Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 2

Results: 25

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200244
By:
- Rovio, Anja;
- Tiranti, Valeria;
- Bednarz, Amy L;
- Suomalainen, Anu;
- Spelbrink, Johannes N;
- Lecrenier, Nicolas;
- Melberg, Atle;
- Zeviani, Massimo;
- Poulton, Joanna;
- Foury, Françoise;
- Jacobs, Howard T
Publication type:
Article
Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 239, doi. 10.1038/sj.ejhg.5200250
By:
- Girardet, Anne;
- Lien, Sigbjørn;
- Leeflang, Esther P;
- Beaufrère, Laurent;
- Tuffery, Sylvie;
- Munier, Francis;
- Arnheim, Norman;
- Claustres, Mireille;
- Pellestor, Franck
Publication type:
Article
Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr–15.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 110, doi. 10.1038/sj.ejhg.5200251
By:
- Xu, Chun;
- Dai, Yamei;
- Fredrikson, Sten;
- Hillert, Jan
Publication type:
Article
A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 217, doi. 10.1038/sj.ejhg.5200252
By:
- Losekoot, Monique;
- Bakker, Bert;
- Laccone, Franco;
- Stenhouse, Su;
- Elles, Rob
Publication type:
Article
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 179, doi. 10.1038/sj.ejhg.5200253
By:
- Kekou, Kiriaki;
- Mavrou, Ariadni;
- Florentin, Lina;
- Youroukos, Sotiris;
- Zafiriou, Dimitrios I;
- Skouteli, Helen N;
- Metaxotou, Catherine
Publication type:
Article
Testing of human homologues of murine obesity genes as candidate regions in Finnish obese sib pairs.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 117, doi. 10.1038/sj.ejhg.5200256
By:
- Öhman, Miina;
- Oksanen, Laura;
- Kainulainen, Katariina;
- Jänne, Olli A;
- Kaprio, Jaakko;
- Koskenvuo, Markku;
- Mustajoki, Pertti;
- Kontula, Kimmo;
- Peltonen, Leena
Publication type:
Article
Experimentally observed germline mutations at human micro- and minisatellite loci.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 263, doi. 10.1038/sj.ejhg.5200257
By:
- Sajantila, Antti;
- Lukka, Matti;
- Syvänen, Ann-Christine
Publication type:
Article
Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 131, doi. 10.1038/sj.ejhg.5200258
By:
- Moncla, Anne;
- Malzac, Perrine;
- Voelckel, Marie-Antoinette;
- Auquier, Pascal;
- Girardot, Lydie;
- Mattei, Marie-Genevieve;
- Philip, Nicole;
- Mattei, Jean-François;
- Lalande, Marc;
- Livet, Marie-Odile
Publication type:
Article
Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 188, doi. 10.1038/sj.ejhg.5200262
By:
- Levo, Antti;
- Jääskeläinen, Jarmo;
- Sistonen, Pertti;
- Sirén, Marja-Kaisa;
- Voutilainen, Raimo;
- Partanen, Jukka
Publication type:
Article
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 251, doi. 10.1038/sj.ejhg.5200263
By:
- Vainzof, M;
- Moreira, E S;
- Ferraz, G;
- Passos-Bueno, M R;
- Marie, S K;
- Zatz, M
Publication type:
Article
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 147, doi. 10.1038/sj.ejhg.5200264
By:
- Maciel, Patrícia;
- Gaspar, Claudia;
- Guimarães, Laura;
- Goto, Jun;
- Lopes-Cendes, Iscia;
- Hayes, Sean;
- Arvidsson, Karin;
- Dias, Aureliano;
- Sequeiros, Jorge;
- Sousa, Alda;
- Rouleau, Guy A
Publication type:
Article
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200266
By:
- Regis, Stefano;
- Filocamo, Mirella;
- Corsolini, Fabio;
- Caroli, Francesco;
- Keulemans, Joke LM;
- Diggelen, Otto P van;
- Gatti, Rosanna
Publication type:
Article
Asynchronous replication of alleles in genomes carrying an extra autosome.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 223, doi. 10.1038/sj.ejhg.5200267
By:
- Amiel, Aliza;
- Korenstein, Avital;
- Gaber, Elena;
- Avivi, Lydia
Publication type:
Article
Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 205, doi. 10.1038/sj.ejhg.5200268
By:
- Ala-Mello, Sirpa;
- Koskimies, Olli;
- Rapola, Juhani;
- Kääriäinen, Helena
Publication type:
Article
DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 243, doi. 10.1038/sj.ejhg.5200269
By:
- Moynihan, Leanne;
- Houseman, Mark;
- Newton, Valerie;
- Mueller, Robert;
- Lench, Nicholas
Publication type:
Article
Haplotypes and mutations of the PAH locus in Egyptian families with PKU.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 259, doi. 10.1038/sj.ejhg.5200270
By:
- Effat, L;
- Kuzmin, A;
- Kasem, N;
- Meguid, N Abdel;
- Kotb, S;
- Eisensmith, R C;
- Temtamy, S A;
- Rushdi, S;
- Woo, S;
- El-Awady, M
Publication type:
Article
Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 255, doi. 10.1038/sj.ejhg.5200273
By:
- Alloisio, Nicole;
- Morlé, Laurette;
- Bozon, Muriel;
- Godet, Jacqueline;
- Verhoeven, Kristien;
- Van Camp, Guy;
- Plauchu, Henri;
- Muller, Philippe;
- Collet, Lionel;
- Lina-Granade, Geneviève
Publication type:
Article
Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 231, doi. 10.1038/sj.ejhg.5200274
By:
- Cifuentes, P;
- Navarro, J;
- Blanco, J;
- Vidal, F;
- Míguez, L;
- Egozcue, J;
- Benet, J
Publication type:
Article
No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 247, doi. 10.1038/sj.ejhg.5200278
By:
- Bonnet-Brilhault, Frédérique;
- Laurent, Claudine;
- Campion, Dominique;
- Thibaut, Florence;
- Lafargue, Carole;
- Charbonnier, Françoise;
- Deleuze, Jean-François;
- Ménard, Jean-François;
- Jay, Maurice;
- Petit, Michel;
- Frebourg, Thierry;
- Mallet, Jacques
Publication type:
Article
Characterisation and expression of a large, 13.7 kb FMR2 isoform.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 157, doi. 10.1038/sj.ejhg.5200279
By:
- Gecz, Jozef;
- Mulley, John C
Publication type:
Article
Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 103, doi. 10.1038/sj.ejhg.5200280
By:
- Shugart, Yin Y;
- Goldgar, David E
Publication type:
Article
Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR).
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 197, doi. 10.1038/sj.ejhg.5200283
By:
- Heijmans, Bastiaan T;
- Gussekloo, Jacobijn;
- Kluft, Cornelis;
- Droog, Simone;
- Lagaay, A Margot;
- Knook, Dick L;
- Westendorp, Rudi GJ;
- Slagboom, Eline P
Publication type:
Article
Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 212, doi. 10.1038/sj.ejhg.5200285
By:
- Ryynänen, Markku;
- Heinonen, Seppo;
- Makkonen, Minna;
- Kajanoja, Elisa;
- Mannermaa, Arto;
- Pertti, Kirkinen
Publication type:
Article
Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 169, doi. 10.1038/sj.ejhg.5200290
By:
- Scholz, Michael;
- Kraft, Hans-Georg;
- Lingenhel, Arnulf;
- Delport, Rhena;
- Vorster, Est´ H;
- Bickeböller, Heike;
- Utermann, Gerd
Publication type:
Article
A complex haemoglobinopathy diagnosis in a family with both βo- and αo/+-thalassaemia homozygosity.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 163, doi. 10.1038/sj.ejhg.5200281
By:
- Giordano, P C;
- Harteveld, C L;
- Bok, L A;
- van Delft, P;
- Batelaan, D;
- Beemer, F A;
- Bernini, L F
Publication type:
Article

Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 2

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.

Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.

Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr–15.

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease.

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

Testing of human homologues of murine obesity genes as candidate regions in Finnish obese sib pairs.

Experimentally observed germline mutations at human micro- and minisatellite loci.

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.

Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland.

Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex.

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)<sub>n</sub> tract.

An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

Asynchronous replication of alleles in genomes carrying an extra autosome.

Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.

DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter.

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss.

Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation.

No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia.

Characterisation and expression of a large, 13.7 kb FMR2 isoform.

Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach.

Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR).

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.

Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians.

A complex haemoglobinopathy diagnosis in a family with both β<sup>o</sup>- and α<sup>o/+</sup>-thalassaemia homozygosity.