Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 4

Results: 23

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 308, doi. 10.1002/humu.20205

By:

Paik, Kyung Hoon;
Song, Seng Mi;
Ki, Chang Seok;
Yu, Han-Wook;
Kim, Jung Sim;
Min, Ki Hoon;
Chang, Soo Hee;
Yoo, Eun Jae;
Lee, In Jung;
Kwan, Eun Kyung;
Han, Sun Joo;
Jin, Dong-Kyu

Publication type:

Article

Whole genome SNP arrays using DNA derived from formalin-fixed, paraffin-embedded ovarian tumor tissue.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 384, doi. 10.1002/humu.20220

By:

Thompson, Ella R.;
Herbert, Shane C.;
Forrest, Susan M.;
Campbell, Ian G.

Publication type:

Article

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 395, doi. 10.1002/humu.9372

By:

Vigone, Maria Cristina;
Fugazzola, Laura;
Zamproni, Ilaria;
Passoni, Arianna;
Di Candia, Stefania;
Chiumello, Giuseppe;
Persani, Luca;
Weber, Giovanna

Publication type:

Article

Thromboxane synthase ( TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 394, doi. 10.1002/humu.9371

By:

Ulrich, Cornelia M.;
Carlson, Christopher S.;
Sibert, Justin;
Poole, Elizabeth M.;
Yu, Joon-Ho;
Wang, Lee-Ho;
Sparks, Rachel;
Potter, John D.;
Bigler, Jeannette

Publication type:

Article

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 394, doi. 10.1002/humu.9370

By:

Aceto, Gitana;
Cristina Curia, Maria;
Veschi, Serena;
De Lellis, Laura;
Mammarella, Sandra;
Catalano, Teresa;
Stuppia, Liborio;
Palka, Giandomenico;
Valanzano, Rosa;
Tonelli, Francesco;
Casale, Vincenzo;
Stigliano, Vittoria;
Cetta, Francesco;
Battista, Pasquale;
Mariani-Costantini, Renato;
Cama, Alessandro

Publication type:

Article

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 396, doi. 10.1002/humu.9374

By:

Santos, Regie Lyn P.;
Wajid, Muhammad;
Khan, Mohammad Nasim;
McArthur, Nathan;
Pham, Thanh L.;
Bhatti, Attya;
Lee, Kwanghyuk;
Irshad, Saba;
Mir, Asif;
Yan, Kai;
Chahrour, Maria H.;
Ansar, Muhammad;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 303, doi. 10.1002/humu.20232

By:

Cohn, Jonathan A.;
Neoptolemos, John P.;
Feng, Jinong;
Yan, Jin;
Jiang, Zefei;
Greenhalf, William;
McFaul, Christopher;
Mountford, Roger;
Sommer, Steve S.

Publication type:

Article

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 351, doi. 10.1002/humu.20236

By:

Eckl, Katja-Martina;
Krieg, Peter;
Küster, Wolfgang;
Traupe, Heiko;
André, Françoise;
Wittstruck, Nadine;
Fürstenberger, Gerhard;
Hennies, Hans Christian

Publication type:

Article

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 395, doi. 10.1002/humu.9373

By:

Vilarinho, L.;
Cardoso, M.L.;
Gaspar, P.;
Barbot, C.;
Azevedo, L.;
Diogo, L.;
Santos, M.;
Carrilho, I.;
Fineza, I.;
Kok, F.;
Chorão, R.;
Alegria, P.;
Martins, E.;
Teixeira, J.;
Cabral Fernandes, H.;
Verhoeven, N.M.;
Salomons, G.S.;
Santorelli, F.M.;
Cabral, P.;
Amorim, A.

Publication type:

Article

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 315, doi. 10.1002/humu.20229

By:

Todt, Unda;
Dichgans, Martin;
Jurkat-Rott, Karin;
Heinze, Axel;
Zifarelli, Giovanni;
Koenderink, Jan B.;
Goebel, Ingrid;
Zumbroich, Vera;
Stiller, Anne;
Ramirez, Alfredo;
Friedrich, Thomas;
Göbel, Hartmut;
Kubisch, Christian

Publication type:

Article

Linear allele-specific long-range amplification: a novel method of long-range molecular haplotyping.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 393, doi. 10.1002/humu.9369

By:

Wu, Wei-Ming;
Tsai, Hsiang-Ju;
Pang, Jong-Hwei S.;
Wang, Tzu-Hao;
Wang, Hsin-Shih;
Hong, Hong-Shang;
Lee, Yun-Shien

Publication type:

Article

Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 362, doi. 10.1002/humu.20230

By:

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

Publication type:

Article

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 322, doi. 10.1002/humu.20224

By:

Ilmarinen, Tanja;
Eskelin, Petra;
Halonen, Maria;
Rüppell, Taina;
Kilpikari, Riika;
Torres, Gilberto Duran;
Kangas, Hannele;
Ulmanen, Ismo

Publication type:

Article

Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 332, doi. 10.1002/humu.20228

By:

Inagaki, Hidehito;
Ohye, Tamae;
Kogo, Hiroshi;
Yamada, Kouji;
Kowa, Hiroe;
Shaikh, Tamim H.;
Emanuel, Beverly S.;
Kurahashi, Hiroki

Publication type:

Article

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/ TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 374, doi. 10.1002/humu.20227

By:

Rendtorff, Nanna D.;
Bjerregaard, Bolette;
Frödin, Morten;
Kjaergaard, Susanne;
Hove, Hanne;
Skovby, Flemming;
Brøndum-Nielsen, Karen;
Schwartz, Marianne

Publication type:

Article

Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 397, doi. 10.1002/humu.9376

By:

Ianzano, Leonarda;
Zhang, Junjun;
Chan, Elayne M.;
Zhao, Xiao-Chu;
Lohi, Hannes;
Scherer, Stephen W.;
Minassian, Berge A.

Publication type:

Article

The human TBX5 gene mutation database.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 397, doi. 10.1002/humu.9375

By:

Heinritz, Wolfram;
Shou, Lin;
Moschik, Andre;
Froster, Ursula G.

Publication type:

Article

A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 393, doi. 10.1002/humu.9368

By:

Alhopuro, Pia;
Parker, Antony R.;
Lehtonen, Rainer;
Enholm, Susa;
Järvinen, Heikki J.;
Mecklin, Jukka-Pekka;
Karhu, Auli;
Eshleman, James R.;
Aaltonen, Lauri A.

Publication type:

Article

Mutations in the human LKB1/STK11 gene.

Published in:

2005

By:

Launonen, Virpi

Publication type:

Other

Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 343, doi. 10.1002/humu.20226

By:

Savage, Sharon A.;
Stewart, Brian J.;
Eckert, Andrew;
Kiley, Maureen;
Liao, Jason S.;
Chanock, Stephen J.

Publication type:

Article

GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 390, doi. 10.1002/humu.20233

By:

Splendore, Alessandra;
Magalhães, Isis Q.;
Pombo-de-Oliveira, Maria S.

Publication type:

Article

Mutations in the holocarboxylase synthetase gene HLCS.

Published in:

2005

By:

Suzuki, Yoichi;
Yang, Xue;
Aoki, Yoko;
Kure, Shigeo;
Matsubara, Yoichi

Publication type:

Other

A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 298, doi. 10.1002/humu.20237

By:

Hopper, John L.;
Hayes, Vanessa M.;
Spurdle, Amanda B.;
Chenevix-Trench, Georgia;
Jenkins, Mark A.;
Milne, Roger L.;
Dite, Gillian S.;
Tesoriero, Andrea A.;
McCredie, Margaret R.E.;
Giles, Graham G.;
Southey, Melissa C.

Publication type:

Article