Legius Syndrome in Fourteen Families

por Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric
Publicado 2011

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

por Barragán, Isabel, Borrego, Salud, Pieras, Juan Ignacio, Pozo, María González-del, Santoyo, Javier, Ayuso, Carmen, Baiget, Montserrat, Millan, José M, Mena, Marcela, El-Aziz, Mai M Abd, Audo, Isabelle, Zeitz, Christina, Littink, Karin W, Dopazo, Joaquín, Bhattacharya, Shomi S, Antiñolo, Guillermo
Publicado 2010

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

por Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, Meersschaut, Valérie, Walraedt, Sophie, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Publicado 2010

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

por Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nürnberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nürnberg, Peter, Rutsch, Frank
Publicado 2010

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

por Horn, Denise, Kapeller, Johannes, Rivera-Brugués, Núria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P, Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R, Franke, Andre, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva, Rappold, Gudrun A, Strom, Tim M
Publicado 2010

A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization

por Molatore, Sara, Marinoni, Ilaria, Lee, Misu, Pulz, Elke, Ambrosio, Maria Rosaria, Uberti, Ettore C degli, Zatelli, Maria Chiara, Pellegata, Natalia S
Publicado 2010

Adenine DNA Glycosylase Activity of 14 Human MutY Homolog (MUTYH) Variant Proteins Found in Patients with Colorectal Polyposis and Cancer

por Goto, Masanori, Shinmura, Kazuya, Nakabeppu, Yusaku, Tao, Hong, Yamada, Hidetaka, Tsuneyoshi, Toshihiro, Sugimura, Haruhiko
Publicado 2010

Evaluating Self-declared Ancestry of U.S. Americans with Autosomal, Y-chromosomal and Mitochondrial DNA

por Lao, Oscar, Vallone, Peter M, Coble, Michael D, Diegoli, Toni M, van Oven, Mannis, van der Gaag, Kristiaan J, Pijpe, Jeroen, de Knijff, Peter, Kayser, Manfred
Publicado 2010

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

por Hilhorst-Hofstee, Yvonne, Rijlaarsdam, Marry EB, Scholte, Arthur JHA, Swart-van den Berg, Marietta, Versteegh, Michel IM, van der Schoot-van Velzen, Iris, Schäbitz, Hans-Joachim, Bijlsma, Emilia K, Baars, Marieke J, Kerstjens-Frederikse, Wilhelmina S, Giltay, Jacques C, Hamel, Ben C, Breuning, Martijn H, Pals, Gerard
Publicado 2010

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

por Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Publicado 2010

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update

por Nuytemans, Karen, Theuns, Jessie, Cruts, Marc, Van Broeckhoven, Christine
Publicado 2010

A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer

por Wang, Kai Jie, Wang, Sha, Cao, Ni-Qian, Yan, Yong-Bin, Zhu, Si Quan
Publicado 2011

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

por Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques-Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean-Pierre
Publicado 2010

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

por Nagasaki, Keisuke, Usui, Takeshi, Asami, Tadashi, Ogawa, Yohei, Kikuchi, Toru, Uchiyama, Makoto
Publicado 2009

A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2)

por Jo, Wakako, Fujieda, Kenji, Tajima, Toshihiro
Publicado 2010

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

por Nakamura, Akie, Hostubo, Tomoyuki, Jo, Wakako, Ishizu, Katsura, Tajima, Toshihiro
Publicado 2011

A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene

por Ikemoto, Satoru, Sakurai, Ken, Kuwashima, Naruo, Saito, Yoshihiro, Miyata, Ichiro, Katsumata, Noriyuki, Ida, Hiroyuki
Publicado 2012

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)

por Jo, Wakako, Sano, Hitomi, Sudo, Akira, Matsunami, Yukiko, Kawamura, Nobuaki, Tajima, Toshihiro
Publicado 2012

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

por Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique
Publicado 2013

A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome

por Yamamoto, Sayaka, Okuhara, Koji, Tonoki, Hidefumi, Iizuka, Susumu, Nihei, Noriko, Tajima, Toshihiro
Publicado 2013