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
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
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
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
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
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
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
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
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