Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 6

Results: 19

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 599, doi. 10.1002/humu.9424

By:

Wenzel, Katrin;
Carl, Miriam;
Perrot, Andreas;
Zabojszcza, Joanna;
Assadi, Maziar;
Ebeling, Martin;
Geier, Christian;
Robinson, Peter N.;
Kress, Wolfram;
Osterziel, Karl-Josef;
Spuler, Simone

Publication type:

Article

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 568, doi. 10.1002/humu.20344

By:

Lotery, Andrew J.;
Baas, Dominique;
Ridley, Caroline;
Jones, Richard P.O.;
Klaver, Caroline C.W.;
Stone, Edwin;
Nakamura, Tomoyuki;
Luff, Andrew;
Griffiths, Helen;
Wang, Tao;
Bergen, Arthur A.B.;
Trump, Dorothy

Publication type:

Article

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 524, doi. 10.1002/humu.20315

By:

Denecke, Jonas;
Brune, Thomas;
Feldhaus, Tobias;
Robenek, Horst;
Kranz, Christian;
Auchus, Richard J.;
Agarwal, Anil K.;
Marquardt, Thorsten

Publication type:

Article

The Cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 532, doi. 10.1002/humu.20326

By:

Riemenschneider, Matthias;
Blennow, Kaj;
Wagenpfeil, Stefan;
Andreasen, Niels;
Prince, Jonathan A.;
Laws, Simon M.;
Förstl, Hans;
Kurz, Alexander

Publication type:

Article

The spectrum of WRN mutations in Werner syndrome patients.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 558, doi. 10.1002/humu.20337

By:

Huang, Shurong;
Lee, Lin;
Hanson, Nancy B.;
Lenaerts, Catherine;
Hoehn, Holger;
Poot, Martin;
Rubin, Craig D.;
Chen, Da-Fu;
Yang, Chih-Chao;
Juch, Heike;
Dorn, Thomas;
Spiegel, Roland;
Oral, Elif Arioglu;
Abid, Mohammed;
Battisti, Carla;
Lucci-Cordisco, Emanuela;
Neri, Giovanni;
Steed, Erin H.;
Kidd, Alexa;
Isley, William

Publication type:

Article

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 599, doi. 10.1002/humu.9423

By:

Lee, Kwang-Soo;
Song, Hae-Ryong;
Cho, Tae-Joon;
Kim, Hyon J.;
Lee, Tae-Mi;
Jin, Hyun-Seok;
Park, Hyun-Young;
Kang, Seongman;
Jung, Sung-Chul;
Koo, Soo Kyung

Publication type:

Article

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 505, doi. 10.1002/humu.20332

By:

Ilja Boor, P. K.;
Groot, Koen de;
Mejaski-Bosnjak, Vlatka;
Brenner, Christiana;
van der Knaap, Marjo S.;
Scheper, Gert C.;
Pronk, Jan C.

Publication type:

Article

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 553, doi. 10.1002/humu.20331

By:

Boutboul, Sandrine;
Black, Graeme C.M.;
Moore, John E.;
Sinton, Janet;
Menasche, Maurice;
Munier, Francis L.;
Laroche, Laurent;
Abitbol, Marc;
Schorderet, Daniel F.

Publication type:

Article

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 513, doi. 10.1002/humu.20314

By:

Filippo, Cristina Amat di San;
Pasquali, Marzia;
Longo, Nicola

Publication type:

Article

Comparisons of PCR-based genome amplification systems using CpG island microarrays.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 589, doi. 10.1002/humu.20329

By:

Pike, Brian L.;
Groshen, Susan;
Hsu, Ya-Hsuan;
Shai, Ruty Mehrian;
Wang, Xiaoming;
Holtan, Nicholas;
Futscher, Bernard W.;
Hacia, Joseph G.

Publication type:

Article

The Cypriot and Iranian National Mutation Frequency Databases.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9422

By:

Kleanthous, Marina;
Patsalis, Philippos C.;
Drousiotou, Anthi;
Motazacker, Mehdi;
Christodoulou, Kyproula;
Cariolou, Marios;
Baysal, Erol;
Khrizi, Kimia;
Moghimi, Babak;
Pourfarzad, Farzin;
van Baal, Sjozef;
Deltas, Constantinos;
Najmabadi, Hossein;
Patrinos, George P.

Publication type:

Article

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426

By:

Lucchiari, S.;
Pagliarani, S.;
Salani, S.;
Filocamo, M.;
Di Rocco, M.;
Melis, D.;
Rodolico, C.;
Musumeci, O.;
Toscano, A.;
Bresolin, N.;
Comi, G.P.

Publication type:

Article

Determination of genomic copy number with quantitative microsphere hybridization.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 597, doi. 10.1002/humu.20372

By:

Newkirk, Heather L.;
Rogan, Peter K.;
Miralles, Mauricio;
Knoll, Joan H.M.

Publication type:

Article

Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 545, doi. 10.1002/humu.20335

By:

Bischof, Jared M.;
Chiang, Annie P.;
Scheetz, Todd E.;
Stone, Edwin M.;
Casavant, Thomas L.;
Sheffield, Val C.;
Braun, Terry A.

Publication type:

Article

GENOMIZER: an integrated analysis system for genome-wide association data.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 583, doi. 10.1002/humu.20306

By:

Franke, Andre;
Wollstein, Andreas;
Teuber, Markus;
Wittig, Michael;
Lu, Tim;
Hoffmann, Katrin;
Nürnberg, Peter;
Krawczak, Michael;
Schreiber, Stefan;
Hampe, Jochen

Publication type:

Article

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9425

By:

Picard, Véronique;
Nowak-Göttl, Ulrike;
Biron-Andreani, Christine;
Fouassier, Marc;
Frere, Corinne;
Goualt-Heilman, Michèle;
de Maistre, Emmanuel;
Regina, Sandra;
Rugeri, Lucia;
Ternisien, Catherine;
Trichet, Catherine;
Vergnes, Christine;
Aiach, Martine;
Alhenc-Gelas, Martine

Publication type:

Article

The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 538, doi. 10.1002/humu.20323

By:

Stredrick, Denise L.;
Garcia-Closas, Montserrat;
Pineda, Marbin A.;
Bhatti, Parveen;
Alexander, Bruce H.;
Doody, Michele M.;
Lissowska, Jolanta;
Peplonska, Beata;
Brinton, Louise A.;
Chanock, Stephen J.;
Struewing, Jeffery P.;
Sigurdson, Alice J.

Publication type:

Article

m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 575, doi. 10.1002/humu.20338

By:

Gallardo, M. Esther;
Moreno-Loshuertos, Raquel;
López, Celia;
Casqueiro, Mercedes;
Silva, Javier;
Bonilla, Felix;
de Córdoba, Santiago Rodríguez;
Enríquez, José Antonio

Publication type:

Article

Distribution of ENG and ACVRL1 ( ALK1) mutations in French HHT patients.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9421

By:

Lesca, Gaëtan;
Burnichon, Nelly;
Raux, Grégory;
Tosi, Mario;
Pinson, Stéphane;
Marion, Marie-Jeanne;
Babin, Emmanuel;
Gilbert-Dussardier, Brigitte;
Rivière, Sophie;
Goizet, Cyril;
Faivre, Laurence;
Plauchu, Henri;
Frébourg, Thierry;
Calender, Alain;
Giraud, Sophie

Publication type:

Article