Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 4

Results: 17

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 496, doi. 10.1038/sj.ejhg.5200277

By:

Raas-Rothschild, Annick;
Bargal, Ruth;
DellaPergola, Sergio;
Zeigler, Marcia;
Bach, Gideon

Publication type:

Article

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 409, doi. 10.1038/sj.ejhg.5200299

By:

Santamaria, Rita;
Vitagliano, Luigi;
Tamasi, Sonia;
Izzo, Paola;
Zancan, Lucia;
Zagari, Adriana;
Salvatore, Francesco

Publication type:

Article

Commentary: FISHing for the light at the ends of chromosomes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 515, doi. 10.1038/sj.ejhg.5200306

By:

Verma, Ram S;
Macera, Michael J

Publication type:

Article

A case of discordance between genotype and phenotype in a malignant hyperthermia family.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 415, doi. 10.1038/sj.ejhg.5200314

By:

Fortunato, Giuliana;
Carsana, Antonella;
Tinto, Nadia;
Brancadoro, Virginia;
Canfora, Giovanna;
Salvatore, Francesco

Publication type:

Article

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 505, doi. 10.1038/sj.ejhg.5200315

By:

Stone, Deborah L;
Diggelen, Otto P van;
Klerk, Johannis BC de;
Gaillard, Johannes LJ;
Niermeijer, Martinus F;
Willemsen, Rob;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 447, doi. 10.1038/sj.ejhg.5200316

By:

Lahermo, Päivi;
Savontaus, Marja-Liisa;
Sistonen, Pertti;
Béres, Judit;
de Knijff, Peter;
Aula, Pertti;
Sajantila, Antti

Publication type:

Article

Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 435, doi. 10.1038/sj.ejhg.5200317

By:

Majumder, Partha P;
Roy, Bidyut;
Banerjee, Sanat;
Chakraborty, Madan;
Dey, Badal;
Mukherjee, Namita;
Roy, Monami;
Thakurta, Piyali Guha;
Sil, Samir K

Publication type:

Article

Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 427, doi. 10.1038/sj.ejhg.5200318

By:

Verheyen, Geert R;
Villafuerte, Sandra M;
Del-Favero, Jurgen;
Souery, Daniel;
Mendlewicz, Julien;
Van Broeckhoven, Christine;
Raeymaekers, Peter

Publication type:

Article

Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3′ exons.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 487, doi. 10.1038/sj.ejhg.5200321

By:

Guillemot, F;
Auffray, C;
Devignes, M D

Publication type:

Article

Reconstruction of a historical genealogy by means of STR analysis and Y-haplotyping of ancient DNA.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 469, doi. 10.1038/sj.ejhg.5200322

By:

Gerstenberger, Julia;
Hummel, Susanne;
Schultes, Tobias;
Häck, Bernhard;
Herrmann, Bernd

Publication type:

Article

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 499, doi. 10.1038/sj.ejhg.5200324

By:

Laberge, Sophie;
Labauge, Pierre;
Maréchal, Emmanuelle;
Maciazek, Jacqueline;
Tournier-Lasserve, Elisabeth

Publication type:

Article

Analysis of mtDNA HVRII in several human populations using an immobilised SSO probe hybridisation assay.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 459, doi. 10.1038/sj.ejhg.5200326

By:

Comas, David;
Reynolds, Rebecca;
Sajantila, Antti

Publication type:

Article

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 421, doi. 10.1038/sj.ejhg.5200333

By:

Genuardi, Maurizio;
Tozzi, Carla;
Pomponi, Maria Grazia;
Stagni, Maria Letizia;
Della Monica, Matteo;
Scarano, Gioacchino;
Calvieri, Fabrizio;
Torrisi, Loredana;
Neri, Giovanni

Publication type:

Article

A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 478, doi. 10.1038/sj.ejhg.5200334

By:

Timmer, Tineke;
Terpstra, Peter;
van den Berg, Anke;
Veldhuis, Patrick MJF;
Ter Elst, Arja;
Voutsinas, Gerassimos;
Hulsbeek, Miriam MF;
Draaijers, Tineke G;
Looman, Maaike WG;
Kok, Klaas;
Naylor, Susan L;
Buys, Charles HCM

Publication type:

Article

Testing tumors for microsatellite instability.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 407, doi. 10.1038/sj.ejhg.5200335

By:

de la Chapelle, Albert

Publication type:

Article

Book review.

Published in:

1999

By:

Giles, Rachel H

Publication type:

Book Review

A tale of tags: report on a HUGO/EU SAGE Workshop, 29 January–1 February 1999, Hilversum, The Netherlands.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 4, p. 510, doi. 10.1038/sj.ejhg.5200345

By:

Baas, Frank;
Tabak, Henk F

Publication type:

Article