Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 8

Results: 21

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 832, doi. 10.1002/humu.9446

By:

Lee, Ming-Jen;
Su, Yi-Ning;
You, Huey-Ling;
Chiou, Shinn-Chong;
Lin, Li-Chu;
Yang, Chih-Chao;
Lee, Wang-Chao;
Hwu, Wu-Liang;
Hsieh, Fon-Jou;
Stephenson, Dennis A.;
Yu, Chia-Li

Publication type:

Article

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349

By:

Stadler, Sonja C.;
Polanetz, Roman;
Maier, Esther M.;
Heidenreich, Sylvia C.;
Niederer, Birgit;
Mayerhofer, Peter U.;
Lagler, Florian;
Koch, Hans-Georg;
Santer, René;
Fletcher, Janice M.;
Ranieri, Enzo;
Das, Anibh M.;
Spiekerkötter, Ute;
Schwab, Karl O.;
Pötzsch, Simone;
Marquardt, Iris;
Hennermann, Julia B.;
Knerr, Ina;
Mercimek-Mahmutoglu, Saadet;
Kohlschmidt, Nicolai

Publication type:

Article

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9443

By:

Tiede, Stephan;
Cantz, Michael;
Spranger, Jürgen;
Braulke, Thomas

Publication type:

Article

Paternal bias in parental origin of HRAS mutations in Costello syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 736, doi. 10.1002/humu.20381

By:

Sol-Church, Katia;
Stabley, Deborah L.;
Nicholson, Linda;
Gonzalez, Iris L.;
Gripp, Karen W.

Publication type:

Article

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9442

By:

Galli, Lucia;
Orrico, Alfredo;
Lorenzini, Stefania;
Censini, Stefano;
Falciani, Michela;
Covacci, Antonello;
Tegazzin, Vincenzo;
Sorrentino, Vincenzo

Publication type:

Article

Spectrum of factor XI ( F11) mutations in the UK population - 116 index cases and 140 mutations.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 829, doi. 10.1002/humu.9439

By:

Mitchell, Michael;
Mountford, Roger;
Butler, Rachel;
Alhaq, Anwar;
Dai, Letian;
Savidge, Geoffrey;
Bolton-Maggs, Paula H.B.

Publication type:

Article

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 814, doi. 10.1002/humu.20330

By:

Vorstman, J.A.S.;
Jalali, G.R.;
Rappaport, E.F.;
Hacker, A.M.;
Scott, C.;
Emanuel, B.S.

Publication type:

Article

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 731, doi. 10.1002/humu.20380

By:

Borck, Guntram;
Zarhrate, Mohamed;
Cluzeau, Céline;
Bal, Elodie;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

Phenotypic consequences of branch point substitutions.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 803, doi. 10.1002/humu.20362

By:

Královičová, Jana;
Lei, Haixin;
Vořechovský, Igor

Publication type:

Article

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9441

By:

Waanders, Esmé;
te Morsche, René H.M.;
de Man, Rob A.;
Jansen, Jan B.M.J.;
Drenth, Joost P.H.

Publication type:

Article

Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 831, doi. 10.1002/humu.9445

By:

Cruciani, Fulvio;
La Fratta, Roberta;
Torroni, Antonio;
Underhill, Peter A.;
Scozzari, Rosaria

Publication type:

Article

Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 822, doi. 10.1002/humu.20355

By:

Garcia-Garcia, Ana B.;
Blesa, Sebastian;
Martinez-Hervas, Sergio;
Mansego, M. Luisa;
Gonzalez-Albert, Veronica;
Ascaso, Juan F.;
Carmena, Rafael;
Real, Jose T.;
Chaves, Felipe J.

Publication type:

Article

Characterization of CHEK2 mutations in prostate cancer.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 742, doi. 10.1002/humu.20321

By:

Wu, Xianglin;
Dong, Xiangyang;
Liu, Wanguo;
Chen, Junjie

Publication type:

Article

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 796, doi. 10.1002/humu.20361

By:

Mandey, Saskia H.L.;
Schneiders, Marit S.;
Koster, Janet;
Waterham, Hans R.

Publication type:

Article

Mutations of human cationic trypsinogen ( PRSS1) and chronic pancreatitis.

Published in:

2006

By:

Teich, Niels;
Rosendahl, Jonas;
Tóth, Miklós;
Mössner, Joachim;
Sahin-Tóth, Miklós

Publication type:

Other

V(D)J recombinase mediated inter-chromosomal HPRT alterations at cryptic recombination signal sequences in peripheral human T cells.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 829, doi. 10.1002/humu.9440

By:

Messier, Terri L.;
O'Neill, J. Patrick;
Finette, Barry A.

Publication type:

Article

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 770, doi. 10.1002/humu.20354

By:

Singh, Krishna Kumar;
Rommel, Kathrin;
Mishra, Anjali;
Karck, Matthias;
Haverich, Axel;
Schmidtke, Jörg;
Arslan-Kirchner, Mine

Publication type:

Article

Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 831, doi. 10.1002/humu.9444

By:

Schulz, Veronika;
Hendig, Doris;
Henjakovic, Maja;
Szliska, Christiane;
Kleesiek, Knut;
Götting, Christian

Publication type:

Article

Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 778, doi. 10.1002/humu.20358

By:

Fisher, Sheila A.;
Hampe, Jochen;
Onnie, Clive M.;
Daly, Mark J.;
Curley, Christine;
Purcell, Shaun;
Sanderson, Jeremy;
Mansfield, John;
Annese, Vito;
Forbes, Alastair;
Lewis, Cathryn M.;
Schreiber, Stefan;
Rioux, John D.;
Mathew, Christopher G.

Publication type:

Article

The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 786, doi. 10.1002/humu.20360

By:

Van Laer, Lut;
Carlsson, Per-Inge;
Ottschytsch, Natacha;
Bondeson, Marie-Louise;
Konings, Annelies;
Vandevelde, Ann;
Dieltjens, Nele;
Fransen, Erik;
Snyders, Dirk;
Borg, Erik;
Raes, Adam;
Van Camp, Guy

Publication type:

Article

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 760, doi. 10.1002/humu.20353

By:

Mátyás, Gábor;
Arnold, Eliane;
Carrel, Thierry;
Baumgartner, Daniela;
Boileau, Catherine;
Berger, Wolfgang;
Steinmann, Beat

Publication type:

Article