Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 8

Results: 18

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 966, doi. 10.1002/humu.21300

By:

Miyake, Noriko;
Kosho, Tomoki;
Mizumoto, Shuji;
Furuichi, Tatsuya;
Hatamochi, Atsushi;
Nagashima, Yoji;
Arai, Eiichi;
Takahashi, Kazuo;
Kawamura, Rie;
Wakui, Keiko;
Takahashi, Jun;
Kato, Hiroyuki;
Yasui, Hiroshi;
Ishida, Tadao;
Ohashi, Hirofumi;
Nishimura, Gen;
Shiina, Masaaki;
Saitsu, Hirotomo;
Tsurusaki, Yoshinori;
Doi, Hiroshi

Publication type:

Article

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 950, doi. 10.1002/humu.21292

By:

Igreja, Susana;
Chahal, Harvinder S.;
King, Peter;
Bolger, Graeme B.;
Srirangalingam, Umasuthan;
Guasti, Leonardo;
Chapple, J. Paul;
Trivellin, Giampaolo;
Gueorguiev, Maria;
Guegan, Katie;
Stals, Karen;
Khoo, Bernard;
Kumar, Ajith V.;
Ellard, Sian;
Grossman, Ashley B.;
Korbonits, Márta

Publication type:

Article

Type I hyperprolinemia: genotype/phenotype correlations.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 961, doi. 10.1002/humu.21296

By:

Guilmatre, Audrey;
Legallic, Solenn;
Steel, Gary;
Willis, Alecia;
Di Rosa, Gabriella;
Goldenberg, Alice;
Drouin-Garraud, Valérie;
Guet, Agnès;
Mignot, Cyril;
Des Portes, Vincent;
Valayannopoulos, Vassili;
Van Maldergem, Lionel;
Hoffman, Jodi D.;
Izzi, Claudia;
Espil-Taris, Caroline;
Orcesi, Simona;
Bonafé, Luisa;
Le Galloudec, Eric;
Maurey, Hélène;
Ioos, Christine

Publication type:

Article

Molecular spectrum of SLC22A5 ( OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1632, doi. 10.1002/humu.21311

By:

Li, Fang-Yuan;
El-Hattab, Ayman W.;
Bawle, Erawati V.;
Boles, Richard G.;
Schmitt, Eric S.;
Scaglia, Fernando;
Wong, Lee-Jun

Publication type:

Article

Next Gen Exome Sequencing Reveals Mutations in a Rare Recessive Disorder.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. v, doi. 10.1002/humu.21319

By:

Taylor, Graham R.

Publication type:

Article

dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancer.

Published in:

2010

By:

Savas, Sevtap;
Younghusband, H. Banfield

Publication type:

Other

Short rare MUC6 minisatellites-5 alleles influence susceptibility to gastric carcinoma by regulating gene.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 942, doi. 10.1002/humu.21289

By:

Kwon, Jeong-Ah;
Lee, Sang-Yeop;
Ahn, Eun-Kyung;
Seol, So-Young;
Kim, Min Chan;
Kim, Su Jin;
Kim, Seung Il;
Chu, In-Sun;
Leem, Sun-Hee

Publication type:

Article

Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. v, doi. 10.1002/humu.21318

By:

Sijmons, Rolf H.;
Swertz, Morris A.

Publication type:

Article

Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1594, doi. 10.1002/humu.21299

By:

Sommer, Wolfgang H.;
Lidström, Jessica;
Sun, Hui;
Passer, Derek;
Eskay, Robert;
Parker, Stephen C.J.;
Witt, Stephanie H.;
Zimmermann, Ulrich S.;
Nieratschker, Vanessa;
Rietschel, Marcella;
Margulies, Elliott H.;
Palkovits, Miklós;
Laucht, Manfred;
Heilig, Markus

Publication type:

Article

ARX spectrum disorders: making inroads into the molecular pathology.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 889, doi. 10.1002/humu.21288

By:

Shoubridge, Cheryl;
Fullston, Tod;
Gécz, Jozef

Publication type:

Article

KvDB; mining and mapping sequence variants in voltage-gated potassium channels.

Published in:

2010

By:

Stead, Lucy F.;
Wood, Ian C.;
Westhead, David R.

Publication type:

Other

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1587, doi. 10.1002/humu.21298

By:

Ott, Claus E.;
Leschik, Gundula;
Trotier, Fabienne;
Brueton, Louise;
Brunner, Han G.;
Brussel, Wim;
Guillen-Navarro, Encarna;
Haase, Claudia;
Kohlhase, Juergen;
Kotzot, Dieter;
Lane, Andrew;
Lee-Kirsch, Min Ae;
Morlot, Susanne;
Simon, Marleen E.H.;
Steichen-Gersdorf, Elisabeth;
Tegay, David H.;
Peters, Hartmut;
Mundlos, Stefan;
Klopocki, Eva

Publication type:

Article

A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1609, doi. 10.1002/humu.21302

By:

Neu, Axel;
Eiselt, Michele;
Paul, Matthias;
Sauter, Kathrin;
Stallmeyer, Birgit;
Isbrandt, Dirk;
Schulze-Bahr, Eric

Publication type:

Article

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 930, doi. 10.1002/humu.21294

By:

Morán, María;
Marín-Buera, Lorena;
Gil-Borlado, M. Carmen;
Rivera, Henry;
Blázquez, Alberto;
Seneca, Sara;
Vázquez-López, María;
Arenas, Joaquín;
Martín, Miguel A.;
Ugalde, Cristina

Publication type:

Article

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 975, doi. 10.1002/humu.21301

By:

Kosinski, Jan;
Hinrichsen, Inga;
Bujnicki, Janusz M.;
Friedhoff, Peter;
Plotz, Guido

Publication type:

Article

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1622, doi. 10.1002/humu.21305

By:

Aragon-Martin, Jose Antonio;
Ahnood, Dana;
Charteris, David G;
Saggar, Anand;
Nischal, Ken K;
Comeglio, Paolo;
Chandra, Aman;
Child, Anne H;
Arno, Gavin

Publication type:

Article

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. 918, doi. 10.1002/humu.21293

By:

Lalonde, Emilie;
Albrecht, Steffen;
Ha, Kevin C.H.;
Jacob, Karine;
Bolduc, Nathalie;
Polychronakos, Constantin;
Dechelotte, Pierre;
Majewski, Jacek;
Jabado, Nada

Publication type:

Article

The Alport syndrome COL4A5 variant database.

Published in:

2010

By:

Crockett, David K.;
Pont-Kingdon, Genevieve;
Gedge, Frederick;
Sumner, Kelli;
Seamons, Ryan;
Lyon, Elaine

Publication type:

Other