Volume 8; Issue 7

European Journal of Human Genetics

Volume 8; Issue 7

1

Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations

Belledi, Michele, Poloni, Estella S, Casalotti, Rosa, Conterio, Franco, Mikerezi, Ilia, Tagliavini, James, Excoffier, Laurent

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 102 KB

english, 2000

2

Giant axonal neuropathy locus refinement to a &< 590 kb critical interval

Cavalier, Laurent, BenHamida, Christiane, Amouri, Rim, Belal, Samir, Bomont, Pascale, Lagarde, Nadège, Gressin, Laëtitia, Callen, David, Demir, Ercan, Topaloglu, Haluk

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 183 KB

english, 2000

3

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population

Sistermans, Erik A, de Coo, René FM, van Beerendonk, Hetty M, Poll-The, Bwee Tien, Kleijer, Wim J, van Oost, Bernard A

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 160 KB

english, 2000

4

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)

Helmken, C, Wetter, A, Rudnik-Schöneborn, S, Liehr, T, Zerres, K, Wirth, B

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 384 KB

english, 2000

5

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients

Badenas, Celia, Torra, Roser, Pérez-Oller, Laureano, Mallolas, Judith, Talbot-Wright, Roberto, Torregrosa, Vicenç, Darnell, Alejandro

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 174 KB

english, 2000

6

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12

Yamada, Koki, Tomita, Hiro-aki, Yoshiura, Koh-ichiro, Kondo, Shinji, Wakui, Keiko, Fukushima, Yoshimitsu, Ikegawa, Shiro, Nakamura, Yusuke, Amemiya, Tsugio, Niikawa, Norio

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

7

Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours

Alves, Cíntia, Silva, Filipe, Gusmão, Leonor, Seruca, Raquel, Soares, Paula, Reis, Rui M, Amorim, António

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 137 KB

english, 2000

8

Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening

Moizard, Marie-Pierre, Toutain, Annick, Fournier, Delphine, Berret, Françoise, Raynaud, Martine, Billard, Catherine, Andres, Christian, Moraine, Claude

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 155 KB

english, 2000

9

Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients

Narang, Monica A, Waring, James D, Sabourin, Luc A, Korneluk, Robert G

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

10

Identification of novel USH2A mutations: implications for the structure of USH2A protein

Dreyer, Bo, Tranebjærg, Lisbeth, Rosenberg, Thomas, Weston, Michael D, Kimberling, William J, Nilssen, Øivind

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 623 KB

english, 2000

11

Molecular basis of hereditary pancreatitis

Chen, Jian-Min, Ferec, Claude

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 136 KB

english, 2000

12

Pedigree tests of transmission disequilibrium

Abecasis, Gonçalo R, Cookson, William OC, Cardon, Lon R

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 247 KB

english, 2000

13

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies

van den Bogaard, Ruud, Fijen, Cees AP, Schipper, Mariëtte GJ, de Galan, Louis, Kuijper, Ed J, Mannens, Marcel MAM

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 136 KB

english, 2000

14

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

Wieczorek, Dagmar, Krause, Mario, Majewski, Frank, Albrecht, Beate, Horn, Denise, Riess, Olaf, Gillessen-Kaesbach, Gabriele

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 237 KB

english, 2000

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