Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 9

Results: 13

Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 856, doi. 10.1002/humu.20522

By:

Fredriksen, Åse;
Meyer, Klaus;
Ueland, Per Magne;
Vollset, Stein Emil;
Grotmol, Tom;
Schneede, Jørn

Publication type:

Article

Novel Plexor™ SNP genotyping technology: comparisons with TaqMan<sup>®</sup> and homogenous MassEXTEND™ MALDI-TOF mass spectrometry.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 922, doi. 10.1002/humu.20533

By:

Tindall, E.A.;
Speight, G.;
Petersen, D.C.;
Padilla, E.J.D.;
Hayes, V.M.

Publication type:

Article

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 866, doi. 10.1002/humu.20524

By:

Grace, Marie E.;
Balwani, Manisha;
Nazarenko, Irina;
Prakash-Cheng, Ainu;
Desnick, Robert J.

Publication type:

Article

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 904, doi. 10.1002/humu.20535

By:

Ferdinandusse, Sacha;
Denis, Simone;
Hogenhout, Eveline M.;
Koster, Janet;
van Roermund, Carlo W.T.;
IJlst, Lodewijk;
Moser, Ann B.;
Wanders, Ronald J.A.;
Waterham, Hans R.

Publication type:

Article

Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 913, doi. 10.1002/humu.20528

By:

Xiao, Ming;
Gordon, Matthew P.;
Phong, Angie;
Ha, Connie;
Chan, Ting-Fung;
Cai, Dongmei;
Selvin, Paul R.;
Kwok, Pui-Yan

Publication type:

Article

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 846, doi. 10.1002/humu.20520

By:

Le Ber, Isabelle;
van der Zee, Julie;
Hannequin, Didier;
Gijselinck, Ilse;
Campion, Dominique;
Puel, Michèle;
Laquerrière, Annie;
De Pooter, Tim;
Camuzat, Agnès;
Van den Broeck, Marleen;
Dubois, Bruno;
Sellal, François;
Lacomblez, Lucette;
Vercelletto, Martine;
Thomas-Antérion, Catherine;
Michel, Bernard-François;
Golfier, Véronique;
Didic, Mira;
Salachas, François;
Duyckaerts, Charles

Publication type:

Article

Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532

By:

Rosenberg, Efraim H.;
Martínez Muñoz, Cristina;
Betsalel, Ofir T.;
van Dooren, Silvy J.M.;
Fernandez, Matilde;
Jakobs, Cornelis;
deGrauw, Ton J.;
Kleefstra, Tjitske;
Schwartz, Charles E.;
Salomons, Gajja S.

Publication type:

Article

The PAH gene, phenylketonuria, and a paradigm shift.

Published in:

2007

By:

Scriver, Charles R.

Publication type:

Other

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 882, doi. 10.1002/humu.20536

By:

Moulson, Casey L.;
Fong, Loren G.;
Gardner, Jennifer M.;
Farber, Emily A.;
Go, Gloriosa;
Passariello, Annalisa;
Grange, Dorothy K.;
Young, Stephen G.;
Miner, Jeffrey H.

Publication type:

Article

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 874, doi. 10.1002/humu.20529

By:

Salipante, Stephen J.;
Benson, Kathleen F.;
Luty, Joanna;
Hadavi, Valeh;
Kariminejad, Roxana;
Kariminejad, Mohamad H.;
Rezaei, Nima;
Horwitz, Marshall S.

Publication type:

Article

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 928, doi. 10.1002/humu.9505

By:

Comeglio, Paolo;
Johnson, Philip;
Arno, Gavin;
Brice, Glen;
Evans, Alison;
Aragon-Martin, José;
Silva, Filipe Pereira da;
Kiotsekoglou, Anatoli;
Child, Anne

Publication type:

Article

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 928, doi. 10.1002/humu.9504

By:

Annunziata, Ida;
Bouchè, Valentina;
Lombardi, Alessia;
Settembre, Carmine;
Ballabio, Andrea

Publication type:

Article

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 897, doi. 10.1002/humu.20534

By:

Karageorgos, Litsa;
Brooks, Doug A.;
Pollard, Anthony;
Melville, Elizabeth L.;
Hein, Leanne K.;
Clements, Peter R.;
Ketteridge, David;
Swiedler, Stuart J.;
Beck, Michael;
Giugliani, Roberto;
Harmatz, Paul;
Wraith, James E.;
Guffon, Nathalie;
Leão Teles, Elisa;
Sá Miranda, M. Clara;
Hopwood, John J.

Publication type:

Article