Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α von Brunetti, G., Papadia, F., Tummolo, A., Fischetto, R., Nicastro, F., Piacente, L., Ventura, A., Mori, G., Oranger, A., Gigante, I., Colucci, S., Ciccarelli, M., Grano, M., Cavallo, L., Delvecchio, M., Faienza, M. F.

Volltext

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients von De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, Zuffardi, O

Volltext

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features von Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G

Volltext

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome von Piccinno, E., Ortolani, F., Vendemiale, M., Tummolo, A., Masciopinto, M., Natale, M.P., De Luca, A., Agolini, E., Aloi, C., Salina, A., D'Annunzio, G., Fischetto, R., Papadia, F.

Volltext

Autosomal Recessive Bestrophinopathy: New Observations on the Retinal Phenotype – Clinical and Molecular Report of an Italian Family von Guerriero, S., Preising, M.N., Ciccolella, N., Causio, F., Lorenz, B., Fischetto, R.

Volltext

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth von Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G.B., Scarano, G., Della Monica, M., Fischetto, R., Grammatico, P., Majore, S., Zampino, G., Memo, L., Cordisco, E. Lucci, Neri, G., Pierluigi, M., Bricarelli, F. Dagna, Grasso, M., Faravelli, Francesca

Volltext

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 von Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni

Volltext

17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence von Bertelloni, S., Balsamo, A., Giordani, L., Fischetto, R., Russo, G., Delvecchio, M., Gennari, M., Nicoletti, A., Maggio, M. C., Concolino, D., Cavallo, L., Cicognani, A., Chiumello, G., Hiort, O., Baroncelli, G. I., Faienza, M. F.

Volltext

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies von Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Luigi Ardissino, Gian, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, 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

Volltext

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders von Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

Volltext

Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 von Tackels-Horne, D, Toburen, A, Sangiorgi, E, Gurrieri, F, De Mollerat, X, Fischetto, R, Causio, F, Clarkson, K, Stevenson, Re, Schwartz, Ce

Volltext

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement von Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D'Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D, Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria

Volltext

X/Y translocation in a family with Leri-Weill dyschondrosteosis von CALABRESE, G, FISCHETTO, R, STUPPIA, L, CAPODIFERRO, F, MINGARELLI, R, CAUSIO, F, ROCCHI, M, RAPPOLD, G. A, PALKA, G

Volltext

Mutations in RNF135 , a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth von Rahman, Nazneen, Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier, Malik, Mohsin, Mansour, Sahar, Reid, Evan, Cormier-Daire, Valerie, Cole, Trevor, Childhood Overgrowth Collaboration, The

Volltext

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis von Palka, G, Stuppia, L, Guanciali Franchi, P, Chiarelli, F, Fischetto, R, Borrelli, P, Giannotti, A, Fioretti, G, Rinaldi, Mm, Mingarelli, R, Rappold, Ga, Calabrese, G

Volltext

Value of triple analyte screening in IVF pregnancies? von Causio, Franco, Leonetti, Teresa, Fischetto, Rita

Volltext

Expanding CEP290 mutational spectrum in ciliopathies von Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

Volltext

Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) von Causio, Franco, Fischetto, Rita, Sarcina, Elena, Geusa, Simona, Tartagni, Massimo

Volltext

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies von Iannicelli, M, Brancati, F, Mougou-Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, G L, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, J G, Attie-Bitach, T, Valente, E M

Volltext

17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence von Bertelloni, S., Balsamo, A., Giordani, L., Fischetto, R., Russo, G., Delvecchio, M., Gennari, M., Nicoletti, A., Maggio, M. C., Concolino, D., Cavallo, L., Cicognani, A., Chiumello, G., Hiort, O., Baroncelli, G. I., Faienza, M. F.

Volltext