Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 2

Results: 31

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Published in:

2009

By:

Frédéric, Melissa Yana;
Monino, Christine;
Marschall, Christoph;
Hamroun, Dalil;
Faivre, Laurence;
Jondeau, Guillaume;
Klein, Hanns-Georg;
Neumann, Luitgard;
Gautier, Elodie;
Binquet, Christine;
Maslen, Cheryl;
Godfrey, Maurice;
Gupta, Prateek;
Milewicz, Dianna;
Boileau, Catherine;
Claustres, Mireille;
Béroud, Christophe;
Collod-Béroud, Gwenaëlle

Publication type:

Other

A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 221, doi. 10.1002/humu.20839

By:

Davis, Ryan L.;
Homer, Vivienne M.;
George, Peter M.;
Brennan, Stephen O.

Publication type:

Article

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E330, doi. 10.1002/humu.20900

By:

Cullinane, Andrew R.;
Straatman-Iwanowska, Anna;
Seo, Jeong K.;
Ko, Jae S.;
Song, Kyung S.;
Gizewska, Maria;
Gruszfeld, Dariusz;
Gliwicz, Dorota;
Tuysuz, Beyhan;
Erdemir, Gulin;
Sougrat, Rachid;
Wakabayashi, Yoshiyuki;
Hinds, Rupert;
Barnicoat, Angela;
Mandel, Hanna;
Chitayat, David;
Fischler, Björn;
Garcia-Cazorla, Angels;
Knisely, A. S.;
Kelly, Deirdre A.

Publication type:

Article

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 212, doi. 10.1002/humu.20830

By:

Christensen, Karen E.;
Rohlicek, Charles V.;
Andelfinger, Gregor U.;
Michaud, Jacques;
Bigras, Jean-Luc;
Richter, Andrea;
MacKenzie, Robert E.;
Rozen, Rima

Publication type:

Article

Lynch syndrome deletions in unexpected places.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. v, doi. 10.1002/humu.20984

By:

de la Chapelle, Albert

Publication type:

Article

Understanding CNVs and disease: Simply not so simple.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. v, doi. 10.1002/humu.20983

By:

Paalman, Mark H.

Publication type:

Article

Transcriptional behavior of DMD gene duplications in DMD/BMD males.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E310, doi. 10.1002/humu.20881

By:

Gualandi, F.;
Neri, M.;
Bovolenta, M.;
Martoni, E.;
Rimessi, P.;
Fini, S.;
Spitali, P.;
Fabris, M.;
Pane, M.;
Angelini, C.;
Mora, M.;
Morandi, L.;
Mongini, T.;
Bertini, E.;
Ricci, E.;
Vattemi, G.;
Mercuri, E.;
Merlini, L.;
Ferlini, A.

Publication type:

Article

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888

By:

Thauvin-Robinet, Christel;
Franco, Brunella;
Saugier-Veber, Pascale;
Aral, Bernard;
Gigot, Nadège;
Donzel, Anne;
Van Maldergem, Lionel;
Bieth, Eric;
Layet, Valérie;
Mathieu, Michèle;
Teebi, Ahmad;
Lespinasse, James;
Callier, Patrick;
Mugneret, Francine;
Masurel-Paulet, Alice;
Gautier, Elodie;
Huet, Frédéric;
Teyssier, Jean-Raymond;
Tosi, Mario;
Frébourg, Thierry

Publication type:

Article

Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 228, doi. 10.1002/humu.20840

By:

Srinivasan, Balaji S.;
Doostzadeh, Jaleh;
Absalan, Farnaz;
Mohandessi, Sharareh;
Jalili, Roxana;
Bigdeli, Saharnaz;
Wang, Justin;
Mahadevan, Jaydev;
Lee, Caroline L.G.;
Davis, Ronald W.;
William Langston, J.;
Ronaghi, Mostafa

Publication type:

Article

Pleiotropic functional properties of androgen receptor mutants in prostate cancer.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 145, doi. 10.1002/humu.20848

By:

Bergerat, Jean-Pierre;
Céraline, Jocelyn

Publication type:

Article

Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E443, doi. 10.1002/humu.20926

By:

Bleicken, Caroline;
Loidi, Lourdes;
Dhir, Vivek;
Parajes, Silvia;
Quinteiro, Celsa;
Dominguez, Fernando;
Grötzinger, Joachim;
Sippell, Wolfgang G.;
Riepe, Felix G.;
Arlt, Wiebke;
Krone, Nils

Publication type:

Article

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924

By:

Brancati, Francesco;
Iannicelli, Miriam;
Travaglini, Lorena;
Mazzotta, Annalisa;
Bertini, Enrico;
Boltshauser, Eugen;
D'Arrigo, Stefano;
Emma, Francesco;
Fazzi, Elisa;
Gallizzi, Romina;
Gentile, Mattia;
Loncarevic, Damir;
Mejaski-Bosnjak, Vlatka;
Pantaleoni, Chiara;
Rigoli, Luciana;
Salpietro, Carmelo D.;
Signorini, Sabrina;
Stringini, Gilda Rita;
Verloes, Alain;
Zabloka, Dominika

Publication type:

Article

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 248, doi. 10.1002/humu.20852

By:

Taanman, Jan-Willem;
Rahman, Shamima;
Pagnamenta, Alistair T.;
Morris, Andrew A.M.;
Bitner-Glindzicz, Maria;
Wolf, Nicole I.;
Leonard, James V.;
Clayton, Peter T.;
Schapira, Anthony H.V.

Publication type:

Article

Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and sulfonylurea receptor 1 ( ABCC8) in diabetes mellitus and hyperinsulinism.

Published in:

2009

By:

Flanagan, Sarah E.;
Clauin, Séverine;
Bellanné-Chantelot, Christine;
de Lonlay, Pascale;
Harries, Lorna W.;
Gloyn, Anna L.;
Ellard, Sian

Publication type:

Other

Analysis of the DYSF mutational spectrum in a large cohort of patients.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E345, doi. 10.1002/humu.20910

By:

Krahn, Martin;
Béroud, Christophe;
Labelle, Véronique;
Nguyen, Karine;
Bernard, Rafaëlle;
Bassez, Guillaume;
Figarella-Branger, Dominique;
Fernandez, Carla;
Bouvenot, Julien;
Richard, Isabelle;
Ollagnon-Roman, Elisabeth;
Bevilacqua, Jorge A.;
Salvo, Eric;
Attarian, Shahram;
Chapon, Françoise;
Pellissier, Jean-François;
Pouget, Jean;
Hammouda, El Hadi;
Laforêt, Pascal;
Urtizberea, Jon Andoni

Publication type:

Article

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E386, doi. 10.1002/humu.20921

By:

van Oven, Mannis;
Kayser, Manfred

Publication type:

Article

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 274, doi. 10.1002/humu.20943

By:

Tanner, Gaby;
Glaus, Esther;
Barthelmes, Daniel;
Ader, Marius;
Fleischhauer, Johannes;
Pagani, Franco;
Berger, Wolfgang;
Neidhardt, John

Publication type:

Article

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E376, doi. 10.1002/humu.20920

By:

Goizet, Cyril;
Boukhris, Amir;
Mundwiller, Emeline;
Tallaksen, Chantal;
Forlani, Sylvie;
Toutain, Annick;
Carriere, Nathalie;
Paquis, Véronique;
Depienne, Christel;
Durr, Alexandra;
Stevanin, Giovanni;
Brice, Alexis

Publication type:

Article

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 197, doi. 10.1002/humu.20942

By:

Kovacs, Marietta E.;
Papp, Janos;
Szentirmay, Zoltan;
Otto, Szabolcs;
Olah, Edith

Publication type:

Article

A gene conversion hotspot in the human growth hormone ( GH1) gene promoter.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 239, doi. 10.1002/humu.20850

By:

Wolf, Andreas;
Millar, David S.;
Caliebe, Amke;
Horan, Martin;
Newsway, Vicky;
Kumpf, Dorothea;
Steinmann, Katharina;
Chee, Ik-Seung;
Lee, Young-Ho;
Mutirangura, Apiwat;
Pepe, Guglielmina;
Rickards, Olga;
Schmidtke, Jörg;
Schempp, Werner;
Chuzhanova, Nadia;
Kehrer-Sawatzki, Hildegard;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 204, doi. 10.1002/humu.20825

By:

Bochukova, Elena G.;
Roscioli, Tony;
Hedges, Dale J.;
Taylor, Indira B.;
Johnson, David;
David, David J.;
Deininger, Prescott L.;
Wilkie, Andrew O.M.

Publication type:

Article

FOXL2 mutations and genomic rearrangements in BPES.

Published in:

2009

By:

Beysen, Diane;
De Paepe, Anne;
De Baere, Elfride

Publication type:

Other

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E421, doi. 10.1002/humu.20923

By:

Trochet, Delphine;
Mathieu, Yves;
Pontual, Loïc de;
Savarirayan, Ravi;
Munnich, Arnold;
Brunet, Jean-François;
Lyonnet, Stanislas;
Goridis, Christo;
Amiel, Jeanne

Publication type:

Article

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 255, doi. 10.1002/humu.20861

By:

Tanner, Gaby;
Glaus, Esther;
Barthelmes, Daniel;
Ader, Marius;
Fleischhauer, Johannes;
Pagani, Franco;
Berger, Wolfgang;
Neidhardt, John

Publication type:

Article

Emerging themes and new challenges in defining the role of structural variation in human disease.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 135, doi. 10.1002/humu.20843

By:

Sharp, Andrew J.

Publication type:

Article

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E395, doi. 10.1002/humu.20887

By:

Symoens, Sofie;
Malfait, Fransiska;
Renard, Marjolijn;
André, Josette;
Hausser, Ingrid;
Loeys, Bart;
Coucke, Paul;
De Paepe, Anne

Publication type:

Article

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. 264, doi. 10.1002/humu.20842

By:

Tan, Ying-Cai;
Blumenfeld, Jon D.;
Anghel, Raluca;
Donahue, Stephanie;
Belenkaya, Rimma;
Balina, Marina;
Parker, Thomas;
Levine, Daniel;
Leonard, Debra G.B.;
Rennert, Hanna

Publication type:

Article

Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E338, doi. 10.1002/humu.20909

By:

Sleegers, Kristel;
Bettens, Karolien;
Brouwers, Nathalie;
Engelborghs, Sebastiaan;
van Miegroet, Helen;
De Deyn, Peter P;
Van Broeckhoven, Christine

Publication type:

Article

Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E451, doi. 10.1002/humu.20927

By:

Bleeker, Fonnet E.;
Lamba, Simona;
Rodolfo, Monica;
Scarpa, Aldo;
Leenstra, Sieger;
Vandertop, W. Peter;
Bardelli, Alberto

Publication type:

Article

Exaggerated status of 'novel' and 'pathogenic' mtDNA sequence variants due to inadequate database searches.

Published in:

2009

By:

Bandelt, Hans-Jürgen;
Salas, Antonio;
Taylor, Robert W.;
Yao, Yong-Gang

Publication type:

Other

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886

By:

Seifert, Wenke;
Holder-Espinasse, Muriel;
Kühnisch, Jirko;
Kahrizi, Kimia;
Tzschach, Andreas;
Garshasbi, Masoud;
Najmabadi, Hossein;
Walter Kuss, Andreas;
Kress, Wolfram;
Laureys, Geneviève;
Loeys, Bart;
Brilstra, Eva;
Mancini, Grazia M.S.;
Dollfus, Hélène;
Dahan, Karin;
Apse, Kira;
Christian Hennies, Hans;
Horn, Denise

Publication type:

Article