Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 1

Results: 31

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD- TGFBR2.

Published in:

2008

By:

Frederic, Melissa Yana;
Hamroun, Dalil;
Faivre, Laurence;
Boileau, Catherine;
Jondeau, Guillaume;
Claustres, Mireille;
Béroud, Christophe;
Collod-Béroud, Gwenaëlle

Publication type:

Other

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 190, doi. 10.1002/humu.20613

By:

Zeng, Fanyi;
Ren, Zhao-Rui;
Huang, Shang-Zhi;
Kalf, Margot;
Mommersteeg, Monique;
Smit, Maarten;
White, Stefan;
Jin, Chun-Lian;
Xu, Miao;
Zhou, Da-Wen;
Yan, Jing-Bin;
Chen, Mei-Jue;
van Beuningen, Rinie;
Huang, Shu-Zhen;
den Dunnen, Johan;
Zeng, Yi-Tao;
Wu, Ying

Publication type:

Article

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 65, doi. 10.1002/humu.20590

By:

Anczuków, Olga;
Ware, Mark D.;
Buisson, Monique;
Zetoune, Almoutassem B.;
Stoppa-Lyonnet, Dominique;
Sinilnikova, Olga M.;
Mazoyer, Sylvie

Publication type:

Article

Characterization of the interactions of human ZIC3 mutants with GLI3.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 99, doi. 10.1002/humu.20606

By:

Zhu, Lirong;
Zhou, Guisheng;
Poole, Suzanne;
Belmont, John W.

Publication type:

Article

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 130, doi. 10.1002/humu.20617

By:

Guipponi, Michel;
Toh, Min-Yen;
Tan, Justin;
Park, Daeho;
Hanson, Kelly;
Ballana, Ester;
Kwong, David;
Cannon, Ping Z.F.;
Wu, Qingyu;
Gout, Alex;
Delorenzi, Mauro;
Speed, Terence P.;
Smith, Richard J.H.;
Dahl, Henrik H.;
Petersen, Michael;
Teasdale, Rohan D.;
Estivill, Xavier;
Park, Woo Jin;
Scott, Hamish S.

Publication type:

Article

A new cover and new challenges for Human Mutation.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 1, doi. 10.1002/humu.20697

By:

Cutting, Garry R.;
Cotton, Richard G.H.

Publication type:

Article

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 198, doi. 10.1002/humu.20628

By:

Capriotti, Emidio;
Arbiza, Leonardo;
Casadio, Rita;
Dopazo, Joaquín;
Dopazo, Hernán;
Marti-Renom, Marc A.

Publication type:

Article

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 205, doi. 10.1002/humu.9515

By:

Schlotawa, Lars;
Steinfeld, Robert;
Figura, Kurt von;
Dierks, Thomas;
Gärtner, Jutta

Publication type:

Article

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 74, doi. 10.1002/humu.20601

By:

Upadhyaya, M.;
Kluwe, Lan;
Spurlock, G.;
Monem, Bisma;
Majounie, E.;
Mantripragada, K.;
Ruggieri, Martino;
Chuzhanova, N.;
Evans, D.G.;
Ferner, R.;
Thomas, N.;
Guha, A.;
Mautner, V.

Publication type:

Article

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 150, doi. 10.1002/humu.20623

By:

Callewaert, B.L.;
Willaert, A.;
Kerstjens-Frederikse, W.S.;
De Backer, J.;
Devriendt, K.;
Albrecht, B.;
Ramos-Arroyo, M.A.;
Doco-Fenzy, M.;
Hennekam, R.C.M.;
Pyeritz, R.E.;
Krogmann, O.N.;
Gillessen-kaesbach, G.;
Wakeling, E.L.;
Nik-zainal, S.;
Francannet, C.;
Mauran, P.;
Booth, C.;
Barrow, M.;
Dekens, R.;
Loeys, B.L.

Publication type:

Article

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 22, doi. 10.1002/humu.20605

By:

Lemos, Manuel C.;
Thakker, Rajesh V.

Publication type:

Article

Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) Syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 176, doi. 10.1002/humu.20593

By:

Stanczak, Christopher M.;
Chen, Zugen;
Nelson, Stanley F.;
Suchard, Marc;
McCabe, Edward R.B.;
McGhee, Sean

Publication type:

Article

GPCR NaVa database: natural variants in human G protein-coupled receptors.

Published in:

2008

By:

Kazius, Jeroen;
Wurdinger, Kerstin;
van Iterson, Maarten;
Kok, Joost;
Bäck, Thomas;
IJzerman, Ad P.

Publication type:

Other

Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 182, doi. 10.1002/humu.20609

By:

Hosono, Naoya;
Kubo, Michiaki;
Tsuchiya, Yumiko;
Sato, Hiroko;
Kitamoto, Takuya;
Saito, Susumu;
Ohnishi, Yozo;
Nakamura, Yusuke

Publication type:

Article

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 205, doi. 10.1002/humu.9514

By:

Vanakker, Olivier M.;
Leroy, Bart P.;
Coucke, Paul;
Bercovitch, Lionel G.;
Uitto, Jouni;
Viljoen, Dennis;
Terry, Sharon F.;
Van Acker, Petra;
Matthys, Dirk;
Loeys, Bart;
De Paepe, Anne

Publication type:

Article

Progranulin locus deletion in frontotemporal dementia.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 53, doi. 10.1002/humu.20651

By:

Gijselinck, I.;
van der Zee, J.;
Engelborghs, S.;
Goossens, D.;
Peeters, K.;
Mattheijssens, M.;
Corsmit, E.;
Del-Favero, J.;
De Deyn, P.P.;
Van Broeckhoven, C.;
Cruts, M.

Publication type:

Article

Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 91, doi. 10.1002/humu.20604

By:

De Leener, Anne;
Caltabiano, Gianluigi;
Erkan, Sanly;
Idil, Mehmet;
Vassart, Gilbert;
Pardo, Leonardo;
Costagliola, Sabine

Publication type:

Article

Functional analysis of promoter variants in the microsomal triglyceride transfer protein ( MTTP) gene.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 123, doi. 10.1002/humu.20615

By:

Rubin, Diana;
Schneider-Muntau, Alexandra;
Klapper, Maja;
Nitz, Inke;
Helwig, Ulf;
Fölsch, Ulrich R.;
Schrezenmeir, Jürgen;
Döring, Frank

Publication type:

Article

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 167, doi. 10.1002/humu.20637

By:

Zurflüh, Marcel R.;
Zschocke, Johannes;
Lindner, Martin;
Feillet, François;
Chery, Céline;
Burlina, Alberto;
Stevens, Raymond C.;
Thöny, Beat;
Blau, Nenad

Publication type:

Article

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 14, doi. 10.1002/humu.20589

By:

Sperandeo, Maria Pia;
Andria, Generoso;
Sebastio, Gianfranco

Publication type:

Article

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 206, doi. 10.1002/humu.9517

By:

Dupradeau, François-Yves;
Pissard, Serge;
Coulhon, Marie-Pierre;
Cadet, Estelle;
Foulon, Karine;
Fourcade, Christine;
Goossens, Michel;
Case, David Andrew;
Rochette, Jacques

Publication type:

Article

A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 113, doi. 10.1002/humu.20610

By:

Lin, Zhongning;
Zhang, Xuemei;
Tuo, Jingsheng;
Guo, Yongli;
Green, Bridgett;
Chan, Chi-Chao;
Tan, Wen;
Huang, Ying;
Ling, Wenhua;
Kadlubar, Fred F.;
Lin, Dongxin;
Ning, Baitang

Publication type:

Article

Recommendations for locus-specific databases and their curation.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 2, doi. 10.1002/humu.20650

By:

Cotton, R.G.H.;
Auerbach, A.D.;
Beckmann, J.S.;
Blumenfeld, O.O.;
Brookes, A.J.;
Brown, A.F.;
Carrera, P.;
Cox, D.W.;
Gottlieb, B.;
Greenblatt, M.S.;
Hilbert, P.;
Lehvaslaiho, H.;
Liang, P.;
Marsh, S.;
Nebert, D.W.;
Povey, S.;
Rossetti, S.;
Scriver, C.R.;
Summar, M.;
Tolan, D.R.

Publication type:

Article

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 83, doi. 10.1002/humu.20603

By:

McAlinden, Audrey;
Majava, Marja;
Bishop, Paul N.;
Perveen, Rahat;
Black, Graeme CM.;
Pierpont, Mary Ella;
Ala-Kokko, Leena;
Männikkö, Minna

Publication type:

Article

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614

By:

Frank, Valeska;
den Hollander, Anneke I.;
Brüchle, Nadina Ortiz;
Zonneveld, Marijke N.;
Nürnberg, Gudrun;
Becker, Christian;
Du Bois, Gabriele;
Kendziorra, Heide;
Roosing, Susanne;
Senderek, Jan;
Nürnberg, Peter;
Cremers, Frans P.M.;
Zerres, Klaus;
Bergmann, Carsten

Publication type:

Article

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 6, doi. 10.1002/humu.20654

By:

Wildeman, Martin;
van Ophuizen, Ernest;
den Dunnen, Johan T.;
Taschner, Peter E.M.

Publication type:

Article

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 159, doi. 10.1002/humu.20625

By:

Ameziane, Najim;
Errami, Abdellatif;
Léveillé, France;
Fontaine, Chantal;
de Vries, Yne;
van Spaendonk, Rosalina M.L.;
de Winter, Johan P.;
Pals, Gerard;
Joenje, Hans

Publication type:

Article

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 106, doi. 10.1002/humu.20607

By:

Schimpf, Simone;
Fuhrmann, Nico;
Schaich, Simone;
Wissinger, Bernd

Publication type:

Article

Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factors.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 142, doi. 10.1002/humu.20618

By:

Klapper, Maja;
Böhme, Mike;
Nitz, Inke;
Döring, Frank

Publication type:

Article

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 59, doi. 10.1002/humu.20588

By:

Köhler, Birgit;
Lin, Lin;
Ferraz-de-Souza, Bruno;
Wieacker, Peter;
Heidemann, Peter;
Schröder, Vanessa;
Biebermann, Heike;
Schnabel, Dirk;
Grüters, Annette;
Achermann, John C.

Publication type:

Article

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 206, doi. 10.1002/humu.9516

By:

Parodi, Sara;
Bachetti, Tiziana;
Lantieri, Francesca;
Duca, Marco Di;
Santamaria, Giuseppe;
Ottonello, Giancarlo;
Matera, Ivana;
Ravazzolo, Roberto;
Ceccherini, Isabella

Publication type:

Article