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

Results: 25

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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.

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

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.

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

Asynchronous replication of alleles in genomes carrying an extra autosome.

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

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

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

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

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.