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