Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 2

Results: 24

Identification of the mutation in the alkaptonuria mouse model.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU15>3.0.CO;2-W

By:

Manning, Kara;
Fernández-Cañón, José M.;
Montagutelli, Xavier;
Grompe, Markus

Publication type:

Article

Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C

By:

Montejo, J.M.;
Magallón, M.;
Tizzano, E.;
Solera, J.

Publication type:

Article

Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 99, doi. 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C

By:

Oetting, William S.;
King, Richard A.

Publication type:

Article

Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 141, doi. 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q

By:

Dry, Katherine L.;
Manson, Forbes D.C.;
Lennon, Alan;
Bergen, Arthur A.B.;
Van Dorp, Dieuwke B.;
Wright, Alan F.

Publication type:

Article

A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 166, doi. 10.1002/(SICI)1098-1004(1999)13:2<166::AID-HUMU10>3.0.CO;2-X

By:

Strelnikov, V.;
Nemtsova, M.;
Chesnokova, G.;
Kuleshov, N.;
Zaletayev, D.

Publication type:

Article

Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU21>3.0.CO;2-0

By:

Dubourg, Christèle;
Odent, Sylvie;
Fergelot, Patricia;
Le Gall, Jean-Yves;
David, Véronique;
Blayau, Martine

Publication type:

Article

Identification of eleven novel tumor-associated e-cadherin mutations.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU14>3.0.CO;2-Z

By:

Becker, Karl-Friedrich;
Reich, Ulrike;
Schott, Christina;
Becker, Ingrid;
Berx, Geert;
van Roy, Frans;
Höfler, Heinz

Publication type:

Article

A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU18>3.0.CO;2-K

By:

Dang, Raymond K.B.;
Anthony, Robert S.;
Craig, Jenny I.O.;
Parker, Alastair C.

Publication type:

Article

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 133, doi. 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U

By:

Janecke, Andreas R.;
Meins, Moritz;
Sadeghi, Mojy;
Grundmann, Kathrin;
Apfelstedt-Sylla, Eckart;
Zrenner, Eberhart;
Rosenberg, Thomas;
Gal, Andreas

Publication type:

Article

Human genetic diseases of proteolysis.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 87, doi. 10.1002/(SICI)1098-1004(1999)13:2<87::AID-HUMU1>3.0.CO;2-K

By:

Kato, Gregory J.

Publication type:

Article

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 146, doi. 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I

By:

Barbosa, Angela S.;
Hadjiathanasiou, Charalambos G.;
Theodoridis, Charalambos;
Papathanasiou, Astéroula;
Tar, Attila;
Merksz, Miklós;
Györvári, Borbála;
Sultan, Charles;
Dumas, Robert;
Jaubert, Francis;
Niaudet, Patrick;
Moreira-Filho, Carlos A.;
Cotinot, Corinne;
Fellous, Marc

Publication type:

Article

Identification of a mutation in the human raloxifene response element of the transforming growth factor-β 3 gene.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU22>3.0.CO;2-V

By:

Han, Ki Ok;
Kang, Young Soon;
Moon, In Gul;
Chung, Ho Yeon;
Yoon, Hyun Koo;
Han, In Kwon;
Yang, In Myung;
Choi, Young Kil

Publication type:

Article

Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3

By:

Picci, Luigi;
Cameran, Marilena;
Olante, Paola;
Zacchello, Franco;
Scarpa, Maurizio

Publication type:

Article

Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU13>3.0.CO;2-4

By:

Andreutti-Zaugg, C.;
Couturier, A.;
Chappuis, P.;
Hutter, P.

Publication type:

Article

Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU24>3.0.CO;2-P

By:

Panicker, Shirly G.;
Mendell, Joshua T.;
Chen, Lei;
Feng, Bo;
Sahenk, Zarife;
Marzluf, George A.;
Amato, Anthony A.;
Mendell, Jerry R.

Publication type:

Article

Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N

By:

Witchel, Selma F.;
Smith, Rhonda;
Suda-Hartman, Makiko

Publication type:

Article

Detection of mutations in COL4A5 in patients with Alport Syndrome.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 124, doi. 10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z

By:

Plant, Kate E.;
Green, Peter M.;
Vetrie, David;
Flinter, Frances A.

Publication type:

Article

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 154, doi. 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E

By:

Merryweather-Clarke, Alison T.;
Siimonsen, Henrik;
Shearman, Jeremy D.;
Pointon, Jennifer J.;
Nørgaard-Pedersen, Bent;
Robson, Kathryn J.H.

Publication type:

Article

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7

By:

Ikezawa, Makoto;
Nishino, Ichizo;
Goto, Yu-ichi;
Miike, Teruhisa;
Nonaka, Ikuya

Publication type:

Article

Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 174, doi. 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU23>3.0.CO;2-S

By:

Wildenberg, Scott C.;
Fryer, James P.;
Oetting, William S.;
King, Richard A.

Publication type:

Article

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T

By:

Taillandier, A.;
Zurutuza, L.;
Muller, F.;
Simon-Bouy, B.;
Serre, J.L.;
Bird, L.;
Brenner, R.;
Boute, O.;
Cousin, J.;
Gaillard, D.;
Heidemann, P.H.;
Steinmann, B.;
Wallot, M.;
Mornet, E.

Publication type:

Article

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1999)13:2<116::AID-HUMU3>3.0.CO;2-2

By:

Giarola, Monica;
Stagi, Lisa;
Presciuttini, Silvano;
Mondini, Patrizia;
Radice, Maria T.;
Sala, Paola;
Pierotti, Marco A.;
Bertario, Lucio;
Radice, Paolo

Publication type:

Article

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU11>3.0.CO;2-A

By:

Sertié, Andréa L.;
Brahe, Christina;
Passos-Bueno, M. Rita

Publication type:

Article

Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified.

Published in:

Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E

By:

Rake, Jan Peter;
ten Berge, Annelies M.;
Verlind, Edwin;
Visser, Gepke;
Niezen-Koning, Klary E.;
Buys, Charles H.C.M.;
Smit, G. Peter A.;
Scheffer, Hans

Publication type:

Article