Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 6

Results: 24

The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 696, doi. 10.1002/humu.21493

By:

Qiu, JingHua;
Hutter, Pierre;
Rahner, Nils;
Patton, Simon;
Olschwang, Sylviane

Publication type:

Article

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2176, doi. 10.1002/humu.21478

By:

Hellebrand, Heide;
Sutter, Christian;
Honisch, Ellen;
Gross, Eva;
Wappenschmidt, Barbara;
Schem, Christian;
Deißler, Helmut;
Ditsch, Nina;
Gress, Verena;
Kiechle, Marion;
Bartram, Claus R.;
Schmutzler, Rita K.;
Niederacher, Dieter;
Arnold, Norbert;
Meindl, Alfons

Publication type:

Article

Comparison of Programs for in silico Assessment of Missense Substitutions.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. v, doi. 10.1002/humu.21532

By:

Tavtigian, Sean V.

Publication type:

Article

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2246, doi. 10.1002/humu.21485

By:

Benaglio, Paola;
McGee, Terri L.;
Capelli, Leonardo P.;
Harper, Shyana;
Berson, Eliot L.;
Rivolta, Carlo

Publication type:

Article

miRvar: A comprehensive database for genomic variations in microRNAs.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2226, doi. 10.1002/humu.21482

By:

Bhartiya, Deeksha;
Laddha, Saurabh V.;
Mukhopadhyay, Arijit;
Scaria, Vinod

Publication type:

Article

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 598, doi. 10.1002/humu.21475

By:

Lindahl, Katarina;
Barnes, Aileen M.;
Fratzl-Zelman, Nadja;
Whyte, Michael P.;
Hefferan, Theresa E.;
Makareeva, Elena;
Brusel, Marina;
Yaszemski, Michael J.;
Rubin, Carl-Johan;
Kindmark, Andreas;
Roschger, Paul;
Klaushofer, Klaus;
McAlister, William H.;
Mumm, Steven;
Leikin, Sergey;
Kessler, Efrat;
Boskey, Adele L.;
Ljunggren, Östen;
Marini, Joan C.

Publication type:

Article

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 579, doi. 10.1002/humu.21406

By:

Häberle, Johannes;
Shchelochkov, Oleg A.;
Wang, Jing;
Katsonis, Panagiotis;
Hall, Lynn;
Reiss, Sara;
Eeds, Angela;
Willis, Alecia;
Yadav, Meeta;
Summar, Samantha;
Lichtarge, Olivier;
Rubio, Vicente;
Wong, Lee-Jun;
Summar, Marshall

Publication type:

Article

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase ( IDUA) alleles.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2189, doi. 10.1002/humu.21479

By:

Bertola, Francesca;
Filocamo, Mirella;
Casati, Giorgio;
Mort, Matthew;
Rosano, Camillo;
Tylki-Szymanska, Anna;
Tüysüz, Beyhan;
Gabrielli, Orazio;
Grossi, Serena;
Scarpa, Maurizio;
Parenti, Giancarlo;
Antuzzi, Daniela;
Dalmau, Jaime;
Rocco, Maja Di;
Vici, Carlo Dionisi;
Okur, Ilyas;
Rosell, Jordi;
Rovelli, Attilio;
Furlan, Francesca;
Rigoldi, Miriam

Publication type:

Article

Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 643, doi. 10.1002/humu.21486

By:

Ben-Ali, Meriem;
Corre, Beatrice;
Manry, Jérémy;
Barreiro, Luis B.;
Quach, Hélène;
Boniotto, Michele;
Pellegrini, Sandra;
Quintana-Murci, Lluís

Publication type:

Article

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 573, doi. 10.1002/humu.21507

By:

Shaheen, Ranad;
Faqeih, Eissa;
Seidahmed, Mohammed Z.;
Sunker, Asma;
Alali, Faten Ezzat;
Khadijah, AlQahtani;
Alkuraya, Fowzan S.

Publication type:

Article

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2211, doi. 10.1002/humu.21481

By:

Rotthier, Annelies;
Penno, Anke;
Rautenstrauss, Bernd;
Auer-Grumbach, Michaela;
Stettner, Georg M.;
Asselbergh, Bob;
Van Hoof, Kim;
Sticht, Heinrich;
Lévy, Nicolas;
Timmerman, Vincent;
Hornemann, Thorsten;
Janssens, Katrien

Publication type:

Article

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A ( GLA) deletions causing Fabry disease.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 688, doi. 10.1002/humu.21474

By:

Dobrovolny, Robert;
Nazarenko, Irina;
Kim, Jungmin;
Doheny, Dana;
Desnick, Robert J.

Publication type:

Article

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 669, doi. 10.1002/humu.21488

By:

Choi, Byung-Ok;
Hee Kang, Sung;
Hyun, Young Se;
Kanwal, Sumaria;
Park, Sun Wha;
Koo, Heasoo;
Kim, Sang-Beom;
Choi, Young-Chul;
Yoo, Jeong Hyun;
Kim, Jong-Won;
Park, Kee Duk;
Choi, Kyoung-Gyu;
Ja Kim, Song;
Züchner, Stephan;
Chung, Ki Wha

Publication type:

Article

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2134, doi. 10.1002/humu.21476

By:

Vogt, Julia;
Kohlhase, Jürgen;
Morlot, Susanne;
Kluwe, Lan;
Mautner, Victor-Felix;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 653, doi. 10.1002/humu.21489

By:

Thiele, Susanne;
de Sanctis, Luisa;
Werner, Ralf;
Grötzinger, Joachim;
Aydin, Cumhur;
Jüppner, Harald;
Bastepe, Murat;
Hiort, Olaf

Publication type:

Article

Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 698, doi. 10.1002/humu.21473

By:

Patrinos, George P.;
Innocenti, Federico;
Cox, Nancy;
Fortina, Paolo

Publication type:

Article

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480

By:

Deveault, Catherine;
Billingsley, Gail;
Duncan, Jacque L.;
Bin, Jenea;
Theal, Rebecca;
Vincent, Ajoy;
Fieggen, Karen J.;
Gerth, Christina;
Noordeh, Nima;
Traboulsi, Elias I.;
Fishman, Gerald A.;
Chitayat, David;
Knueppel, Tanja;
Millán, José M.;
Munier, Francis L.;
Kennedy, Debra;
Jacobson, Samuel G.;
Innes, A. Micheil;
Mitchell, Grant A.;
Boycott, Kym

Publication type:

Article

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 590, doi. 10.1002/humu.21455

By:

Ducamp, Sarah;
Kannengiesser, Caroline;
Touati, Mohamed;
Garçon, Loïc;
Guerci-Bresler, Agnès;
Guichard, Jean François;
Vermylen, Christiane;
Dochir, Joaquim;
Poirel, Hélène A.;
Fouyssac, Fanny;
Mansuy, Ludovic;
Leroux, Geneviève;
Tertian, Gérard;
Girot, Robert;
Heimpel, Hermann;
Matthes, Thomas;
Talbi, Neila;
Deybach, Jean-Charles;
Beaumont, Carole;
Puy, Hervé

Publication type:

Article

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 633, doi. 10.1002/humu.21484

By:

Manry, Jérémy;
Laval, Guillaume;
Patin, Etienne;
Fornarino, Simona;
Tichit, Magali;
Bouchier, Christiane;
Barreiro, Luis B.;
Quintana-Murci, Lluis

Publication type:

Article

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495

By:

Whiley, Phillip J.;
Guidugli, Lucia;
Walker, Logan C.;
Healey, Sue;
Thompson, Bryony A.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Investigators, kConFab;
Tavtigian, Sean V.;
Goldgar, David E.;
Brown, Melissa A.;
Couch, Fergus J.;
Spurdle, Amanda B.

Publication type:

Article

Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. E2148, doi. 10.1002/humu.21477

By:

Wei, Xiaomu;
Moncada-Pazos, Angela;
Cal, Santiago;
Soria-Valles, Clara;
Gartner, Jared;
Rudloff, Udo;
Lin, Jimmy C.;
Rosenberg, Steven A.;
López-Otín, Carlos;
Samuels, Yardena

Publication type:

Article

Classical Investigation of Incomplete Collagen C-propeptide Processing Reveals a Distinctive High Bone Mass OI Phenotype.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. v, doi. 10.1002/humu.21531

By:

Qi, Ming

Publication type:

Article

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 661, doi. 10.1002/humu.21490

By:

Hicks, Stephanie;
Wheeler, David A.;
Plon, Sharon E.;
Kimmel, Marek

Publication type:

Article

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 620, doi. 10.1002/humu.21483

By:

Ivanov, Dobril;
Hamby, Stephen E.;
Stenson, Peter D.;
Phillips, Andrew D.;
Kehrer-Sawatzki, Hildegard;
Cooper, David N.;
Chuzhanova, Nadia

Publication type:

Article