Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 4

Results: 33

Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 661, doi. 10.1002/humu.20931

By:

Polakova, V.;
Pardini, B.;
Naccarati, A.;
Landi, S.;
Slyskova, J.;
Novotny, J.;
Vodickova, L.;
Bermejo, J. L.;
Hanova, M.;
Smerhovsky, Z.;
Tulupova, E.;
Kumar, R.;
Hemminki, K.;
Vodicka, P.

Publication type:

Article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935

By:

de Pontual, Loïc;
Mathieu, Yves;
Golzio, Christelle;
Rio, Marlène;
Malan, Valérie;
Boddaert, Nathalie;
Soufflet, Christine;
Picard, Capucine;
Durandy, Anne;
Dobbie, Angus;
Heron, Delphine;
Isidor, Bertrand;
Motte, Jacques;
Newburry-Ecob, Ruth;
Pasquier, Laurent;
Tardieu, Marc;
Viot, Géraldine;
Jaubert, Francis;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 625, doi. 10.1002/humu.20906

By:

ElSharawy, Abdou;
Hundrieser, Bernd;
Brosch, Mario;
Wittig, Michael;
Huse, Klaus;
Platzer, Matthias;
Becker, Albert;
Simon, Matthias;
Rosenstiel, Philip;
Schreiber, Stefan;
Krawczak, Michael;
Hampe, Jochen

Publication type:

Article

Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 677, doi. 10.1002/humu.20946

By:

Ménard, Vincent;
Girard, Hugo;
Harvey, Mario;
Pérusse, Louis;
Guillemette, Chantal

Publication type:

Article

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 583, doi. 10.1002/humu.20872

By:

Deuquet, Julie;
Abrami, Laurence;
Difeo, Analisa;
Ramirez, Maria Celeste M.;
Martignetti, John A.;
van der Goot, F. Gisou

Publication type:

Article

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. E541, doi. 10.1002/humu.20982

By:

Roessler, Erich;
Lacbawan, Felicitas;
Dubourg, Christèle;
Paulussen, Aimee;
Herbergs, Jos;
Hehr, Ute;
Bendavid, Claude;
Zhou, Nan;
Ouspenskaia, Maia;
Bale, Sherri;
Odent, Sylvie;
David, Vèronique;
Muenke, Maximilian

Publication type:

Article

DMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 633, doi. 10.1002/humu.20913

By:

Gurvich, Olga L.;
Maiti, Baijayanta;
Weiss, Robert B.;
Aggarwal, Gaurav;
Howard, Michael T.;
Flanigan, Kevin M.

Publication type:

Article

S-adenosylhomocysteine hydrolase (AHCY) deficiency: Two novel mutations with lethal outcome.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. E555, doi. 10.1002/humu.20985

By:

Vugrek, Oliver;
Belužić, Robert;
Nakić, Nikolina;
Mudd, S. Harvey

Publication type:

Article

Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Published in:

2009

By:

Margraf, Rebecca L.;
Crockett, David K.;
Krautscheid, Patti M.F.;
Seamons, Ryan;
Calderon, Fernanda R.O.;
Wittwer, Carl T.;
Mao, Rong

Publication type:

Other

After All, Size May Matter.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. vii, doi. 10.1002/humu.21014

By:

Beckmann, Jacques

Publication type:

Article

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Published in:

2009

By:

Nobile, Carlo;
Michelucci, Roberto;
Andreazza, Simonetta;
Pasini, Elena;
Tosatto, Silvio C.E.;
Striano, Pasquale

Publication type:

Other

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 ( PCSK9) gene in cholesterol metabolism and disease.

Published in:

2009

By:

Abifadel, Marianne;
Rabès, Jean-Pierre;
Devillers, Martine;
Munnich, Arnold;
Erlich, Danièle;
Junien, Claudine;
Varret, Mathilde;
Boileau, Catherine

Publication type:

Other

Partial deletion of the MAPT gene: A novel mechanism of FTDP-17.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. E591, doi. 10.1002/humu.20979

By:

Rovelet-Lecrux, Anne;
Lecourtois, Magalie;
Thomas-Anterion, Catherine;
Le Ber, Isabelle;
Brice, Alexis;
Frebourg, Thierry;
Hannequin, Didier;
Campion, Dominique

Publication type:

Article

The SAAPdb web resource: A large-scale structural analysis of mutant proteins.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 616, doi. 10.1002/humu.20898

By:

Hurst, Jacob M.;
McMillan, Lisa E.M.;
Porter, Craig T.;
Allen, James;
Fakorede, Adebola;
Martin, Andrew C.R.

Publication type:

Article

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1.

Published in:

2009

By:

Herman, Matthew L.;
Farasat, Sharifeh;
Steinbach, Peter J.;
Wei, Ming-Hui;
Toure, Ousmane;
Fleckman, Philip;
Blake, Patrick;
Bale, Sherri J.;
Toro, Jorge R.

Publication type:

Other

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955

By:

Sarkozy, Anna;
Carta, Claudio;
Moretti, Sonia;
Zampino, Giuseppe;
Digilio, Maria C.;
Pantaleoni, Francesca;
Scioletti, Anna Paola;
Esposito, Giorgia;
Cordeddu, Viviana;
Lepri, Francesca;
Petrangeli, Valentina;
Dentici, Maria L.;
Mancini, Grazia M.S.;
Selicorni, Angelo;
Rossi, Cesare;
Mazzanti, Laura;
Marino, Bruno;
Ferrero, Giovanni B.;
Silengo, Margherita Cirillo;
Memo, Luigi

Publication type:

Article

No association between CALHM1 and risk for Alzheimer dementia in a Belgian population.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. E570, doi. 10.1002/humu.20990

By:

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

Publication type:

Article

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 641, doi. 10.1002/humu.20916

By:

Chung, Boi-Dinh;
Kayserili, Hülya;
Ai, Minrong;
Freudenberg, Jan;
Üzümcü, Abdullah;
Uyguner, Oya;
Bartels, Cynthia F.;
Höning, Stefan;
Ramirez, Alfredo;
Hanisch, Franz-Georg;
Nürnberg, Gudrun;
Nürnberg, Peter;
Warman, Matthew L.;
Wollnik, Bernd;
Kubisch, Christian;
Netzer, Christian

Publication type:

Article

Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 575, doi. 10.1002/humu.20853

By:

Kereszturi, Éva;
Szmola, Richárd;
Kukor, Zoltán;
Simon, Peter;
Ulrich Weiss, Frank;
Lerch, Markus M.;
Sahin-Tóth, Miklós

Publication type:

Article

Data Sharing: Standards for Bioinformatic Cross-Talk.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. vii, doi. 10.1002/humu.21013

By:

Ostell, James

Publication type:

Article

No association between CALHM1 variation and risk of Alzheimer disease.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. E566, doi. 10.1002/humu.20989

By:

Minster, Ryan L.;
Demirci, F. Yesim;
DeKosky, Steven T.;
Kamboh, M. Ilyas

Publication type:

Article

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Published in:

2009

By:

Tomatsu, Shunji;
Montaño, Adriana M.;
Dung, Vu Chi;
Grubb, Jeffrey H.;
Sly, William S.

Publication type:

Other

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. E575, doi. 10.1002/humu.20991

By:

Zullo, Alberto;
Klingler, Werner;
De Sarno, Claudia;
Ferrara, Marina;
Fortunato, Giuliana;
Perrotta, Giuseppa;
Gravino, Elvira;
Di Noto, Rosella;
Lehmann-Horn, Frank;
Melzer, Werner;
Salvatore, Francesco;
Carsana, Antonella

Publication type:

Article

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 649, doi. 10.1002/humu.20922

By:

Hamid, Rizwan;
Cogan, Joy D.;
Hedges, Lora K.;
Austin, Eric;
Phillips, John A;
Newman, John H.;
Loyd, James E.

Publication type:

Article

Sharing data between LSDBs and central repositories.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 493, doi. 10.1002/humu.20977

By:

den Dunnen, Johan T.;
Sijmons, Rolf H.;
Andersen, Paal S.;
Vihinen, Mauno;
Beckmann, Jacques S.;
Rossetti, Sandro;
Talbot, C. Conover;
Hardison, Ross C.;
Povey, Sue;
Cotton, Richard G.H.

Publication type:

Article

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 688, doi. 10.1002/humu.20950

By:

Corrado, Lucia;
Ratti, A.;
Gellera, C.;
Buratti, E.;
Castellotti, B.;
Carlomagno, Y.;
Ticozzi, N.;
Mazzini, L.;
Testa, L.;
Taroni, F.;
Baralle, F. E.;
Silani, V.;
D'Alfonso, S.

Publication type:

Article

Planning the Human Variome Project: The Spain report.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 496, doi. 10.1002/humu.20972

By:

Kaput, Jim;
Cotton, Richard G.H.;
Hardman, Lauren;
Watson, Michael;
Al Aqeel, Aida I.;
Al-Aama, Jumana Y.;
Al-Mulla, Fahd;
Alonso, Santos;
Aretz, Stefan;
Auerbach, Arleen D.;
Bapat, Bharati;
Bernstein, Inge T.;
Bhak, Jong;
Bleoo, Stacey L.;
Blöcker, Helmut;
Brenner, Steven E.;
Burn, John;
Bustamante, Mariona;
Calzone, Rita;
Cambon-Thomsen, Anne

Publication type:

Article

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 557, doi. 10.1002/humu.20834

By:

Ohno, Seiko;
Toyoda, Futoshi;
Zankov, Dimitar P;
Yoshida, Hidetada;
Makiyama, Takeru;
Tsuji, Keiko;
Honda, Toshihiro;
Obayashi, Kazuhiko;
Ueyama, Hisao;
Shimizu, Wataru;
Miyamoto, Yoshihiro;
Kamakura, Shiro;
Matsuura, Hiroshi;
Kita, Toru;
Horie, Minoru

Publication type:

Article

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 564, doi. 10.1002/humu.20845

By:

Kannengiesser, Caroline;
Brookes, Sharon;
del Arroyo, Anna Gutierrez;
Pham, Danielle;
Bombled, Johny;
Barrois, Michel;
Mauffret, Olivier;
Avril M, Marie-Françoise;
Chompret, Agnès;
Lenoir, Gilbert M.;
Sarasin, Alain;
Peters, Gordon;
Paillerets, Brigitte Bressac-de

Publication type:

Article

Increasing the number of diagnostic mutations in malignant hyperthermia.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 590, doi. 10.1002/humu.20878

By:

Levano, Soledad;
Vukcevic, Mirko;
Singer, Martine;
Matter, Anja;
Treves, Susan;
Urwyler, Albert;
Girard, Thierry

Publication type:

Article

Interaction between PHOX2B and CREBBP mediates synergistic activation: Mechanistic implications of PHOX2B mutants.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 655, doi. 10.1002/humu.20929

By:

Wu, Han-Tsang;
Su, Yi-Ning;
Hung, Chia-Cheng;
Hsieh, Wu-Shiun;
Wu, Kou-Juey

Publication type:

Article

Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 609, doi. 10.1002/humu.20895

By:

Lin, Rong;
Wang, Xiaofeng;
Wang, Yi;
Zhang, Feng;
Wang, Ying;
Fu, Wenqing;
Yu, Ting;
Li, Shilin;
Xiong, Momiao;
Huang, Wei;
Jin, Li

Publication type:

Article

Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 599, doi. 10.1002/humu.20884

By:

Choi, Byung Yoon;
Stewart, Andrew K.;
Madeo, Anne C.;
Pryor, Shannon P.;
Lenhard, Suzanne;
Kittles, Rick;
Eisenman, David;
Jeffrey Kim, H.;
Niparko, John;
Thomsen, James;
Arnos, Kathleen S.;
Nance, Walter E.;
King, Kelly A.;
Zalewski, Christopher K.;
Brewer, Carmen C.;
Shawker, Thomas;
Reynolds, James C.;
Butman, John A.;
Karniski, Lawrence P.;
Alper, Seth L.

Publication type:

Article