Volume 16; Issue 2

European Journal of Human Genetics

Volume 16; Issue 2

1

Exploration of gene–gene interaction effects using entropy-based methods

Dong, Changzheng, Chu, Xun, Wang, Ying, Wang, Yi, Jin, Li, Shi, Tieliu, Huang, Wei, Li, Yixue

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

2

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

Ugur, Sibel Aylin, Tolun, Aslıhan

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 174 KB

english, 2007

3

Bases, Bits and Disease: Bases, bits and disease: a mathematical theory of human genetics

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

4

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases

O'Dushlaine, Colm T, Dolan, Ciara, Weale, Michael E, Stanton, Alice, Croke, David T, Kalviainen, Reetta, Eriksson, Kai, Kantanen, Anne-Mari, Gibson, Rachel A, Hosford, David

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 6.13 MB

english, 2007

5

All I wanted to know about congenital developmental defects

Schinzel, Albert

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 40 KB

english, 2008

6

Patient mutations alter ATRX targeting to PML nuclear bodies

Bérubé, Nathalie G, Healy, Jasmine, Medina, Chantal F, Wu, Shaobo, Hodgson, Todd, Jagla, Magdalena, Picketts, David J

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 304 KB

english, 2007

7

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

Migeon, Barbara R, Pappas, Kara, Stetten, Gail, Trunca, Carolyn, Jacobs, Patricia A

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 252 KB

english, 2007

8

Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease

Sillén, Anna, Andrade, Jorge, Lilius, Lena, Forsell, Charlotte, Axelman, Karin, Odeberg, Jacob, Winblad, Bengt, Graff, Caroline

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 123 KB

english, 2007

9

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy

Tabolacci, Elisabetta, Pomponi, Maria Grazia, Pietrobono, Roberta, Chiurazzi, Pietro, Neri, Giovanni

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 169 KB

english, 2007

10

A novel sampling design to explore gene-longevity associations: the ECHA study

De Rango, Francesco, Dato, Serena, Bellizzi, Dina, Rose, Giuseppina, Marzi, Erika, Cavallone, Luca, Franceschi, Claudio, Skytthe, Axel, Jeune, Bernard, Cournil, Amandine

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 172 KB

english, 2007

11

Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection

Ribas, Gloria, Milne, Roger L, Gonzalez-Neira, Anna, Benítez, Javier

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 145 KB

english, 2007

12

Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17

Gao, Rui, Matsuura, Tohru, Coolbaugh, Mary, Zühlke, Christine, Nakamura, Koichiro, Rasmussen, Astrid, Siciliano, Michael J, Ashizawa, Tetsuo, Lin, Xi

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 232 KB

english, 2007

13

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Masotti, Cibele, Oliveira, Karina G, Poerner, Fabiana, Splendore, Alessandra, Souza, Josiane, Freitas, Renato da Silva, Zechi-Ceide, Roseli, Guion-Almeida, Maria Leine, Passos-Bueno, Maria Rita

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 243 KB

english, 2007

14

Is the prevalence of Klinefelter syndrome increasing?

Morris, Joan K, Alberman, Eva, Scott, Claire, Jacobs, Patricia

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 142 KB

english, 2007

15

Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred

Malik, Sajid, Schott, Jörg, Schiller, Julia, Junge, Anna, Baum, Erika, Koch, Manuela C

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 220 KB

english, 2007

16

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor

Becker, Kristina, Breitinger, Hans-Georg, Humeny, Andreas, Meinck, Hans-Michael, Dietz, Bernd, Aksu, Fuat, Becker, Cord-Michael

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 320 KB

english, 2007

17

Carrier screening: look before you leap: Carrier screening for type 1 Gaucher disease: difficult questions

Borry, Pascal, Clarke, Angus, Dierickx, Kris

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

18

ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are

Valdmanis, Paul N, Kabashi, Edor, Dion, Patrick A, Rouleau, Guy A

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 128 KB

english, 2007

19

Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia

Magalon, Hélène, Patin, Etienne, Austerlitz, Frédéric, Hegay, Tatyana, Aldashev, Almaz, Quintana-Murci, Lluís, Heyer, Evelyne

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 200 KB

english, 2007

20

Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease

Blom, Elin S, Viswanathan, Jayashree, Kilander, Lena, Helisalmi, Seppo, Soininen, Hilkka, Lannfelt, Lars, Ingelsson, Martin, Glaser, Anna, Hiltunen, Mikko

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 143 KB

english, 2007

21

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Moheb, Lia Abbasi, Tzschach, Andreas, Garshasbi, Masoud, Kahrizi, Kimia, Darvish, Hossein, Heshmati, Yaser, Kordi, Alireza, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 108 KB

english, 2007

22

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic

Wieland, Ilse, Makarov, Roman, Reardon, William, Tinschert, Sigrid, Goldenberg, Alice, Thierry, Patrick, Wieacker, Peter

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 417 KB

english, 2007

23

Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance

Homsma, Sietske J M, Huijgen, Roeland, Middeldorp, Saskia, Sijbrands, Eric J G, Kastelein, John J P

Journal:

European Journal of Human Genetics

Year:

2008

File:

PDF, 29 KB

2008

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