Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 6

Results: 17

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 590, doi. 10.1002/humu.20270

By:

Zavadáková, Petra;
Fowler, Brian;
Suormala, Terttu;
Novotna, Zorka;
Mueller, Peter;
Hennermann, Julia B.;
Zeman, Jiří;
Vilaseca, M. Antonia;
Vilarinho, Laura;
Gutsche, Sven;
Wilichowski, Ekkehard;
Horneff, Gerd;
Kožich, Viktor

Publication type:

Article

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 557, doi. 10.1002/humu.20263

By:

Cotterill, Sally L.;
Jackson, Gail C.;
Leighton, Matthew P.;
Wagener, Raimund;
Mäkitie, Outi;
Cole, William G.;
Briggs, Michael D.

Publication type:

Article

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 550, doi. 10.1002/humu.20256

By:

Fouchier, Sigrid W.;
Kastelein, John J.P.;
Defesche, Joep C.

Publication type:

Article

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 583, doi. 10.1002/humu.20261

By:

Kroiss, Regina;
Winkler, Verena;
Bikas, Diana;
Fleischmann, Elisabeth;
Mainau, Claudia;
Frommlet, Florian;
Muhr, Daniela;
Fuerhauser, Christine;
Tea, Maria;
Bittner, Barbara;
Kubista, Ernst;
Oefner, Peter J.;
Bauer, Peter;
Wagner, Teresa M.U.

Publication type:

Article

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 575, doi. 10.1002/humu.20262

By:

Sperling, Silke;
Grimm, Christina H.;
Dunkel, Ilona;
Mebus, Siegrun;
Sperling, Hans-Peter;
Ebner, Arno;
Galli, Raffaello;
Lehrach, Hans;
Fusch, Christoph;
Berger, Felix;
Hammer, Stefanie

Publication type:

Article

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 540, doi. 10.1002/humu.20255

By:

Buckley, Patrick G.;
Mantripragada, Kiran K.;
Díaz de Ståhl, Teresita;
Piotrowski, Arkadiusz;
Hansson, Caisa M.;
Kiss, Hajnalka;
Vetrie, David;
Ernberg, Ingemar T.;
Nordenskjöld, Magnus;
Bolund, Lars;
Sainio, Markku;
Rouleau, Guy A.;
Niimura, Michihito;
Wallace, Andrew J.;
Evans, D. Gareth R.;
Grigelionis, Gintautas;
Menzel, Uwe;
Dumanski, Jan P.

Publication type:

Article

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 591, doi. 10.1002/humu.9385

By:

Bach, Gideon;
Webb, Michael B.T.;
Bargal, Ruth;
Zeigler, Marcia;
Ekstein, Joseph

Publication type:

Article

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 566, doi. 10.1002/humu.20250

By:

Taylor, Matthew R.G.;
Slavov, Dobromir;
Gajewski, Andreas;
Vlcek, Sylvia;
Ku, Lisa;
Fain, Pamela R.;
Carniel, Elisa;
Di Lenarda, Andrea;
Sinagra, Gianfranco;
Boucek, Mark M.;
Cavanaugh, Jean;
Graw, Sharon L.;
Ruegg, Patsy;
Feiger, Jennie;
Zhu, Xiao;
Ferguson, Debra A.;
Bristow, Michael R.;
Gotzmann, Josef;
Foisner, Roland;
Mestroni, Luisa

Publication type:

Article

Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9386

By:

Allard, Delphine;
Amsellem, Sabine;
Abifadel, Marianne;
Trillard, Mélanie;
Devillers, Martine;
Luc, Gérald;
Krempf, Michel;
Reznik, Yves;
Girardet, Jean-Philippe;
Fredenrich, Alexandre;
Junien, Claudine;
Varret, Mathilde;
Boileau, Catherine;
Benlian, Pascale;
Rabès, Jean-Pierre

Publication type:

Article

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 500, doi. 10.1002/humu.20257

By:

Tomatsu, Shunji;
Montaño, Adriana M.;
Nishioka, Tatsuo;
Gutierrez, Monica A.;
Peña, Olga M.;
Tranda firescu, Georgeta G.;
Lopez, Patricia;
Yamaguchi, Seiji;
Noguchi, Akihiko;
Orii, Tadao

Publication type:

Article

Mutation rates at Y chromosome specific microsatellites.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 520, doi. 10.1002/humu.20254

By:

Gusmão, L.;
Sánchez-Diz, P.;
Calafell, F.;
Martín, P.;
Alonso, C.A.;
Álvarez-Fernández, F.;
Alves, C.;
Borjas-Fajardo, L.;
Bozzo, W.R.;
Bravo, M.L.;
Builes, J.J.;
Capilla, J.;
Carvalho, M.;
Castillo, C.;
Catanesi, C.I.;
Corach, D.;
Di Lonardo, A.M.;
Espinheira, R.;
Fagundes de Carvalho, E.;
Farfán, M.J.

Publication type:

Article

Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9388

By:

Nguyen, Karine;
Bassez, Guillaume;
Bernard, Rafaëlle;
Krahn, Martin;
Labelle, Véronique;
Figarella-Branger, Dominique;
Pouget, Jean;
Hammouda, El Hadi;
Béroud, Christophe;
Urtizberea, Andoni;
Eymard, Bruno;
Leturcq, France;
Lévy, Nicolas

Publication type:

Article

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 591, doi. 10.1002/humu.9384

By:

Kalay, E.;
Karaguzel, A.;
Caylan, R.;
Heister, A.;
Cremers, F.P.M.;
Cremers, C.W.R.J.;
Brunner, H.G.;
de Brouwer, A.P.M.;
Kremer, H.

Publication type:

Article

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 513, doi. 10.1002/humu.20253

By:

Aretz, Stefan;
Stienen, Dietlinde;
Uhlhaas, Siegfried;
Loff, Steffan;
Back, Walter;
Pagenstecher, Constanze;
McLeod, D. Ross;
Graham, Gail E.;
Mangold, Elisabeth;
Santer, René;
Propping, Peter;
Friedl, Waltraut

Publication type:

Article

Toward a Human Variome Project.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 499, doi. 10.1002/humu.20272

By:

Cotton, Richard G.H.;
Kazazian, Haig H.

Publication type:

Article

Erratum: A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9387

By:

Hempen, Paula M.;
Kurpad, Harsha;
Calhoun, Eric S.;
Abraham, Susan;
Kern, Scott E.

Publication type:

Article

Identification of 29 novel and nine recurrent fibrillin-1 ( FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 529, doi. 10.1002/humu.20239

By:

Rommel, Kathrin;
Karck, Matthias;
Haverich, Axel;
von Kodolitsch, Yskert;
Rybczynski, Meike;
Müller, Götz;
Singh, Krishna K.;
Schmidtke, Jörg;
Arslan-Kirchner, Mine

Publication type:

Article