Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 4

Results: 16

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329

By:

Wolf, Barry;
Jensen, Kevin P.;
Barshop, Bruce;
Blitzer, Miriam;
Carlson, Martha;
Goudie, David R.;
Gokcay, Gulden Huner;
Demirkol, Mubeccel;
Baykal, Tolunay;
Demir, F.;
Quary, Sharon;
Shih, Ling Yu;
Pedro, Helio F.;
Chen, Tsui-hua H.;
Slonim, Alfred E.

Publication type:

Article

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 412, doi. 10.1002/humu.9327

By:

Schäfer, Ellen;
Baron, Karin;
Widmer, Urs;
Deegan, Patrick;
P.H. Neumann, Hartmut;
Sunder-Plassmann, Gere;
Johansson, Jan-Ove;
Whybra, Catharina;
Ries, Markus;
M. Pastores, Gregory;
Mehta, Atul;
Beck, Michael;
Gal, Andreas

Publication type:

Article

Gene conversion cetween functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 343, doi. 10.1002/humu.20148

By:

Teich, Niels;
Nemoda, Zsófia;
Köhler, Henrik;
Heinritz, Wolfram;
Mössner, Joachim;
Keim, Volker;
Sahin-Tóth, Miklós

Publication type:

Article

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 372, doi. 10.1002/humu.20153

By:

Saifi, Gulam Mustafa;
Szigeti, Kinga;
Wiszniewski, Wojciech;
Shy, Michael E.;
Krajewski, Karen;
Hausmanowa-Petrusewicz, Irena;
Kochanski, Andrzej;
Reeser, Suzanne;
Mancias, Pedro;
Butler, Ian;
Lupski, James R.

Publication type:

Article

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 410, doi. 10.1002/humu.9323

By:

Sperandeo, Maria Pia;
Annunziata, Patrizia;
Ammendola, Virginia;
Fiorito, Valentina;
Pepe, Antonio;
Soldovieri, Maria Virginia;
Taglialatela, Maurizio;
Andria, Generoso;
Sebastio, Gianfranco

Publication type:

Article

Automated splicing mutation analysis by information theory.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 334, doi. 10.1002/humu.20151

By:

Nalla, Vijay K.;
Rogan, Peter K.

Publication type:

Article

Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: Identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 384, doi. 10.1002/humu.20155

By:

van Scherpenzeel Thim, Virginie;
Remacle, Sophie;
Picard, Jacques;
Cornu, Guy;
Gofflot, Françoise;
Rezsohazy, René;
Verellen-Dumoulin, Christine

Publication type:

Article

Identification of ten novel mutations in patients with eIF2B-related disorders.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9325

By:

Ohlenbusch, Andreas;
Henneke, Marco;
Brockmann, Knut;
Goerg, Maria;
Hanefeld, Folker;
Kohlschütter, Alfried;
Gärtner, Jutta

Publication type:

Article

Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 327, doi. 10.1002/humu.20157

By:

Patrinos, George P.;
van Baal, Sjozef;
Petersen, Michael B.;
Papadakis, Manoussos N.

Publication type:

Article

Conservation of the RB1 gene in human and primates.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 396, doi. 10.1002/humu.20154

By:

Sivakumaran, Theru A.;
Shen, Peidong;
Wall, Dennis P.;
Do, Bao H.;
Kucheria, Kiran;
Oefner, Peter J.

Publication type:

Article

Identification of novel mutations in patients with Shwachman-Diamond syndrome.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 410, doi. 10.1002/humu.9324

By:

Nicolis, Elena;
Bonizzato, Alberto;
Assael, Baroukh M.;
Cipolli, Marco

Publication type:

Article

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 412, doi. 10.1002/humu.9328

By:

Witsch-Baumgartner, M.;
Clayton, P.;
Clusellas, N.;
Haas, D.;
Kelley, R.I.;
Krajewska-Walasek, M.;
Lechner, S.;
Rossi, M.;
Zschocke, J.;
Utermann, G.

Publication type:

Article

Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 353, doi. 10.1002/humu.20158

By:

Lovatt, Tracy;
Alldersea, Julie;
Lear, John T.;
Hoban, Paul R.;
Ramachandran, Sudarshan;
Fryer, Anthony A.;
Smith, Andrew G.;
Strange, Richard C.

Publication type:

Article

Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 348, doi. 10.1002/humu.20152

By:

Singleton, Annie C.;
Mitchell, Anna L.;
Byers, Peter H.;
Potter, Kathleen A.;
Pace, James M.

Publication type:

Article

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 360, doi. 10.1002/humu.20156

By:

Clain, Jérôme;
Lehmann-Che, Jacqueline;
Duguépéroux, Ingrid;
Arous, Nicole;
Girodon, Emmanuelle;
Legendre, Marie;
Goossens, Michel;
Edelman, Aleksander;
de Braekeleer, Marc;
Teulon, Jacques;
Fanen, Pascale

Publication type:

Article

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9326

By:

Hoefele, Julia;
Sudbrak, Ralf;
Reinhardt, Richard;
Lehrack, Silvia;
Hennig, Steffen;
Imm, Anita;
Muerb, Ulla;
Utsch, Boris;
Attanasio, Massimo;
O'Toole, John F.;
Otto, Edgar;
Hildebrandt, Friedhelm

Publication type:

Article