Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 7

Results: 25

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348

By:

Farrington-Rock, Claire;
Firestein, Marc H.;
Bicknell, Louise S.;
Superti-Furga, Andrea;
Bacino, Carlos A.;
Cormier-Daire, Valerie;
Le Merrer, Martine;
Baumann, Clarisse;
Roume, Joelle;
Rump, Patrick;
Verheij, Joke B.G.M.;
Sweeney, Elizabeth;
Rimoin, David L.;
Lachman, Ralph S.;
Robertson, Stephen P.;
Cohn, Daniel H.;
Krakow, Deborah

Publication type:

Article

Mutational spectrum of maple syrup urine disease in Spain.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 715, doi. 10.1002/humu.9428

By:

Rodríguez-Pombo, Pilar;
Navarrete, Rosa;
Merinero, Begoña;
Gómez-Puertas, Paulino;
Ugarte, Magdalena

Publication type:

Article

TGFBI gene mutations in corneal dystrophies.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 615, doi. 10.1002/humu.20334

By:

Kannabiran, Chitra;
Klintworth, Gordon K.

Publication type:

Article

Multiple displacement amplification to create a long-lasting source of DNA for genetic studies.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 603, doi. 10.1002/humu.20341

By:

Lovmar, Lovisa;
Syvänen, Ann-Christine

Publication type:

Article

A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9431

By:

Niel, F.;
Legendre, M.;
Bienvenu, T.;
Bieth, E.;
Lalau, G.;
Sermet, I.;
Bondeux, D.;
Boukari, R.;
Derelle, J.;
Levy, P.;
Ruszniewski, P.;
Martin, J.;
Costa, C.;
Goossens, M.;
Girodon, E.

Publication type:

Article

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 654, doi. 10.1002/humu.20340

By:

Hout, Annemarie H. van der;
Ouweland, Ans M.W. van den;
Luijt, Rob B. van der;
Gille, Hans J.P.;
Bodmer, Daniëlle;
Brüggenwirth, Hennie;
Mulder, Inge M.;
Vlies, Pieter van der;
Elfferich, Peter;
Huisman, Maarten T.;
Berge, Annelies M. ten;
Kromosoeto, Joan;
Jansen, Rumo P.M.;
Zon, Patrick H.A. van;
Vriesman, Thyrsa;
Arts, Neeltje;
Lange, Majella Boutmy-de;
Oosterwijk, Jan C.;
Meijers-Heijboer, Hanne;
Ausems, Margreet G.E.M.

Publication type:

Article

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 676, doi. 10.1002/humu.20345

By:

Guillet, Benoît;
Lambert, Thierry;
d'Oiron, Roseline;
Proulle, Valérie;
Plantier, Jean-Luc;
Rafowicz, Anne;
Peynet, Jocelyne;
Costa, Jean-Marc;
Bendelac, Laurence;
Laurian, Yves;
Lavergne, Jean-Maurice

Publication type:

Article

Werner syndrome and mutations of the WRN and LMNA genes in France.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 718, doi. 10.1002/humu.9435

By:

Uhrhammer, Nancy A.;
Lafarge, Laurence;
Santos, Laetitia Dos;
Domaszewska, Anna;
Lange, Magdalena;
Yang, Yong;
Aractingi, Selim;
Bessis, Didier;
Bignon, Yves-Jean

Publication type:

Article

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 718, doi. 10.1002/humu.9434

By:

Bruno, Claudio;
Cassandrini, Denise;
Martinuzzi, Andrea;
Toscano, Antonio;
Moggio, Maurizio;
Morandi, Lucia;
Servidei, Serena;
Mongini, Tiziana;
Angelini, Corrado;
Musumeci, Olimpia;
Comi, Giacomo P.;
Lamperti, Costanza;
Filosto, Massimiliano;
Zara, Federico;
Minetti, Carlo

Publication type:

Article

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene ( MCEE) results in mild methylmalonic aciduria.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 640, doi. 10.1002/humu.20373

By:

Bikker, H.;
Bakker, H.D.;
Abeling, N.G.G.M.;
Poll-The, B.T.;
Kleijer, W.J.;
Rosenblatt, D.S.;
Waterham, H.R.;
Wanders, R.J.A.;
Duran, M.

Publication type:

Article

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9430

By:

Pollitt, Rebecca;
McMahon, Robert;
Nunn, Janice;
Bamford, Robert;
Afifi, Amal;
Bishop, Nicholas;
Dalton, Ann

Publication type:

Article

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 720, doi. 10.1002/humu.9438

By:

Patin, Etienne;
Harmant, Christine;
Kidd, Ken K.;
Kidd, Judith;
Froment, Alain;
Mehdi, S. Qasim;
Sica, Lucas;
Heyer, Evelyne;
Quintana-Murci, Lluís

Publication type:

Article

In vitro analysis of genomic instability triggered by BRCA1 missense mutations.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 715, doi. 10.1002/humu.9427

By:

Quaresima, Barbara;
Faniello, Maria Concetta;
Baudi, Francesco;
Crugliano, Telma;
Cuda, Giovanni;
Costanzo, Francesco;
Venuta, Salvatore

Publication type:

Article

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 686, doi. 10.1002/humu.20336

By:

Kumar-Singh, Samir;
Theuns, Jessie;
Van Broeck, Bianca;
Pirici, Daniel;
Vennekens, Krist'l;
Corsmit, Ellen;
Cruts, Marc;
Dermaut, Bart;
Wang, Rong;
Van Broeckhoven, Christine

Publication type:

Article

Variation in retinitis pigmentosa-11 ( PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 644, doi. 10.1002/humu.20325

By:

Rivolta, Carlo;
McGee, Terri L.;
Frio, Thomas Rio;
Jensen, Roderick V.;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 696, doi. 10.1002/humu.20347

By:

Richards, Allan J.;
Laidlaw, Maureen;
Whittaker, Joanne;
Treacy, Becky;
Rai, Harjeet;
Bearcroft, Philip;
Baguley, David M.;
Poulson, Arabella;
Ang, Alan;
Scott, John D.;
Snead, Martin P.

Publication type:

Article

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 719, doi. 10.1002/humu.9437

By:

Müller, Felix B.;
Küster, Wolfgang;
Wodecki, Kerstin;
Almeida, Hiram;
Bruckner-Tuderman, Leena;
Krieg, Thomas;
Korge, Bernhard P.;
Arin, Meral J.

Publication type:

Article

Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 717, doi. 10.1002/humu.9433

By:

Lietman, Steven A.;
Kalinchinko, Natasha;
Deng, Xichao;
Kohanski, Ronald;
Levine, Michael A.

Publication type:

Article

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 667, doi. 10.1002/humu.20342

By:

Bossler, Aaron D.;
Richards, Jennifer;
George, Cicily;
Godmilow, Lynn;
Ganguly, Arupa

Publication type:

Article

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 633, doi. 10.1002/humu.20368

By:

Kalay, Ersan;
Li, Yun;
Uzumcu, Abdullah;
Uyguner, Oya;
Collin, Rob W.;
Caylan, Refik;
Ulubil-Emiroglu, Melike;
Kersten, Ferry F.J.;
Hafiz, Gunter;
van Wijk, Erwin;
Kayserili, Hulya;
Rohmann, Edyta;
Wagenstaller, Janine;
Hoefsloot, Lies H.;
Strom, Tim M.;
Nürnberg, Gudrun;
Baserer, Nermin;
den Hollander, Anneke I.;
Cremers, Frans P.M.;
Cremers, Cor W.R.J.

Publication type:

Article

A quality assessment survey of SNP genotyping laboratories.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 711, doi. 10.1002/humu.20346

By:

Lahermo, Päivi;
Liljedahl, Ulrika;
Alnaes, Grethe;
Axelsson, Tomas;
Brookes, Anthony J.;
Ellonen, Pekka;
Groop, Per-Henrik;
Halldén, Christer;
Holmberg, Dan;
Holmberg, Kristina;
Keinänen, Mauri;
Kepp, Katrin;
Kere, Juha;
Kiviluoma, Päivi;
Kristensen, Vessela;
Lindgren, Cecilia;
Odeberg, Jacob;
Osterman, Pia;
Parkkonen, Maija;
Saarela, Janna

Publication type:

Article

Mutations and polymorphisms in the human ornithine transcarbamylase ( OTC) gene.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 626, doi. 10.1002/humu.20339

By:

Yamaguchi, Saori;
Brailey, Lisa L.;
Morizono, Hiroki;
Bale, Allen E.;
Tuchman, Mendel

Publication type:

Article

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 719, doi. 10.1002/humu.9436

By:

El-Said, Mahmoud F.;
Badii, Ramin;
Bessisso, M.S.;
Shahbek, Noora;
El-Ali, Mariam G.;
El-Marikhie, Mariam;
El-Zyoid, M.;
Salem, M.S.Z.;
Bener, Abdulbari;
Hoffmann, Georg F.;
Zschocke, Johannes

Publication type:

Article

Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus.

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 717, doi. 10.1002/humu.9432

By:

Thomas, Sushma S.;
Li, Shuying S.;
Lampe, Johanna W.;
Potter, John D.;
Bigler, Jeannette

Publication type:

Article

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9429

By:

Upadhyaya, Meena;
Spurlock, Gill;
Majounie, Elisa;
Griffiths, Sian;
Forrester, Natalie;
Baser, Mike;
Huson, Susan M.;
Gareth Evans, D.;
Ferner, Rosalie

Publication type:

Article