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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
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
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
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
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
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
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
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
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
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
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
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

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