Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 3

Results: 30

Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 318, doi. 10.1002/humu.20150

By:

Chen, Jian-Min;
Chuzhanova, Nadia;
Stenson, Peter D.;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 278, doi. 10.1002/humu.20143

By:

Graf, Justin;
Hodgson, Richard;
van Daal, Angela

Publication type:

Article

Molecular diversity and thrombotic risk in protein S deficiency: The PROSIT study.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 259, doi. 10.1002/humu.20136

By:

Biguzzi, Eugenia;
Razzari, Cristina;
Lane, David A.;
Castaman, Giancarlo;
Cappellari, Antonio;
Bucciarelli, Paolo;
Fontana, Gessica;
Margaglione, Maurizio;
D'Andrea, Giovanna;
Simmonds, Rachel E.;
Rezende, Suely M.;
Preston, Roger;
Prisco, Domenico;
Faioni, Elena M.

Publication type:

Article

Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G<sub>M1</sub>-gangliosidosis.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 285, doi. 10.1002/humu.20147

By:

Caciotti, Anna;
Donati, Maria Alice;
Boneh, Avihu;
d'Azzo, Alessandra;
Federico, Antonio;
Parini, Rossella;
Antuzzi, Danielas;
Bardelli, Tiziana;
Nosi, Daniele;
Kimonis, Virginia;
Zammarchi, Enrico;
Morrone, Amelia

Publication type:

Article

Large genomic rearrangements in MECP2.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 324, doi. 10.1002/humu.9320

By:

Ravn, Kirstine;
Nielsen, Jytte Bieber;
Skjeldal, Ola Husbeth;
Kerr, Alison;
Hulten, Maj;
Schwartz, Marianne

Publication type:

Article

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 321, doi. 10.1002/humu.9313

By:

Jurkiewicz, Dorota;
Popowska, Ewa;
Gläser, Christiane;
Hansmann, Ingo;
Krajewska-Walasek, Małgorzata

Publication type:

Article

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9317

By:

Pastorino, L.;
Cusano, R.;
Nasti, S.;
Faravelli, F.;
Forzano, F.;
Baldo, C.;
Barile, M.;
Gliori, S.;
Muggianu, M.;
Ghigliotti, G.;
Lacaita, M.G.;
Lo Muzio, L.;
Bianchi-Scarra, G.

Publication type:

Article

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 239, doi. 10.1002/humu.20131

By:

Zavadáková, Petra;
Fowler, Brian;
Suormala, Terttu;
Novotna, Zorka;
Mueller, Peter;
Hennermann, Julia B.;
Zeman, Jiří;
Vilaseca, M. Antonia;
Vilarinho, Laura;
Gutsche, Sven;
Wilichowski, Ekkehard;
Horneff, Gerd;
Kožich, Viktor

Publication type:

Article

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 248, doi. 10.1002/humu.20142

By:

Nishiguchi, Koji M.;
Sandberg, Michael A.;
Gorji, Nasim;
Berson, Eliot L.;
Dryja, Thaddeus P.

Publication type:

Article

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 293, doi. 10.1002/humu.20146

By:

Caldovic, Ljubica;
Morizono, Hiroki;
Panglao, Maria G.;
Lopez, Giselle Y.;
Shi, Dashuang;
Summar, Marshall L.;
Tuchman, Mendel

Publication type:

Article

How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 314, doi. 10.1002/humu.20139

By:

Suzuki, Oscar T.;
Bagatini, Kelly;
Sertié, Andréa L.;
Passos-Bueno, Maria Rita

Publication type:

Article

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 225, doi. 10.1002/humu.20145

By:

Bergmann, Carsten;
Küpper, Fabian;
Dornia, Christian;
Schneider, Frank;
Senderek, Jan;
Zerres, Klaus

Publication type:

Article

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9312

By:

Abdalla, Salma A.;
Cymerman, Urszula;
Rushlow, Diane;
Chen, Ning;
Stoeber, Gwendolyn P.;
Lemire, Edmond G.;
Letarte, Michelle

Publication type:

Article

PIK3CA mutations in advanced ovarian carcinomas.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9316

By:

Wang, Yun;
Helland, Åslaug;
Holm, Ruth;
Kristensen, Gunnar B.;
Børresen-Dale, Anne-Lise

Publication type:

Article

Two novel mutations of the AIRE protein affecting its homodimerization properties.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 319, doi. 10.1002/humu.9309

By:

Meloni, A.;
Fiorillo, E.;
Corda, D.;
Perniola, R.;
Cao, A.;
Rosatelli, M. C.

Publication type:

Article

MALDI-TOF MS and TaqMan® assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET).

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 232, doi. 10.1002/humu.20141

By:

Jaremko, Malgorzata;
Justenhoven, Christina;
Abraham, Benny K.;
Schroth, Werner;
Fritz, Peter;
Brod, Sandra;
Vollmert, Caren;
Illig, Thomas;
Brauch, Hiltrud

Publication type:

Article

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9310

By:

Sbaragli, Michele;
Bibi, Lucia;
Pittis, Maria Gabriela;
Balducci, Chiara;
Heikinheimo, Pirkko;
Ricci, Roberta;
Antuzzi, Daniela;
Parini, Rossella;
Spaccini, Luigina;
Bembi, Bruno;
Beccari, Tommaso

Publication type:

Article

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9311

By:

Kuehl, Heidi K.A.;
Caselitz, Martin;
Hasenkamp, Sandra;
Wagner, Siegfried;
El-Harith, El-Harith A.;
Manns, Michael P.;
Stuhrmann, Manfred

Publication type:

Article

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 325, doi. 10.1002/humu.9322

By:

Servedio, Veronica;
d'Apolito, Maria;
Maiorano, Nunzia;
Minuti, Barbara;
Torricelli, Francesca;
Ronchi, Flavio;
Zancan, Lucia;
Perrotta, Silverio;
Vajro, Pietro;
Boschetto, Loredana;
Iolascon, Achille

Publication type:

Article

Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9315

By:

Park, Kyong Soo;
Shin, Hyoung Doo;
Park, Byung Lae;
Cheong, Hyun Sub;
Choa, Young Min;
Lee, Hong Kyu;
Lee, Jong-Young;
Lee, Jong-Keuk;
Kim, Hung Tae;
Han, Bok Ghee;
Kim, Jun Woo;
Koh, InSong;
Kim, Young Jin;
Kimm, Kuchan;
Oh, Bermseok

Publication type:

Article

Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 270, doi. 10.1002/humu.20138

By:

Li, Yonghong;
Hollingworth, Paul;
Moore, Pamela;
Foy, Catherine;
Archer, Nicola;
Powell, John;
Nowotny, Petra;
Holmans, Peter;
O'Donovan, Michael;
Tacey, Kristina;
Doil, Lisa;
van Luchene, Ryan;
Garcia, Veronica;
Rowland, Charles;
Lau, Kit;
Cantanese, Joseph;
Sninsky, John;
Hardy, John;
Thal, Leon;
Morris, John C.

Publication type:

Article

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 323, doi. 10.1002/humu.9319

By:

Odièvre, Marie-Hélène;
Chretien, Dominique;
Munnich, Arnold;
Robinson, Brian H.;
Dumoulin, Renée;
Masmoudi, Sahben;
Kadhom, Noman;
Rötig, Agnès;
Rustin, Pierre;
Bonnefont, Jean-Paul

Publication type:

Article

Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B<sub>12</sub> Metabolism.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 317, doi. 10.1002/humu.20149

By:

Lerner-Ellis, Jordan P.;
Dobson, C. Melissa;
Wai, Timothy;
Watkins, David;
Tirone, Jamie C.;
Leclerc, Daniel;
Doré, Carole;
Lepage, Pierre;
Gravel, Roy A.;
Rosenblatt, David S.

Publication type:

Article

A response to Suzuki et al. 'How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?'.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 316, doi. 10.1002/humu.20140

By:

Antonarakis, Stylianos E.;
Reymond, Alexandre;
Menzel, Olivier;
Bekkeheien, Reidunn CJ;
Fukai, Naomi;
Boye, Eileen;
Kosztolanyi, Gyorgy;
Aftimos, Salim;
Deutsch, Samuel;
Scott, Hamish S.;
Olsen, Bjorn R.;
Guipponi, Michel

Publication type:

Article

Detection of α-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 299, doi. 10.1002/humu.20144

By:

Shabbeer, Junaid;
Robinson, Misi;
Desnick, Robert J.

Publication type:

Article

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 306, doi. 10.1002/humu.20137

By:

Dobrowolski, Steven F.;
McKinney, Jason T.;
Amat di San Filippo, Cristina;
Giak Sim, Keow;
Wilcken, Bridget;
Longo, Nicola

Publication type:

Article

Novel somatic mutations in the BRCA1 gene in sporadic breast tumors.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 319, doi. 10.1002/humu.9308

By:

Janatova, Marketa;
Zikan, Michal;
Dundr, Pavel;
Matous, Bohuslav;
Pohlreich, Petr

Publication type:

Article

Two independent retrotransposon insertions at the same site within the coding region of BTK.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 324, doi. 10.1002/humu.9321

By:

Conley, Mary Ellen;
Partain, Julie D.;
Norland, Shannon M.;
Shurtleff, Sheila A.;
Kazazian, Haig H.

Publication type:

Article

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 321, doi. 10.1002/humu.9314

By:

Hübner, Christian A.;
Orth, Ulrike;
Senning, Arne;
Steglich, Cordula;
Kohlschütter, Alfried;
Korinthenberg, Rudolf;
Gal, Andreas

Publication type:

Article

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 323, doi. 10.1002/humu.9318

By:

Oetting, William S.;
Garrett, Sarah Savage;
Brott, Marcia;
King, Richard A.

Publication type:

Article