Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints
Gervasini, Cristina, Castronovo, Paola, Bentivegna, Angela, Mottadelli, Federica, Faravelli, Francesca, Giovannucci-Uzielli, Maria Luisa, Pessagno, Alice, Lucci-Cordisco, Emanuela, Pinto, Anna Maria, Salviati, Leonardo, Selicorni, Angelo, Tenconi, Romano, Neri, Giovanni, Larizza, Lidia
Published in Genomics (San Diego, Calif.) (01.11.2007)
Published in Genomics (San Diego, Calif.) (01.11.2007)
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Journal Article
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Journal Article
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
Ayoub, Sandy, Ghali, Neeti, Angwin, Chloe, Baker, Duncan, Baffini, Stella, Brady, Angela F., Giovannucci Uzielli, Maria Luisa, Giunta, Cecilia, Johnson, Diana S., Kosho, Tomoki, Neas, Katherine, Pope, F. Michael, Rutsch, Frank, Scarselli, Gloria, Sobey, Glenda, Vandersteen, Anthony, Dijk, Fleur S.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations
Magini, Pamela, Monica, Matteo Della, Uzielli, Maria Luisa Giovannucci, Mongelli, Patrizia, Scarselli, Gloria, Gambineri, Eleonora, Scarano, Gioacchino, Seri, Marco
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Journal Article
Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities
Basinko, Audrey, Giovannucci Uzielli, Maria Luisa, Scarselli, Gloria, Priolo, Manuela, Timpani, Giuseppina, De Braekeleer, Marc
Published in European journal of medical genetics (01.02.2012)
Published in European journal of medical genetics (01.02.2012)
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Journal Article
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
HUBER, Céline, DELEZOIDE, Anee-Lise, CLARK, Robin, COX, Helen, EDERY, Patrick, EDOUARD, Thomas, FANO, Virginia, GIBSON, Kate, GILLESSEN-KAESBACH, Gabriele, GIOVANNUCCI-UZIELLI, Maria-Luisa, MARGARETE GRAUL-NEUMANN, Luitgard, VAN HAGEN, Johana-Maria, GUIMIOT, Fabien, VAN HEST, Liselot, HOROVITZ, Dafne, MELKI, Judith, PARTSCH, Carl-Joachim, PLAUCHU, Henry, RAJAB, Anna, ROSSI, Massimiliano, SILLENCE, David, STEICHEN-GERSDORF, Elisabeth, STEWART, Helen, BAUMANN, Clarisse, UNGER, Sheila, ZENKER, Martin, MUNNICH, Arnold, CORMIER-DAIRE, Valérie, MALAN, Valérie, LE MERRER, Martine, BEZERRA DA SILVA, Daniela, BONNEAU, Dominique, CHATELAIN, Pierre, CHU, Carol
Published in European journal of human genetics : EJHG (01.03.2009)
Published in European journal of human genetics : EJHG (01.03.2009)
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Journal Article
Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families
Goodman, Frances, Giovannucci-Uzielli, Maria-Luisa, Hall, Christine, Reardon, William, Winter, Robin, Scambler, Peter
Published in American journal of human genetics (01.10.1998)
Published in American journal of human genetics (01.10.1998)
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Journal Article
Mutations in the nebulin gene can cause severe congenital nemaline myopathy
Wallgren-Pettersson, Carina, Donner, Kati, Sewry, Caroline, Bijlsma, Emilia, Lammens, Martin, Bushby, Kate, Giovannucci Uzielli, Maria Luisa, Lapi, Elisabetta, Odent, Sylvie, Akcoren, Zuhal, Topaloğlu, Haluk, Pelin, Katarina
Published in Neuromuscular disorders : NMD (01.10.2002)
Published in Neuromuscular disorders : NMD (01.10.2002)
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Journal Article
DHPLC analysis of the MECP2 gene in Italian Rett patients
Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo
Published in Human mutation (01.08.2001)
Published in Human mutation (01.08.2001)
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Journal Article
Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma
Sardi, Iacopo, Giunti, Laura, Donati, Pierarturo, Lacitignola, Laura, Tucci, Fabio, Sardo, Luigi, Giovannucci Uzielli, Maria Luisa, Bernini, Gabriella
Published in Oncology reports (01.05.2003)
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Published in Oncology reports (01.05.2003)
Journal Article
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Journal Article
Detection of a Homozygous Four Base Pair Deletion in the Protein X Gene in a Case of Pyruvate Dehydrogenase Complex Deficiency
Ling, Mingfu, McEachern, Gillian, Seyda, Agnieszka, MacKay, Nevi, Scherer, Stephen W., Bratinova, Sacha, Beatty, Barbara, Luisa Giovannucci-Uzielli, Maria, Robinson, Brian H.
Published in Human molecular genetics (01.03.1998)
Published in Human molecular genetics (01.03.1998)
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Journal Article
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
van den Ouweland, A M, Deelen, W H, Kunst, C B, Uzielli, M L, Nelson, D L, Warren, S T, Oostra, B A, Halley, D J
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
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Journal Article
Identification of mutations in CUL7 in 3-M syndrome
Chemaitilly, Wassim, Santos, Heloisa Dos, Morin, Gilles, Wang, Rong, Huber, Céline, Superti-Furga, Andrea, Mégarbané, André, Gillessen-Kaesbach, Gabriele, Xu, Xinsong, Pearce, Kerra, Brauner, Raja, Cormier-Daire, Valérie, Scambler, Peter J, Munnich, Arnold, Hennekam, Raoul, Dagoneau, Nathalie, Winter, Robin, Dias-Santagata, Dora, Burgt, Ineke Van der, Read, Andrew, Wu, Kenneth, O'Sullivan, James, Glaser, Anna, Clayton, Peter E, Black, Graeme C M, Pan, Zhen-Qiang, Uzielli, Maria Luisa Giovannucci, Merrer, Martine Le
Published in Nature genetics (01.10.2005)
Published in Nature genetics (01.10.2005)
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Journal Article
Analysis of KIT, SCF, and Initial Screening of SLUG in Patients with Piebaldism
Murakami, Tomoko, Hosomi, Naoko, Oiso, Naoki, Giovannucci-Uzielli, Maria Luisa, Aquaron, Robert, Mizoguchi, Masako, Kato, Atsushi, Ishii, Masamitsu, Bitner-Glindzicz, Maria, Barnicoat, Angela, Wilson, Louise, Tsukamoto, Katsuhiko, Ueda, Hiroshi, Mancini, Anthony J., Suzuki, Tamio, Riley, Jacquely, Miertus, Jan, Camargo, Mauricio, Santoro-Zea, Alexandra, Atkin, Joan, Fukai, Kazuyoshi
Published in Journal of investigative dermatology (01.03.2005)
Published in Journal of investigative dermatology (01.03.2005)
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Journal Article
Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system
Ricci, Ugo, Sani, Ilaria, Guarducci, Silvia, Biondi, Cristina, Pelagatti, Sara, Lazzerini, Valentina, Brusaferri, Alessandra, Lapini, Manuela, Andreucci, Elena, Giunti, Laura, Uzielli, Maria Luisa Giovannucci
Published in Electrophoresis (01.11.2000)
Published in Electrophoresis (01.11.2000)
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Journal Article
Analysis of 13 tetrameric short tandem repeat loci in a population of Tuscany (Central Italy) performed by means of an automated infrared sequencer
Ricci, Ugo, Sani, Ilaria, Giunti, Laura, Guarducci, Silvia, Coviello, Silvia, Giovannucci Uzielli, Maria Luisa
Published in Forensic science international (24.01.2002)
Published in Forensic science international (24.01.2002)
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