Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 4

Results: 15

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Published in:

2007

By:

Urreizti, Roser;
Asteggiano, Carla;
Bermudez, Marta;
Córdoba, Alfonso;
Szlago, Marina;
Grosso, Carola;
Kremer, Raquel;
Vilarinho, Laura;
D’Almeida, Vania;
Martínez-Pardo, Mercedes;
Peña-Quintana, Luís;
Dalmau, Jaime;
Bernal, Jaime;
Briceño, Ignacio;
Couce, María;
Rodés, Marga;
Vilaseca, Maria;
Balcells, Susana;
Grinberg, Daniel

Publication type:

Correction Notice

Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean population.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 355, doi. 10.1007/s10038-007-0123-8

By:

Soo-Cheon Chae;
Chun-Shi Li;
Ki Kim;
Ji Yang;
Qinggao Zhang;
Yong-Chul Lee;
Yun-Sik Yang;
Hun-Taeg Chung

Publication type:

Article

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 349, doi. 10.1007/s10038-007-0122-9

By:

Kurokawa, Keiji;
Yorifuji, Tohru;
Kawai, Masahiko;
Momoi, Toru;
Nagasaka, Hironori;
Takayanagi, Masaki;
Kobayashi, Keiko;
Yoshino, Makoto;
Kosho, Tomoki;
Adachi, Masanori;
Otsuka, Harumi;
Yamamoto, Shigenori;
Murata, Toshiaki;
Suenaga, Akihito;
Ishii, Tsutomu;
Terada, Kihei;
Shimura, Naoto;
Kiwaki, Kohji;
Shintaku, Haruo;
Yamakawa, Masaru

Publication type:

Article

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 342, doi. 10.1007/s10038-007-0121-x

By:

Zahorakova, Daniela;
Rosipal, Robert;
Hadac, Jan;
Zumrova, Alena;
Bzduch, Vladimir;
Misovicova, Nadezda;
Baxova, Alice;
Zeman, Jiri;
Martasek, Pavel

Publication type:

Article

Population history of the Dniester–Carpathians: evidence from Alu markers.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 308, doi. 10.1007/s10038-007-0113-x

By:

Varzari, Alexander;
Stephan, Wolfgang;
Stepanov, Vadim;
Raicu, Florina;
Cojocaru, Radu;
Roschin, Yuri;
Glavce, Cristiana;
Dergachev, Valentin;
Spiridonova, Maria;
Schmidt, Horst D.;
Weiss, Elisabeth

Publication type:

Article

Glucocorticoid-induced granzyme A expression can be used as a marker of glucocorticoid sensitivity for acute lymphoblastic leukemia therapy.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 328, doi. 10.1007/s10038-007-0119-4

By:

Myoumoto, Akira;
Nakatani, Kaoru;
Koshimizu, Taka-aki;
Matsubara, Hiroshi;
Adachi, Souichi;
Tsujimoto, Gozoh

Publication type:

Article

The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 362, doi. 10.1007/s10038-007-0124-7

By:

Yoshida, Tomokatsu;
Tomozawa, Yasuko;
Arisato, Takayo;
Okamoto, Yuji;
Hirano, Hirofumi;
Nakagawa, Masanori

Publication type:

Article

Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 ( LELP1) gene with total serum IgE levels.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 378, doi. 10.1007/s10038-007-0118-5

By:

Sharma, Mamta;
Mehla, Kamiya;
Batra, Jyotsna;
Ghosh, Balaram

Publication type:

Article

Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 297, doi. 10.1007/s10038-007-0109-6

By:

Maina, Esther N.;
Webb, Tessa;
Soni, Sarita;
Whittington, Joyce;
Boer, Harm;
Clarke, David;
Holland, Anthony

Publication type:

Article

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–genotype correlation.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 370, doi. 10.1007/s10038-007-0108-7

By:

Kondoh, T.;
Okamoto, N.;
Norimatsu, N.;
Uetani, M.;
Nishimura, G.;
Moriuchi, H.

Publication type:

Article

Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 374, doi. 10.1007/s10038-007-0117-6

By:

Chung-Ling Liang;
Kuo-Sheng Hung;
Yueh-Ying Tsai;
Wansu Chang;
Hsin-Shih Wang;
Suh-Hang Juo

Publication type:

Article

Polymorphic Alu insertions and the genetic structure of Iberian Basques.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 317, doi. 10.1007/s10038-007-0114-9

By:

García-Obregón, S.;
Alfonso-Sánchez, M.;
Pérez-Miranda, A.;
Pancorbo, M.;
Peña, J.

Publication type:

Article

Expression and phylogenetic analyses of human endogenous retrovirus HC2 belonging to the HERV-T family in human tissues and cancer cells.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 285, doi. 10.1007/s10038-007-0115-8

By:

Joo-Mi Yi;
Heui-Soo Kim

Publication type:

Article

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 334, doi. 10.1007/s10038-007-0116-7

By:

Kikuchi, Taeko;
Nomura, Masayo;
Tomita, Hiroaki;
Harada, Naoki;
Kanai, Kazuaki;
Konishi, Tohru;
Yasuda, Ayako;
Matsuura, Masato;
Kato, Nobumasa;
Yoshiura, Koh-ichiro;
Niikawa, Norio

Publication type:

Article

Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H).

Published in:

Journal of Human Genetics, 2007, v. 52, n. 4, p. 384, doi. 10.1007/s10038-007-0120-y

By:

Shastry, Barkur S.

Publication type:

Article