Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 6

Results: 16

Gene Symbol: VHL Disease: Von-Hippel-Lindau syndrome.

Published in:: Human Genetics, 2000, v. 106, n. 6, p. 671
Publication type:: Article

Gene Symbol: VHL Disease: Pancreatic Cancer.

Published in:: Human Genetics, 2000, v. 106, n. 6, p. 671
Publication type:: Article

Gene structures of the human non-neuronal monoamine transporters EMT and OCT2.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 627, doi. 10.1007/s004390000309

By:

Gründemann, Dirk;
Schömig, Edgar

Publication type:

Article

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 605, doi. 10.1007/s004390000298

By:

De Vos, Anick;
Sermon, Karen;
Van de Velde, Hilde;
Joris, Hubert;
Vandervorst, Mark;
Lissens, Willy;
De Paepe, Anne;
Liebaers, Inge;
Van Steirteghem, André

Publication type:

Article

Acquired pericentric inversion of chromosome 9 in essential thrombocythemia.

Published in:: Human Genetics, 2000, v. 106, n. 6, p. 669, doi. 10.1007/s004390050041
Publication type:: Article

Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 620, doi. 10.1007/s004390000310

By:

Mahmood, Radma;
Brierley, Catherine H.;
Faed, Michael J. W.;
Mills, John A.;
Delhanty, Joy D. A.

Publication type:

Article

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 577, doi. 10.1007/s004390000285

By:

Urbán, Zsolt;
Michels, Virginia V.;
Thibodeau, Stephen N.;
Davis, Elaine C.;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Eyskens, Benedicte;
Gewillig, Marc;
Devriendt, Koen;
Boyd, Charles D.

Publication type:

Article

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 636, doi. 10.1007/s004390000311

By:

Evans, Julie Claire;
Frayling, Timothy Mark;
Ellard, Sian;
Gutowski, Nick J.

Publication type:

Article

Molecular genetic analysis of severe protein C deficiency.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 646, doi. 10.1007/s004390000315

By:

Millar, David S.;
Johansen, Bent;
Berntorp, Erik;
Minford, Adrian;
Bolton-Maggs, Paula;
Wensley, Richard;
Kakkar, Vijay;
Schulman, Sam;
Torres, Argimiro;
Bosch, Norma;
Cooper, David N.

Publication type:

Article

Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 639, doi. 10.1007/s004390000318

By:

Tazi-Ahnini, Rachid;
di Giovine, Francesco S.;
McDonagh, Andrew J.G.;
Messenger, Andrew G.;
Amadou, Claire;
Cox, Angela;
Duff, Gordon W.;
Cork, Michael J.

Publication type:

Article

Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 614, doi. 10.1007/s004390000308

By:

Postma, Alex V.;
Bezzina, Connie R.;
de Vries, Jeltje F.;
Wilde, Arthur A. M.;
Moorman, Antoon F. M.;
Mannens, Marcel M. A. M.

Publication type:

Article

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 597, doi. 10.1007/s004390000320

By:

Basu, Priyadarshi;
Chattopadhyay, Biswanath;
Gangopadhaya, Prasanta K.;
Mukherjee, Subhas C.;
Sinha, Krishna K.;
Das, Shyamal K.;
Roychoudhury, Susanta;
Majumder, Partha P.;
Bhattacharyya, Nitai P.

Publication type:

Article

Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 594, doi. 10.1007/s004390000306

By:

Hulme, Dennis J.;
Blair, Ian P.;
Dawkins, Jennifer L.;
Nicholson, Garth A.

Publication type:

Article

The ALDH2 genotype, alcohol intake, and liver-function biomarkers among Japanese male workers.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 589, doi. 10.1007/s004390000314

By:

Takeshita, Tatsuya;
Xing Yang;
Morimoto, Kanehisa

Publication type:

Article

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 663, doi. 10.1007/s004390000316

By:

Jones, Alistair C.;
Sampson, Julian R.;
Hoogendoorn, Bastian;
Cohen, David;
Cheadle, Jeremy P.

Publication type:

Article

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 654, doi. 10.1007/s004390000307

By:

Rüetschi, Ulla;
Cerone, Roberto;
Pérez-Cerda, Celia;
Schiaffino, Maria Cristina;
Standing, Sue;
Ugarte, Magdalena;
Holme, Elisabeth

Publication type:

Article