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
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
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
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
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
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
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
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
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
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
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