Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 12

Results: 17

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200545

By:

Brown, Jill;
Horsley, Sharon W;
Jung, Christine;
Saracoglu, Kaan;
Janssen, Bart;
Brough, Michaela;
Daschner, Markus;
Beedgen, Bernd;
Kerkhoffs, Guido;
Eils, Roland;
Harris, Peter C;
Jauch, Anna;
Kearney, Lyndal

Publication type:

Article

Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 923, doi. 10.1038/sj.ejhg.5200555

By:

Maiti, Amit K;
Mattéi, Marie-Geneviève;
Jorissen, Mark;
Volz, Armin;
Zeigler, Andreas;
Bouvagnet, Patrice

Publication type:

Article

Allelic association is increased by correlation of effective family size.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 980, doi. 10.1038/sj.ejhg.5200556

By:

Austerlitz, Frédéric;
Heyer, Evelyne

Publication type:

Article

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 918, doi. 10.1038/sj.ejhg.5200557

By:

Jonasson, Jenni;
Juvonen, Vesa;
Sistonen, Pertti;
Ignatius, Jaakko;
Johansson, Daniel;
Björck, Erik J;
Wahlström, Jan;
Melberg, Atle;
Holmgren, Gösta;
Forsgren, Lars;
Holmberg, Monica

Publication type:

Article

mtDNA hypervariable region II (HVII) sequences in human evolution studies.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 964, doi. 10.1038/sj.ejhg.5200563

By:

Salas, Antonio;
Lareu, Victoria;
Calafell, Francesc;
Bertranpetit, Jaume;
Carracedo, Ángel

Publication type:

Article

Elastin: mutational spectrum in supravalvular aortic stenosis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 955, doi. 10.1038/sj.ejhg.5200564

By:

Metcalfe, Kay;
Rucka, Agnes K;
Smoot, Leslie;
Hofstadler, Guenter;
Tuzler, Gerald;
McKeown, Pascal;
Siu, Victoria;
Rauch, Anita;
Dean, John;
Dennis, Nick;
Ellis, Ian;
Reardon, William;
Cytrynbaum, Cheryl;
Osborne, Lucy;
Yates, John R;
Read, Andrew P;
Donnai, Dian;
Tassabehji, Mayada

Publication type:

Article

Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 939, doi. 10.1038/sj.ejhg.5200565

By:

Luijten, Mirjam;
Redeker, Sandra;
van Noesel, Max M;
Troost, Dirk;
Westerveld, Andries;
Hulsebos, Theo JM

Publication type:

Article

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 933, doi. 10.1038/sj.ejhg.5200566

By:

Olsson, Charlotta;
Waldenström, Erik;
Westermark, Kerstin;
Landegren, Ulf;
Syvänen, Ann-Christine

Publication type:

Article

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 991, doi. 10.1038/sj.ejhg.5200567

By:

Pulleyn, L J;
Jackson, A P;
Roberts, E;
Carridice, A;
Muxworthy, C;
Houseman, M;
Al-Gazali, L I;
Lench, N J;
Markham, A F;
Mueller, R F

Publication type:

Article

Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3′A, CCR2-64I, and CCR5-Δ32) in global populations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 975, doi. 10.1038/sj.ejhg.5200568

By:

Su, Bing;
Sun, Guangyan;
Lu, Daru;
Xiao, Junhua;
Hu, Fang;
Chakraborty, Ranajit;
Deka, Ranjan;
Jin, Li

Publication type:

Article

Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 994, doi. 10.1038/sj.ejhg.5200570

By:

del Giudice, Emanuele Miraglia;
Coppola, Giangennaro;
Scuccimarra, Goffredo;
Cirillo, Grazia;
Bellini, Giulia;
Pascotto, Antonio

Publication type:

Article

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 946, doi. 10.1038/sj.ejhg.5200571

By:

Gómez-Garre, Pilar;
Sanz, Yolanda;
de Córdoba, Santiago Rodríguez;
Serratosa, José M

Publication type:

Article

Parental origin and mechanisms of formation of triploidy: a study of 25 cases.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 911, doi. 10.1038/sj.ejhg.5200572

By:

Baumer, Alessandra;
Balmer, Damina;
Binkert, Franz;
Schinzel, Albert

Publication type:

Article

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 986, doi. 10.1038/sj.ejhg.5200586

By:

Bomont, Pascale;
Watanabe, Mitsunory;
Gershoni-Barush, Ruth;
Shizuka, Masami;
Tanaka, Makoto;
Sugano, Jinpei;
Guiraud-Chaumeil, Christophe;
Koenig, Michel

Publication type:

Article

EUROGAPPP PROJECT 1999 - 2000 Public and Professional Policy Committee (PPPC)* Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics.

Published in:: 2000
Publication type:: Erratum

Author Index.

Published in:: European Journal of Human Genetics, 2000, v. 8, n. 12, p. 1001, doi. 10.1038/sj.ejhg.5200588
Publication type:: Article

Keyword index.

Published in:: European Journal of Human Genetics, 2000, v. 8, n. 12, p. 1006, doi. 10.1038/sj.ejhg.5200589
Publication type:: Article