeth | Genetic aspects | Nucleotide sequencing | Diagnosis | Research | Health aspects | DNA sequencing
Journal Article
Fertility and Sterility, ISSN 0015-0282, 01/2019, Volume 111, Issue 1, pp. 24 - 29
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. The... 
mutations | CAH | CYP21A2 | phenotype-genotype association | REPRODUCTIVE BIOLOGY | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY
Journal Article