Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 7

Results: 21

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. E1551, doi. 10.1002/humu.21281

By:

Beck, Jon A.;
Poulter, Mark;
Campbell, Tracy A.;
Adamson, Gary;
Uphill, James B.;
Guerreiro, Rita;
Jackson, Graham S.;
Stevens, James C.;
Manji, Hadi;
Collinge, John;
Mead, Simon

Publication type:

Article

HGV2009 meeting: bigger and better studies provide more answers and more questions.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 886, doi. 10.1002/humu.21270

By:

Reekie, Katherine;
Metspalu, Andres;
Chanock, Stephen J.;
Liu, Edison T.;
Mardis, Elaine R.;
Scherer, Stephen W.;
Kwok, Pui-Yan;
Brookes, Anthony J.

Publication type:

Article

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. E1544, doi. 10.1002/humu.21278

By:

Clarke, Nigel F.;
Waddell, Leigh B.;
Cooper, Sandra T.;
Perry, Margaret;
Smith, Robert L.L.;
Kornberg, Andrew J.;
Muntoni, Francesco;
Lillis, Suzanne;
Straub, Volker;
Bushby, Kate;
Guglieri, Michela;
King, Mary D.;
Farrell, Michael A.;
Marty, Isabelle;
Lunardi, Joel;
Monnier, Nicole;
North, Kathryn N.

Publication type:

Article

Cystathionine β-synthase mutations: effect of mutation topology on folding and activity.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 809, doi. 10.1002/humu.21273

By:

Kožich, Viktor;
Sokolová, Jitka;
Klatovská, Veronika;
Krijt, Jakub;
Janošík, Miroslav;
Jelínek, Karel;
Kraus, Jan P.

Publication type:

Article

Bone morphogenetic protein 7 ( BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 781, doi. 10.1002/humu.21280

By:

Wyatt, Alexander W.;
Osborne, Robert J.;
Stewart, Helen;
Ragge, Nicola K.

Publication type:

Article

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 840, doi. 10.1002/humu.21284

By:

Szafranski, Przemyslaw;
Schaaf, Christian P.;
Person, Richard E.;
Gibson, Ian B.;
Xia, Zhilian;
Mahadevan, Sangeetha;
Wiszniewska, Joanna;
Bacino, Carlos A.;
Lalani, Seema;
Potocki, Lorraine;
Kang, Sung-Hae;
Patel, Ankita;
Cheung, Sau Wai;
Probst, Frank J.;
Graham, Brett H.;
Shinawi, Marwan;
Beaudet, Arthur L.;
Stankiewicz, Pawel

Publication type:

Article

Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 794, doi. 10.1002/humu.21266

By:

Scapoli, Luca;
Martinelli, Marcella;
Pezzetti, Furio;
Palmieri, Annalisa;
Girardi, Ambra;
Savoia, Anna;
Bianco, Anna Monica;
Carinci, Francesco

Publication type:

Article

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 858, doi. 10.1002/humu.21261

By:

Bruce, Christopher K.;
Smith, Matthew;
Rahman, Fatima;
Liu, Zhi-feng;
McMullan, Dominic J.;
Ball, Sarah;
Hartley, Jane;
Kroos, Marian A.;
Heptinstall, Lesley;
Reuser, Arnold J.J.;
Rolfs, Arndt;
Hendriksz, Chris;
Kelly, Deirdre A.;
Barrett, Timothy G.;
MacDonald, Fiona;
Maher, Eamonn R.;
Gissen, Paul

Publication type:

Article

Assessment of complement C4 gene copy number using the paralog ratio test.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 866, doi. 10.1002/humu.21259

By:

Fernando, Michelle M.A.;
Boteva, Lora;
Morris, David L.;
Zhou, Bi;
Wu, Yee Ling;
Lokki, Marja-Liisa;
Yu, Chack Yung;
Rioux, John D.;
Hollox, Edward J.;
Vyse, Timothy J.

Publication type:

Article

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Published in:

2010

By:

Nuytemans, Karen;
Theuns, Jessie;
Cruts, Marc;
Van Broeckhoven, Christine

Publication type:

Other

Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 801, doi. 10.1002/humu.21272

By:

Pekkala, Satu;
Martínez, Ana I.;
Barcelona, Belén;
Yefimenko, Igor;
Finckh, Ulrich;
Rubio, Vicente;
Cervera, Javier

Publication type:

Article

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 830, doi. 10.1002/humu.21283

By:

Koeppen, Katja;
Reuter, Peggy;
Ladewig, Thomas;
Kohl, Susanne;
Baumann, Britta;
Jacobson, Samuel G.;
Plomp, Astrid S.;
Hamel, Christian P.;
Janecke, Andreas R.;
Wissinger, Bernd

Publication type:

Article

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. E1564, doi. 10.1002/humu.21282

By:

Michot, Caroline;
Hubert, Laurence;
Brivet, Michèle;
De Meirleir, Linda;
Valayannopoulos, Vassili;
Müller-Felber, Wolfgang;
Venkateswaran, Ramesh;
Ogier, Hélène;
Desguerre, Isabelle;
Altuzarra, Cécilia;
Thompson, Elizabeth;
Smitka, Martin;
Huebner, Angela;
Husson, Marie;
Horvath, Rita;
Chinnery, Patrick;
Vaz, Frederic M.;
Munnich, Arnold;
Elpeleg, Orly;
Delahodde, Agnès

Publication type:

Article

Genomic copy number variations in three Southeast Asian populations.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 851, doi. 10.1002/humu.21287

By:

Ku, Chee-Seng;
Pawitan, Yudi;
Sim, Xueling;
Ong, Rick T.H.;
Seielstad, Mark;
Lee, Edmund J.D.;
Teo, Yik-Ying;
Chia, Kee-Seng;
Salim, Agus

Publication type:

Article

SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 875, doi. 10.1002/humu.21276

By:

Melum, Espen;
May, Sandra;
Schilhabel, Markus B.;
Thomsen, Ingo;
Karlsen, Tom H.;
Rosenstiel, Philip;
Schreiber, Stefan;
Franke, Andre

Publication type:

Article

Mutations in SOHLH1 gene associate with nonobstructive Azoospermia.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 788, doi. 10.1002/humu.21264

By:

Choi, Youngsok;
Jeon, Sanghyun;
Choi, Mikyung;
Lee, Min-ho;
Park, Miseon;
Lee, Dong Ryul;
Jun, Kyu-Yeon;
Kwon, Youngjoo;
Lee, Ok-Hee;
Song, Seung-Hun;
Kim, Ji-Young;
Lee, Kyung-Ah;
Yoon, Tae Ki;
Rajkovic, Aleksandar;
Shim, Sung Han

Publication type:

Article

A Possible Role for JARID2 in Cleft Lip and Palate.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. v, doi. 10.1002/humu.21308

By:

Jakobsen, Linda P.

Publication type:

Article

South East Asian CNVs Captured.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. v, doi. 10.1002/humu.21309

By:

Ragoussis, Jiannis

Publication type:

Article

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 820, doi. 10.1002/humu.21275

By:

Nakayama, Tojo;
Ogiwara, Ikuo;
Ito, Koichi;
Kaneda, Makoto;
Mazaki, Emi;
Osaka, Hitoshi;
Ohtani, Hideyuki;
Inoue, Yushi;
Fujiwara, Tateki;
Uematsu, Mitsugu;
Haginoya, Kazuhiro;
Tsuchiya, Shigeru;
Yamakawa, Kazuhiro

Publication type:

Article

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Published in:

Human Mutation, 2010, v. 31, n. 7, p. E1574, doi. 10.1002/humu.21286

By:

Fedele, Anthony O.;
Hopwood, John J.

Publication type:

Article

First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. E1526, doi. 10.1002/humu.21274

By:

Piters, Elke;
Culha, Cavit;
Moester, Martiene;
Van Bezooijen, Rutger;
Adriaensen, Dirk;
Mueller, Thomas;
Weidauer, Stella;
Jennes, Karen;
de Freitas, Fenna;
Löwik, Clemens;
Timmermans, Jean-Pierre;
Van Hul, Wim;
Papapoulos, Socrates

Publication type:

Article