Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 3

Results: 10

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 255, doi. 10.1002/humu.20430
By:
- Vyletal, Petr;
- Sokolová, Jitka;
- Cooper, David N.;
- Kraus, Jan P.;
- Krawczak, Michael;
- Pepe, Guglielmina;
- Rickards, Olga;
- Koch, Hans G.;
- Linnebank, Michael;
- Kluijtmans, Leo A. J.;
- Blom, Henk J.;
- Boers, Godfried H. J.;
- Gaustadnes, Mette;
- Skovby, Flemming;
- Wilcken, Bridget;
- Wilcken, David E. L.;
- Andria, Generoso;
- Sebastio, Gianfranco;
- Naughten, Eileen R.;
- Yap, Sufin
Publication type:
Article
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 265, doi. 10.1002/humu.20431
By:
- Zampino, Giuseppe;
- Pantaleoni, Francesca;
- Carta, Claudio;
- Cobellis, Gilda;
- Vasta, Isabella;
- Neri, Cinzia;
- Pogna, Edgar A.;
- De Feo, Emma;
- Delogu, Angelica;
- Sarkozy, Anna;
- Atzeri, Francesca;
- Selicorni, Angelo;
- Rauen, Katherine A.;
- Cytrynbaum, Cheryl S.;
- Weksberg, Rosanna;
- Dallapiccola, Bruno;
- Ballabio, Andrea;
- Gelb, Bruce D.;
- Neri, Giovanni;
- Tartaglia, Marco
Publication type:
Article
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 294, doi. 10.1002/humu.20404
By:
- Alharbi, Khalid K.;
- Spanakis, Emmanuel;
- Tan, Karen;
- Smith, Matt J.;
- Aldahmesh, Mohammed A.;
- O'Dell, Sandra D.;
- Sayer, Avan Aihie;
- Lawlor, Debbie A.;
- Ebrahim, Shah;
- Davey Smith, George;
- O'Rahilly, Stephen;
- Farooqi, Sadaf;
- Cooper, Cyrus;
- Phillips, David I.W.;
- Day, Ian N.M.
Publication type:
Article
Genotype-phenotype correlations in hereditary familial retinoblastoma.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 284, doi. 10.1002/humu.20443
By:
- Taylor, Melissa;
- Dehainault, Catherine;
- Desjardins, Laurence;
- Doz, François;
- Levy, Christine;
- Sastre, Xavier;
- Couturier, Jérôme;
- Stoppa-Lyonnet, Dominique;
- Houdayer, Claude;
- Gauthier-Villars, Marion
Publication type:
Article
Transgenic mice carrying the H258N mutation in the gene encoding the β-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 243, doi. 10.1002/humu.20425
By:
- Tsang, Stephen H.;
- Woodruff, Michael L.;
- Jun, Lin;
- Mahajan, Vinit;
- Yamashita, Clyde K.;
- Pedersen, Robert;
- Lin, Chyuan-Sheng;
- Goff, Stephen P.;
- Rosenberg, Thomas;
- Larsen, Michael;
- Farber, Debora B.;
- Nusinowitz, Steven
Publication type:
Article
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
By:
- Marini, Joan C.;
- Forlino, Antonella;
- Cabral, Wayne A.;
- Barnes, Aileen M.;
- San Antonio, James D.;
- Milgrom, Sarah;
- Hyland, James C.;
- Körkkö, Jarmo;
- Prockop, Darwin J.;
- De Paepe, Anne;
- Coucke, Paul;
- Symoens, Sofie;
- Glorieux, Francis H.;
- Roughley, Peter J.;
- Lund, Alan M.;
- Kuurila-Svahn, Kaija;
- Hartikka, Heini;
- Cohn, Daniel H.;
- Krakow, Deborah;
- Mottes, Monica
Publication type:
Article
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 235, doi. 10.1002/humu.20424
By:
- Stanczak, Christopher M.;
- Chen, Zugen;
- Zhang, Yao-Hua;
- Nelson, Stanley F.;
- McCabe, Edward R.B.
Publication type:
Article
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 273, doi. 10.1002/humu.20432
By:
- Clewing, J. Marietta;
- Fryssira, Helen;
- Goodman, David;
- Smithson, Sarah F.;
- Sloan, Emily A.;
- Lou, Shu;
- Huang, Yan;
- Choi, Kunho;
- Lücke, Thomas;
- Alpay, Harika;
- André, Jean-Luc;
- Asakura, Yumi;
- Biebuyck-Gouge, Nathalie;
- Bogdanovic, Radovan;
- Bonneau, Dominique;
- Cancrini, Caterina;
- Cochat, Pierre;
- Cockfield, Sandra;
- Collard, Laure;
- Cordeiro, Isabel
Publication type:
Article
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
Published in:
2007
By:
- Saunders, Rebecca E.;
- Abarrategui-Garrido, Cynthia;
- Frémeaux-Bacchi, Véronique;
- Goicoechea de Jorge, Elena;
- Goodship, Timothy H.J.;
- López Trascasa, Margarita;
- Noris, Marina;
- Ponce Castro, Isabel Maria;
- Remuzzi, Giuseppe;
- Rodríguez de Córdoba, Santiago;
- Sánchez-Corral, Pilar;
- Skerka, Christine;
- Zipfel, Peter F.;
- Perkins, Stephen J.
Publication type:
Other
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry.
Published in:
Human Mutation, 2007, v. 28, n. 3, p. 303, doi. 10.1002/humu.20439
By:
- Gross, Eva;
- Hölzl, Georg;
- Arnold, Norbert;
- Hauenstein, Evelyn;
- Jacobsen, Anja;
- Schulze, Kathrin;
- Ramser, Juliane;
- Meindl, Alfons;
- Kiechle, Marion;
- Oefner, Peter J.
Publication type:
Article