Volume 9; Issue 12

European Journal of Human Genetics

Volume 9; Issue 12

1

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

Giardino, Daniela, Finelli, Palma, Gottardi, Giulietta, Clerici, Donata, Mosca, Fabio, Briscioli, Vincenza, Larizza, Lidia

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 336 KB

english, 2001

2

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls

Cuadrado, Emilio, de Juan, MaDolores, Reta, Ana, Castiella, Agustin, Pozueta, Jasone, Prada, Alvaro

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 87 KB

english, 2001

3

Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis

Lucas, Rebecca E, Vlangos, Christopher N, Das, Parimal, Patel, Pragna I, Elsea, Sarah H

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 318 KB

english, 2001

4

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

Sun, Chen, Tranebjærg, Lisbeth, Torbergsen, Torberg, Holmgren, Gösta, Van Ghelue, Marijke

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 153 KB

english, 2001

5

Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome

Sharp, Andrew, Moore, Gudrun, Eggermann, Thomas

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

6

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

Fritz, Barbara, Aslan, Mücevher, Kalscheuer, Vera, Ramsing, Mette, Saar, Kathrin, Fuchs, Brigitte, Rehder, Helga

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

7

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

Olsson, Charlotta, Johnsen, Elsy, Nilsson, Mats, Wilander, Erik, Syvänen, Ann-Christine, Lagerström-Fermér, Maria

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 106 KB

english, 2001

8

NEDD4L on human chromosome 18q21 has multiple forms of transcripts and is a homologue of the mouse Nedd4-2 gene

Chen, Haiming, Ross, Christopher A, Wang, Nulang, Huo, Yuqing, MacKinnon, Dean F, Potash, James B, Simpson, Sylvia G, McMahon, Francis J, DePaulo, Jr, J Raymond, McInnis, Melvin G

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 385 KB

english, 2001

9

Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia

Fujioka, Hiroki, Okano, Yoshiyuki, Inada, Hiroshi, Asada, Minoru, Kawamura, Tomoyuki, Hase, Yutaka, Yamano, Tsunekazu

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 291 KB

english, 2001

10

Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach

Miedzybrodzka, Zosia, Hamilton, Neil M, Gregory, Helen, Milner, Benedict, Frade, Iciar, Sinclair, Tracy, Mollison, Jill, Haites, Neva

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 189 KB

english, 2001

11

Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11

Naluai, Åsa Torinsson, Nilsson, Staffan, Gudjónsdóttir, Audur H, Louka, Andrew S, Ascher, Henry, Ek, Johan, Hallberg, Birgitta, Samuelsson, Lena, Kristiansson, Bengt, Martinsson, Tommy

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 144 KB

english, 2001

12

Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27

Haagerup, Annette, Bjerke, Torbjørn, Schøitz, Peter Oluf, Binderup, Helle G, Dahl, Ronald, Kruse, Torben A

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 150 KB

english, 2001

13

Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease

Erginel-Unaltuna, Nihan, Peoc'h, Katell, Komurcu, Evrim, Acuner, Tufan Tevfik, Issever, Halim, Laplanche, Jean-Louis

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

14

Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE

Peters, Dorien J M, Ariyurek, Yavuz, van Dijk, Marjan, Breuning, Martijn H

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 98 KB

english, 2001

15

Author index to volume 9

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 54 KB

english, 2001

16

Keyword index to volume 9

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 43 KB

english, 2001

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