Works matching IS 03406717 AND DT 2006 AND VI 120 AND IP 2

Results: 17

An angiotensin converting enzyme haplotype predicts survival in patients with end stage renal disease.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 201, doi. 10.1007/s00439-006-0191-4

By:

Wetmore, James;
Johansen, Kirsten;
Sen, Saunak;
Hung, Adriana;
Lovett, David

Publication type:

Article

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 238, doi. 10.1007/s00439-006-0183-4

By:

Jiang, Miao;
Zhao, Xiuli;
Han, Weitian;
Bian, Chaoying;
Li, Xuefu;
Wang, Ge;
Ao, Yang;
Li, Yunqing;
Yi, Dongxu;
Zhe, Yang;
Lo, Wilson;
Zhang, Xue;
Li, Jianxin

Publication type:

Article

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 270, doi. 10.1007/s00439-006-0217-y

By:

Goidts, Violaine;
Cooper, David;
Armengol, Lluis;
Schempp, Werner;
Conroy, Jeffrey;
Estivill, Xavier;
Nowak, Norma;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Detecting disease gene in DNA haplotype sequences by nonparametric dissimilarity test.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 253, doi. 10.1007/s00439-006-0216-z

By:

Yuan, Ao;
Yue, Qingqi;
Apprey, Victor;
Bonney, George

Publication type:

Article

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 211, doi. 10.1007/s00439-006-0197-y

By:

Eichers, Erica;
Abd-El-Barr, Muhammad;
Paylor, Richard;
Lewis, Richard;
Bi, Weimin;
Lin, Xiaodi;
Meehan, Thomas;
Stockton, David;
Wu, Samuel;
Lindsay, Elizabeth;
Justice, Monica;
Beales, Philip;
Katsanis, Nicholas;
Lupski, James

Publication type:

Article

A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 160, doi. 10.1007/s00439-006-0195-0

By:

Shifman, Sagiv;
Levit, Anat;
Chen, Mao-Liang;
Chen, Chia-Hsiang;
Bronstein, Michal;
Weizman, Avraham;
Yakir, Benjamin;
Navon, Ruth;
Darvasi, Ariel

Publication type:

Article

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 179, doi. 10.1007/s00439-006-0215-0

By:

Bartsch, Oliver;
Rasi, Sasan;
Delicado, Alicia;
Dyack, Sarah;
Neumann, Luitgard;
Seemanová, Eva;
Volleth, Marianne;
Haaf, Thomas;
Kalscheuer, Vera

Publication type:

Article

Cyclin D1 splice variant and risk for non-Hodgkin lymphoma.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 297, doi. 10.1007/s00439-006-0212-3

By:

Wang, Sophia;
Cozen, Wendy;
Severson, Richard;
Hartge, Patricia;
Cerhan, James;
Davis, Scott;
Welch, Robert;
Rothman, Nathaniel;
Chanock, Stephen

Publication type:

Article

The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 293, doi. 10.1007/s00439-006-0211-4

By:

Seyrantepe, Volkan;
Tihy, Frédérique;
Pshezhetsky, Alexey

Publication type:

Article

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5

By:

Budny, Bartlomiej;
Chen, Wei;
Omran, Heymut;
Fliegauf, Manfred;
Tzschach, Andreas;
Wisniewska, Marzena;
Jensen, Lars;
Raynaud, Martine;
Shoichet, Sarah;
Badura, Magda;
Lenzner, Steffen;
Latos-Bielenska, Anna;
Ropers, Hans-Hilger

Publication type:

Article

A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 193, doi. 10.1007/s00439-006-0207-0

By:

Holmes, S.;
Wentzell, J.;
Seixas, A.;
Callahan, C.;
Silveira, I.;
Ross, C.;
Margolis, R.

Publication type:

Article

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 262, doi. 10.1007/s00439-006-0205-2

By:

Mackay, D.;
Boonen, S.;
Clayton-Smith, J.;
Goodship, J.;
Hahnemann, J.;
Kant, S.;
Njølstad, P.;
Robin, N.;
Robinson, D.;
Siebert, R.;
Shield, J.;
White, H.;
Temple, I.

Publication type:

Article

Variants in the HEPSIN gene are associated with prostate cancer in men of European origin.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 187, doi. 10.1007/s00439-006-0204-3

By:

Pal, Prodipto;
Xi, Huifeng;
Kaushal, Ritesh;
Sun, Guangyun;
Jin, Carol;
Jin, Li;
Suarez, Brian;
Catalona, William;
Deka, Ranjan

Publication type:

Article

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 151, doi. 10.1007/s00439-006-0202-5

By:

Ferenci, Peter

Publication type:

Article

Evidence for involvement of TRE-2 ( USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7

By:

Ou, Zhishuo;
Jarmuż, Małgorzata;
Sparagana, Steven;
Michaud, Jacques;
Décarie, Jean-Claude;
Yatsenko, Svetlana;
Nowakowska, Beata;
Furman, Patti;
Shaw, Chad;
Shaffer, Lisa;
Lupski, James;
Chinault, A.;
Cheung, Sau;
Stankiewicz, Paweł

Publication type:

Article

Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 285, doi. 10.1007/s00439-006-0221-2

By:

Metzger, Silke;
Bauer, Peter;
Tomiuk, Jürgen;
Laccone, Franco;
DiDonato, Stefano;
Gellera, Cinzia;
Mariotti, Caterina;
Lange, Herwig;
Weirich-Schwaiger, Helga;
Wenning, Gregor;
Seppi, Klaus;
Melegh, Bela;
Havasi, Viktoria;
Balikó, Laszlo;
Wieczorek, Stefan;
Zaremba, Jacek;
Hoffman-Zacharska, Dorota;
Sulek, Anna;
Basak, A.;
Soydan, Esra

Publication type:

Article

Association analysis of SOD2 variants with methamphetamine psychosis in Japanese and Taiwanese populations.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 243, doi. 10.1007/s00439-006-0189-y

By:

Nakamura, Kazuhiko;
Chen, Chih-Ken;
Sekine, Yoshimoto;
Iwata, Yasuhide;
Anitha, A.;
Loh, El-Wui;
Takei, Nori;
Suzuki, Atsuko;
Kawai, Masayoshi;
Takebayashi, Kiyokazu;
Suzuki, Katsuaki;
Minabe, Yoshio;
Tsuchiya, Kenji;
Yamada, Kazuo;
Iyo, Masaomi;
Ozaki, Norio;
Inada, Toshiya;
Iwata, Nakao;
Harano, Mutsuo;
Komiyama, Tokutaro

Publication type:

Article