Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 8

Results: 16

ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 887, doi. 10.1002/humu.21510

By:

Sinha, Sujata;
Black, Michael L.;
Agarwal, Sarita;
Das, Reena;
Bittles, Alan H.;
Bellgard, Matthew

Publication type:

Article

Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 868, doi. 10.1002/humu.21520

By:

De Castro-Orós, Isabel;
Pampín, Sandra;
Bolado-Carrancio, Alfonso;
De Cubas, Aguirre;
Palacios, Lourdes;
Plana, Nuria;
Puzo, Jose;
Martorell, Esperanza;
Stef, Marianne;
Masana, Luis;
Civeira, Fernando;
Rodríguez-Rey, Jose Carlos;
Pocoví, Miguel

Publication type:

Article

Characterization of copy number-stable regions in the human genome.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 947, doi. 10.1002/humu.21524

By:

Johansson, Anna C.V.;
Feuk, Lars

Publication type:

Article

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 ( PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 956, doi. 10.1002/humu.21527

By:

Park, Jin-Sung;
Mehta, Prachi;
Cooper, Antony A.;
Veivers, David;
Heimbach, André;
Stiller, Barbara;
Kubisch, Christian;
Fung, Victor S.;
Krainc, Dimitri;
Mackay-Sim, Alan;
Sue, Carolyn M.

Publication type:

Article

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 965, doi. 10.1002/humu.21530

By:

Wu, Xiaoyang;
Katz, Evan;
Valle, Maria Cecilia Della;
Mascioli, Kirsten;
Flanagan, John J.;
Castelli, Jeffrey P.;
Schiffmann, Raphael;
Boudes, Pol;
Lockhart, David J.;
Valenzano, Kenneth J.;
Benjamin, Elfrida R.

Publication type:

Article

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 894, doi. 10.1002/humu.21517

By:

Liu, Xiaoming;
Jian, Xueqiu;
Boerwinkle, Eric

Publication type:

Article

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 912, doi. 10.1002/humu.21511

By:

Steiner, Bernhard;
Rosendahl, Jonas;
Witt, Heiko;
Teich, Niels;
Keim, Volker;
Schulz, Hans-Ulrich;
Pfützer, Roland;
Lühr, Matthias;
Gress, Thomas M.;
Nickel, Renate;
Landt, Olfert;
Koudova, Monika;
Macek, Milan;
Farre, Antoni;
Casals, Teresa;
Desax, Marie-Claire;
Gallati, Sabina;
Gomez-Lira, Macarena;
Audrezet, Marie Pierre;
Férec, Claude

Publication type:

Article

Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cells.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 939, doi. 10.1002/humu.21522

By:

Mendez-Bermudez, Aaron;
Royle, Nicola J.

Publication type:

Article

L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 978, doi. 10.1002/humu.21533

By:

Freeman, Peter;
Macfarlane, Catriona;
Collier, Pamela;
Jeffreys, Alec J.;
Badge, Richard M.

Publication type:

Article

Classifying variants of CDKN2A using computational and laboratory studies.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 900, doi. 10.1002/humu.21504

By:

Miller, Peter J.;
Duraisamy, Sekhar;
Newell, Joan A.;
Chan, Philip A.;
Tie, Mark M.;
Rogers, Amy E.;
Ankuda, Claire K.;
von Walstrom, Genevieve M.;
Bond, Jeffrey P.;
Greenblatt, Marc S.

Publication type:

Article

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder ( NOG-SSD).

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 877, doi. 10.1002/humu.21515

By:

Potti, Tommy A.;
Petty, Elizabeth M.;
Lesperance, Marci M.

Publication type:

Article

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 921, doi. 10.1002/humu.21519

By:

Nahorski, Michael S.;
Reiman, Anne;
Lim, Derek H.K.;
Nookala, Ravi K.;
Seabra, Laurence;
Lu, Xiaohong;
Fenton, Janine;
Boora, Uncaar;
Nordenskjöld, Magnus;
Latif, Farida;
Hurst, Laurence D.;
Maher, Eamonn R.

Publication type:

Article

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 930, doi. 10.1002/humu.21521

By:

Babbs, Christian;
Stewart, Helen S.;
Williams, Louise J.;
Connell, Lyndsey;
Goriely, Anne;
Twigg, Stephen R.F.;
Smith, Kim;
Lester, Tracy;
Wilkie, Andrew O.M.

Publication type:

Article

In Search of Genomic Stability: Characterizing Copy Number Stable Regions.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. v, doi. 10.1002/humu.21572

By:

Davis, Lea K.

Publication type:

Article

LPAR1 and ITGA4 regulate peripheral blood monocyte counts.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 873, doi. 10.1002/humu.21536

By:

Maugeri, Narelle;
Powell, Joseph E.;
't Hoen, Peter A.C.;
de Geus, Eco J.C.;
Willemsen, Gonneke;
Kattenberg, Mathijs;
Henders, Anjali K.;
Wallace, Leanne;
Penninx, Brenda;
Hottenga, Jouke-Jan;
Medland, Sarah E.;
Saviouk, Viatcheslav;
Martin, Nicholas G.;
Visscher, Peter M.;
van Ommen, Gert-Jan B.;
Frazer, Ian H.;
Boomsma, Dorret I.;
Montgomery, Grant W.;
Ferreira, Manuel A.R.

Publication type:

Article

Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 861, doi. 10.1002/humu.21518

By:

Bredenoord, Annelien L.;
Onland-Moret, N. Charlotte;
Van Delden, Johannes J.M.

Publication type:

Article