Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 5

Results: 22

The value of countrywide mutation reporting.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. v, doi. 10.1002/humu.21262

By:

Cotton, Richard G.H.

Publication type:

Article

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 505, doi. 10.1002/humu.21232

By:

Al-Gazali, Lihadh;
Ali, Bassam R.

Publication type:

Article

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1390, doi. 10.1002/humu.21243

By:

De Falco, Luigia;
Totaro, Francesca;
Nai, Antonella;
Pagani, Alessia;
Girelli, Domenico;
Silvestri, Laura;
Piscopo, Carmelo;
Campostrini, Natascia;
Dufour, Carlo;
Manjomi, Fahd AL;
Minkov, Milen;
Van Vuurden, Dennis G.;
Feliu, Aurora;
Kattamis, Antonis;
Camaschella, Clara;
Iolascon, Achille

Publication type:

Article

Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 561, doi. 10.1002/humu.21225

By:

Tan, Eng-King;
Peng, Rong;
Teo, Yik-Ying;
C. Tan, Louis;
Angeles, Dario;
Ho, Patrick;
Chen, Meng-Ling;
Lin, Chin-Hsien;
Mao, Xue-Ye;
Chang, Xue-Li;
Prakash, Kumar M;
Liu, Jian-Jun;
Au, Wing-Lok;
Le, Wei-Dong;
Jankovic, Joseph;
Burgunder, Jean-Marc;
Zhao, Yi;
Wu, Ruey-Meei

Publication type:

Article

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236

By:

Towns, Katherine V.;
Kipioti, Athina;
Long, Vernon;
McKibbin, Martin;
Maubaret, Cecilia;
Vaclavik, Veronika;
Ehsani, Parastoo;
Springell, Kelly;
Kamal, Mohammed;
Ramesar, Raj S.;
Mackey, David A.;
Moore, Anthony T.;
Mukhopadhyay, Rajarshi;
Webster, Andrew R.;
Black, Graeme C.M.;
O'Sullivan, James;
Bhattacharya, Shomi S.;
Pierce, Eric A.;
Beggs, Jean D.;
Inglehearn, Chris F.

Publication type:

Article

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 578, doi. 10.1002/humu.21229

By:

van der Klift, Heleen M.;
Tops, Carli M.J.;
Bik, Elsa C.;
Boogaard, Merel W.;
Borgstein, Anne-Marijke;
Hansson, Kerstin B.M.;
Ausems, Margreet G.E.M.;
Garcia, Encarna Gomez;
Green, Andrew;
Hes, Frederik J.;
Izatt, Louise;
van Hest, Liselotte P.;
Alonso, Angel M.;
Vriends, Annette H.J.T.;
Wagner, Anja;
van Zelst-Stams, Wendy A.G.;
Vasen, Hans F.A.;
Morreau, Hans;
Devilee, Peter;
Wijnen, Juul T.

Publication type:

Article

The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 538, doi. 10.1002/humu.21220

By:

Bi, Rui;
Zhang, A-Mei;
Zhang, Wen;
Kong, Qing-Peng;
Wu, Bei-Ling;
Yang, Xiao-Hong;
Wang, Dong;
Zou, Yang;
Zhang, Ya-Ping;
Yao, Yong-Gang

Publication type:

Article

Jagged1 ( JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 594, doi. 10.1002/humu.21231

By:

Bauer, Robert C.;
Laney, Ayanna O.;
Smith, Rosemarie;
Gerfen, Jennifer;
Morrissette, Jennifer J.D.;
Woyciechowski, Stacy;
Garbarini, Jennifer;
Loomes, Kathleen M.;
Krantz, Ian D.;
Urban, Zsolt;
Gelb, Bruce D.;
Goldmuntz, Elizabeth;
Spinner, Nancy B.

Publication type:

Article

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 544, doi. 10.1002/humu.21224

By:

Ruemmele, Frank M.;
Müller, Thomas;
Schiefermeier, Natalia;
Ebner, Hannes L.;
Lechner, Silvia;
Pfaller, Kristian;
Thöni, Cornelia E.;
Goulet, Olivier;
Lacaille, Florence;
Schmitz, Jacques;
Colomb, Virginie;
Sauvat, Frédérique;
Revillon, Yann;
Canioni, Danielle;
Brousse, Nicole;
de Saint-Basile, Genevieve;
Lefebvre, Juliette;
Heinz-Erian, Peter;
Enninger, Axel;
Utermann, Gerd

Publication type:

Article

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA<sub>1</sub>α in autosomal recessive hypotrichosis.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 602, doi. 10.1002/humu.21235

By:

Shinkuma, Satoru;
Akiyama, Masashi;
Inoue, Asuka;
Aoki, Junken;
Natsuga, Ken;
Nomura, Toshifumi;
Arita, Ken;
Abe, Riichiro;
Ito, Kei;
Nakamura, Hideki;
Ujiie, Hideyuki;
Shibaki, Akihiko;
Suga, Hiraku;
Tsunemi, Yuichiro;
Nishie, Wataru;
Shimizu, Hiroshi

Publication type:

Article

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 569, doi. 10.1002/humu.21228

By:

Luoma, Leiah M.;
Deeb, Taha M.M.;
Macintyre, Georgina;
Cox, Diane W.

Publication type:

Article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1319, doi. 10.1002/humu.21239

By:

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

Publication type:

Article

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 588, doi. 10.1002/humu.21230

By:

Vaughn, Cecily P.;
Robles, Jorge;
Swensen, Jeffrey J.;
Miller, Christine E.;
Lyon, Elaine;
Mao, Rong;
Bayrak-Toydemir, Pinar;
Samowitz, Wade S.

Publication type:

Article

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1377, doi. 10.1002/humu.21241

By:

DeJesus-Hernandez, Mariely;
Kocerha, Jannet;
Finch, NiCole;
Crook, Richard;
Baker, Matt;
Desaro, Pamela;
Johnston, Amelia;
Rutherford, Nicola;
Wojtas, Aleksandra;
Kennelly, Kathleen;
Wszolek, Zbigniew K.;
Graff-Radford, Neill;
Boylan, Kevin;
Rademakers, Rosa

Publication type:

Article

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 552, doi. 10.1002/humu.21223

By:

Ganster, Christina;
Wernstedt, Annekatrin;
Kehrer-Sawatzki, Hildegard;
Messiaen, Ludwine;
Schmidt, Konrad;
Rahner, Nils;
Heinimann, Karl;
Fonatsch, Christa;
Zschocke, Johannes;
Wimmer, Katharina

Publication type:

Article

Toward a cellular model of microvillus inclusion disease.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. v, doi. 10.1002/humu.21263

By:

Wilkie, Andrew O.M.

Publication type:

Article

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1348, doi. 10.1002/humu.21234

By:

Valstar, Marlies J.;
Bertoli-Avella, Aida M.;
Wessels, Marja W.;
Ruijter, George J.G.;
de Graaf, Bianca;
Olmer, Renske;
Elfferich, Peter;
Neijs, Sanne;
Kariminejad, Roxana;
Suheyl Ezgü, Fatih;
Tokatli, Aysegul;
Czartoryska, Barbara;
Bosschaart, Ad N.;
van den Bos-Terpstra, Feikje;
Puissant, Hugues;
Bürger, Friederike;
Omran, Heymut;
Eckert, D.;
Filocamo, Mirella;
Simeonov, Emil

Publication type:

Article

EYS is a major gene for rod-cone dystrophies in France.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1406, doi. 10.1002/humu.21249

By:

Audo, Isabelle;
Sahel, José-Alain;
Mohand-Saïd, Saddek;
Lancelot, Marie-Elise;
Antonio, Aline;
Moskova-Doumanova, Veselina;
Nandrot, Emeline F.;
Doumanov, Jordan;
Barragan, Isabel;
Antinolo, Guillermo;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. E1332, doi. 10.1002/humu.21233

By:

D'haene, B.;
Nevado, J.;
Pugeat, M.;
Pierquin, G.;
Lowry, R.B.;
Reardon, W.;
Delicado, A.;
García-Miñaur, S.;
Palomares, M.;
Courtens, W.;
Stefanova, M.;
Wallace, S.;
Watkins, W.;
Shelling, A. N.;
Wieczorek, D.;
Veitia, R. A.;
De Paepe, A.;
Lapunzina, P.;
De Baere, E.

Publication type:

Article

Functional evaluation of paraplegin mutations by a yeast complementation assay.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 617, doi. 10.1002/humu.21226

By:

Bonn, Florian;
Pantakani, Krishna;
Shoukier, Moneef;
Langer, Thomas;
Mannan, Ashraf U.

Publication type:

Article

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 611, doi. 10.1002/humu.21237

By:

Entezam, Ali;
Lokanga, Adihe Rachel;
Le, Wei;
Hoffman, Gloria;
Usdin, Karen

Publication type:

Article

Genetic analysis of von Hippel-Lindau disease.

Published in:

2010

By:

Nordstrom-O'Brien, Morgan;
van der Luijt, Rob B.;
van Rooijen, Ellen;
van den Ouweland, Ans M.;
Majoor-Krakauer, Danielle F.;
Lolkema, Martijn P.;
van Brussel, Aram;
Voest, Emile E.;
Giles, Rachel H.

Publication type:

Other