Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 4

Results: 15

Italian Rett database and biobank.

Published in:

2007

By:

Sampieri, Katia;
Meloni, Ilaria;
Scala, Elisa;
Ariani, Francesca;
Caselli, Rossella;
Pescucci, Chiara;
Longo, Ilaria;
Artuso, Rosangela;
Bruttini, Mirella;
Mencarelli, Maria Antonietta;
Speciale, Caterina;
Causarano, Vincenza;
Hayek, Giuseppe;
Zappella, Michele;
Renieri, Alessandra;
Mari, Francesca

Publication type:

Other

Case-control genetic association study of fibulin-6 ( FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 406, doi. 10.1002/humu.20464

By:

Fisher, Sheila A.;
Rivera, Andrea;
Fritsche, Lars G.;
Keilhauer, Claudia N.;
Lichtner, Peter;
Meitinger, Thomas;
Rudolph, Günther;
Weber, Bernhard H.F.

Publication type:

Article

Response to: getting rid of the PMS2 pseudogenes: mission impossible?

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 415, doi. 10.1002/humu.20446

By:

Clendenning, Mark;
de la Chapelle, Albert

Publication type:

Article

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 416, doi. 10.1002/humu.9485

By:

Perrault, Isabelle;
Delphin, Nathalie;
Hanein, Sylvain;
Gerber, Sylvie;
Dufier, Jean-Louis;
Roche, Olivier;
Defoort-Dhellemmes, Sabine;
Dollfus, Hélène;
Fazzi, Elisa;
Munnich, Arnold;
Kaplan, Josseline;
Rozet, Jean-Michel

Publication type:

Article

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 313, doi. 10.1002/humu.20452

By:

Dastot-Le Moal, Florence;
Wilson, Meredith;
Mowat, David;
Collot, Nathalie;
Niel, Florence;
Goossens, Michel

Publication type:

Article

RPGR mutation analysis and disease: an update.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 322, doi. 10.1002/humu.20461

By:

Shu, Xinhua;
Black, Graeme C.;
Rice, Jacqueline M.;
Hart-Holden, Niki;
Jones, Alison;
O'Grady, Anna;
Ramsden, Simon;
Wright, Alan F.

Publication type:

Article

Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 365, doi. 10.1002/humu.20454

By:

Abdollahi, Mohammad R.;
Lewis, Rohan M.;
Gaunt, Tom R.;
Cumming, Debbie V.E.;
Rodriguez, Santiago;
Rose-Zerilli, Matthew;
Collins, Andrew R.;
Syddall, Holly E.;
Howell, William M.;
Cooper, Cyrus;
Godfrey, Keith M.;
Cameron, Iain T.;
Day, Ian N.M.

Publication type:

Article

Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 345, doi. 10.1002/humu.20445

By:

Rovida, Ermanna;
Merati, Giuliana;
D'Ursi, Pasqualina;
Zanardelli, Sara;
Marino, Francesca;
Fontana, Gessica;
Castaman, Giancarlo;
Faioni, Elena M.

Publication type:

Article

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 387, doi. 10.1002/humu.20455

By:

Malfait, Fransiska;
Symoens, Sofie;
De Backer, Julie;
Hermanns-Lê, Trinh;
Sakalihasan, Natzi;
Lapière, Charles M.;
Coucke, Paul;
De Paepe, Anne

Publication type:

Article

Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 396, doi. 10.1002/humu.20456

By:

Cabral, Wayne A.;
Makareeva, Elena;
Letocha, Anne D.;
Scribanu, Nina;
Fertala, Andrzej;
Steplewski, Andrzej;
Keene, Douglas R.;
Persikov, Anton V.;
Leikin, Sergey;
Marini, Joan C.

Publication type:

Article

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 416, doi. 10.1002/humu.9484

By:

van der Zee, Julie;
Le Ber, Isabelle;
Maurer-Stroh, Sebastian;
Engelborghs, Sebastiaan;
Gijselinck, Ilse;
Camuzat, Agnès;
Brouwers, Nathalie;
Vandenberghe, Rik;
Sleegers, Kristel;
Hannequin, Didier;
Dermaut, Bart;
Schymkowitz, Joost;
Campion, Dominique;
Santens, Patrick;
Martin, Jean-Jacques;
Lacomblez, Lucette;
De Pooter, Tim;
Peeters, Karin;
Mattheijssens, Maria;
Vercelletto, Martine

Publication type:

Article

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 336, doi. 10.1002/humu.20444

By:

Majava, Marja;
Bishop, Paul N.;
Hägg, Pasi;
Scott, Paul G.;
Rice, Aine;
Inglehearn, Chris;
Hammond, Christopher J.;
Spector, Tim D.;
Ala-Kokko, Leena;
Männikkö, Minna

Publication type:

Article

Getting rid of the PMS2 pseudogenes: mission impossible?

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 414, doi. 10.1002/humu.20447

By:

Niessen, Renée C.;
Kleibeuker, Jan H.;
Jager, Paul O.J.;
Sijmons, Rolf H.;
Hofstra, Robert M.W.

Publication type:

Article

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 374, doi. 10.1002/humu.20459

By:

Bär, Harald;
Goudeau, Bertrand;
Wälde, Sarah;
Casteras-Simon, Monique;
Mücke, Norbert;
Shatunov, Alexey;
Goldberg, Y. Paul;
Clarke, Charles;
Holton, Janice L.;
Eymard, Bruno;
Katus, Hugo A.;
Fardeau, Michel;
Goldfarb, Lev;
Vicart, Patrick;
Herrmann, Harald

Publication type:

Article

Truncation of NHEJ1 in a patient with polymicrogyria.

Published in:

Human Mutation, 2007, v. 28, n. 4, p. 356, doi. 10.1002/humu.20450

By:

Cantagrel, Vincent;
Lossi, Anne-Marie;
Lisgo, Steven;
Missirian, Chantal;
Borges, Ana;
Philip, Nicole;
Fernandez, Carla;
Cardoso, Carlos;
Figarella-Branger, Dominique;
Moncla, Anne;
Lindsay, Susan;
Dobyns, William B.;
Villard, Laurent

Publication type:

Article