Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 5

Results: 16

Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a “protector” haplotype.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 518, doi. 10.1038/sj.ejhg.5200204

By:

Peixoto, Ana;
Santos, MR dos;
Seruca, Raquel;
Amorim, António;
Castedo, Sérgio

Publication type:

Article

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 527, doi. 10.1038/sj.ejhg.5200205

By:

Marlhens, Françoise;
Griffoin, Jean-Michel;
Bareil, Corinne;
Arnaud, Bernard;
Claustres, Mireille;
Hamel, Christian P

Publication type:

Article

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 459, doi. 10.1038/sj.ejhg.5200207

By:

Brandau, Oliver;
Nyakatura, Gerald;
Jedele, Kerry B;
Platzer, Matthias;
Achatz, Helene;
Ross, Mark;
Murken, Jan;
Rosenthal, Andre;
Meindl, Alfons

Publication type:

Article

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 445, doi. 10.1038/sj.ejhg.5200208

By:

Bradshaw, Nicola;
Brewer, Carole;
FitzPatrick, David;
Murray, George;
Rodgers, Frances;
Porteous, Mary;
Campbell, Harry

Publication type:

Article

Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 430, doi. 10.1038/sj.ejhg.5200209

By:

Armstrong, Susan J;
Hultén, Maj A

Publication type:

Article

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 467, doi. 10.1038/sj.ejhg.5200210

By:

Taylor, Joanne E;
Thomas, Neil H;
Lewis, Cathryn M;
Abbs, Stephen J;
Rodrigues, Nanda R;
Davies, Kay E;
Mathew, Christopher G

Publication type:

Article

Generation of a transcription map distal to HLA-F.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 475, doi. 10.1038/sj.ejhg.5200211

By:

Goldwurm, Stefano;
Van der Griend, Benjamin FH;
Banyer, Joanne L;
Cullen, Lara M;
Zournazi, Anna;
Menzies, Moira L;
Busfield, Frances;
Little, Peter FR;
Jazwinska, Elizabeth C

Publication type:

Article

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 432, doi. 10.1038/sj.ejhg.5200212

By:

Karadima, Georgia;
Bugge, Merete;
Nicolaidis, Peter;
Vassilopoulos, Dimitris;
Avramopoulos, Dimitris;
Grigoriadou, Maria;
Albrecht, Beate;
Passarge, Eberhard;
Annerén, Göran;
Blennow, Elisabeth;
Clausen, Niels;
Galla-Voumvouraki, Angeliki;
Tsezou, Aspasia;
Kitsiou-Tzeli, Sofia;
Hahnemann, Johanne M;
Hertz, Jens M;
Houge, Gunnar;
Kuklík, Miloslav;
Macek, Milan

Publication type:

Article

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 492, doi. 10.1038/sj.ejhg.5200213

By:

Bunge, Susanna;
Rathmann, Michaela;
Steglich, Cordula;
Bondeson, Marie-Louise;
Tylki-Szymanska, Anna;
Popowska, Ewa;
Gal, Andreas

Publication type:

Article

A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 523, doi. 10.1038/sj.ejhg.5200216

By:

Wallace, Daniel F;
Partridge, Jason;
Robertson, Alexis;
Simpson, Victoria MA;
Worwood, Mark;
Bomford, Adrian B;
Volz, Armin;
Ziegler, Andreas;
Dooley, James S;
Walker, Ann P

Publication type:

Article

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 439, doi. 10.1038/sj.ejhg.5200217

By:

Jenderny, Jutta;
Poetsch, Micaela;
Hoeltzenbein, Maria;
Friedrich, Ursula;
Jauch, Anna

Publication type:

Article

Parallel molecular genetic analysis.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 417, doi. 10.1038/sj.ejhg.5200218

By:

McKenzie, Steven E;
Mansfield, Elaine;
Rappaport, Eric;
Surrey, Saul;
Fortina, Paolo

Publication type:

Article

Haplotype and mutation analysis in Greek patients with Wilson disease.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 487, doi. 10.1038/sj.ejhg.5200219

By:

Loudianos, Georgios;
Dessì, Valeria;
Lovicu, Mario;
Angius, Andrea;
Kanavakis, Emmanuel;
Tzetis, Maria;
Kattamis, Christos;
Manolaki, Nina;
Vassiliki, Getsi;
Karpathios, Themistoklis;
Cao, Antonio;
Pirastu, Mario

Publication type:

Article

Localisation of a Fanconi anaemia gene to chromosome 9p.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 501, doi. 10.1038/sj.ejhg.5200241

By:

Saar, Kathrin;
Schindler, Detlev;
Wegner, Rolf-Dieter;
Reis, André;
Wienker, Thomas F;
Hoehn, Holger;
Joenje, Hans;
Sperling, Karl;
Digweed, Martin

Publication type:

Article

A new candidate region for the positional cloning of the XLP gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 509, doi. 10.1038/sj.ejhg.5200249

By:

Bolino, Alessandra;
Yin, Luo;
Seri, Marco;
Cusano, Roberto;
Cinti, Roberta;
Coffey, Alison;
Brooksbank, Robert;
Howell, Gareth;
Bentley, David;
Davis, Jack R;
Lanyi, Arpad;
Huang, Doli;
Stark, Markus;
Creaven, Martina;
Bjørkhaug, Lise;
Heitzmann, Fabrice;
Lamartine, Jérôme;
Gaudi, Simona;
Sylla, Bakary S

Publication type:

Article

Errata.

Published in:: 1998
Publication type:: Erratum