Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 1

Results: 18

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee ( Pan troglodytes).

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 45, doi. 10.1002/humu.20116

By:

Kehrer-Sawatzki, Hildegard;
Sandig, Catharina;
Chuzhanova, Nadia;
Goidts, Violaine;
Szamalek, Justyna M.;
Tänzer, Simone;
Müller, Stefan;
Platzer, Matthias;
Cooper, David N.;
Hameister, Horst

Publication type:

Article

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 100, doi. 10.1002/humu.9301

By:

Miočić, Snježana;
Filocamo, Mirella;
Dominissini, Silvia;
Montalvo, Anna Lisa E.;
Vlahoviček, Kristian;
Deganuto, Marta;
Mazzotti, Raffaella;
Cariati, Roberta;
Bembi, Bruno;
Pittis, Maria Gabriela

Publication type:

Article

HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 1, doi. 10.1002/humu.20112

By:

Kalmár, Lajos;
Hegedüs, Tamás;
Farkas, Henriette;
Nagy, Melinda;
Tordai, Attila

Publication type:

Article

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9297

By:

Ruf, Nico;
Uhlenberg, Birgit;
Terkeltaub, Robert;
Nürnberg, Peter;
Rutsch, Frank

Publication type:

Article

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 64, doi. 10.1002/humu.20111

By:

Sun, Y.;
Grimmler, M.;
Schwarzer, V.;
Schoenen, F.;
Fischer, U.;
Wirth, B.

Publication type:

Article

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 38, doi. 10.1002/humu.20110

By:

Frosk, Patrick;
Greenberg, Cheryl R.;
Tennese, Alysa A.P.;
Lamont, Ryan;
Nylen, Edward;
Hirst, Cheryl;
Frappier, Danielle;
Roslin, Nicole M.;
Zaik, Michaela;
Bushby, Kate;
Straub, Volker;
Zatz, Mayana;
de Paula, Flavia;
Morgan, Kenneth;
Fujiwara, T. Mary;
Wrogemann, Klaus

Publication type:

Article

Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 99, doi. 10.1002/humu.9300

By:

Giuliano, Fabienne;
Bannwarth, Sylvie;
Monnot, Sophie;
Cano, Aline;
Chabrol, Brigitte;
Vialettes, Bernard;
Delobel, Bruno;
Paquis-Flucklinger, Veronique

Publication type:

Article

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 100, doi. 10.1002/humu.9302

By:

Meyer, Christian G.;
Gasmelseed, Nagla M.;
Mergani, Adil;
Magzoub, Mubarak M.A.;
Muntau, Birgit;
Thye, Thorsten;
Horstmann, Rolf D.

Publication type:

Article

Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 18, doi. 10.1002/humu.20121

By:

Zellner, Christian;
Pullinger, Clive R.;
Aouizerat, Bradley E.;
Frost, Philip H.;
Kwok, Pui-Yan;
Malloy, Mary J.;
Kane, John P.

Publication type:

Article

Phenotology of disease-linked proteins.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 90, doi. 10.1002/humu.20118

By:

Myers, Jeffrey K.;
Beihoffer, Lauren A.;
Sanders, Charles R.

Publication type:

Article

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 72, doi. 10.1002/humu.20115

By:

Disset, Antoine;
Michot, Carine;
Harris, Ann;
Buratti, Emanuele;
Claustres, Mireille;
Tuffery-Giraud, Sylvie

Publication type:

Article

Molecular and muscle pathology in a series of caveolinopathy patients.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 82, doi. 10.1002/humu.20119

By:

Fulizio, Luigi;
Chiara Nascimbeni, Anna;
Fanin, Marina;
Piluso, Giulio;
Politano, Luisa;
Nigro, Vincenzo;
Angelini, Corrado

Publication type:

Article

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 56, doi. 10.1002/humu.20113

By:

Jiang, Y.L.;
Rigolet, M.;
Bourc'his, D.;
Nigon, F.;
Bokesoy, I.;
Fryns, J.P.;
Hultén, M.;
Jonveaux, P.;
Maraschio, P.;
Mégarbané, A.;
Moncla, A.;
Viegas-Péquignot, E.

Publication type:

Article

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 6, doi. 10.1002/humu.20114

By:

Soussi, Thierry;
Kato, Shunsuke;
Levy, Pierre P.;
Ishioka, Chikashi

Publication type:

Article

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 28, doi. 10.1002/humu.20107

By:

Malfait, Fransiska;
Coucke, Paul;
Symoens, Sofie;
Loeys, Bart;
Nuytinck, Lieve;
De Paepe, Anne

Publication type:

Article

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 99, doi. 10.1002/humu.9299

By:

Alonso, Javier;
Frayle, Helena;
Menéndez, Ibis;
López, Andrés;
García-Miguel, Purificación;
Abelairas, José;
Sarret, Enric;
Vendrell, M. Teresa;
Navajas, Aurora;
Artigas, Mercé;
Indiano, José M.;
Carbone, Ana;
Torrenteras, Christian;
Palacios, Itziar;
Pestaña, Angel

Publication type:

Article

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 22, doi. 10.1002/humu.20124

By:

Massa, Ornella;
Iafusco, Dario;
D'Amato, Elena;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Pasquino, Bruno;
Tonini, Giorgio;
Dammacco, Francesco;
Zanette, Giorgio;
Meschi, Franco;
Porzio, Ottavia;
Bottazzo, Gianfranco;
Crinó, Antonino;
Lorini, Renata;
Cerutti, Franco;
Vanelli, Maurizio;
Barbetti, Fabrizio

Publication type:

Article

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298

By:

Albuisson, Juliette;
Pêcheux, Chistophe;
Carel, Jean-Claude;
Lacombe, Didier;
Leheup, Bruno;
Lapuzina, Pablo;
Bouchard, Philippe;
Legius, Eric;
Matthijs, Gert;
Wasniewska, Malgorzata;
Delpech, Marc;
Young, Jacques;
Hardelin, Jean-Pierre;
Dodé, Catherine

Publication type:

Article