Volume 46; Issue 7

Journal of Medical Genetics

Volume 46; Issue 7

1

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

Tan, T Y, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, E P, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, J B, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 620 KB

english, 2009

2

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease

Lesage, S, Condroyer, C, Lannuzel, A, Lohmann, E, Troiano, A, Tison, F, Damier, P, Thobois, S, Ouvrard-Hernandez, A-M, Rivaud-Pechoux, S, Brefel-Courbon, C, Destee, A, Tranchant, C, Romana, M, Leclere

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 388 KB

english, 2009

3

The effect of the MHC locus on autoantibodies in type 1 diabetes

Qu, H-Q, Polychronakos, C

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 212 KB

english, 2009

4

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

Muzykewicz, D A, Sharma, A, Muse, V, Numis, A L, Rajagopal, J, Thiele, E A

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 177 KB

english, 2009

5

New surfactant protein C gene mutations associated with diffuse lung disease

Guillot, L, Epaud, R, Thouvenin, G, Jonard, L, Mohsni, A, Couderc, R, Counil, F, de Blic, J, Taam, R A, Le Bourgeois, M, Reix, P, Flamein, F, Clement, A, Feldmann, D

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 369 KB

english, 2009

6

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Pasmant, E, Sabbagh, A, Hanna, N, Masliah-Planchon, J, Jolly, E, Goussard, P, Ballerini, P, Cartault, F, Barbarot, S, Landman-Parker, J, Soufir, N, Parfait, B, Vidaud, M, Wolkenstein, P, Vidaud, D, Fr

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

7

Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study

Li, X, Monda, K L, Goring, H H H, Haack, K, Cole, S A, Diego, V P, Almasy, L, Laston, S, Howard, B V, Shara, N M, Lee, E T, Best, L G, Fabsitz, R R, MacCluer, J W, North, K. E

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.20 MB

english, 2009

8

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

Spurlock, G, Bennett, E, Chuzhanova, N, Thomas, N, Jim, H-P., Side, L, Davies, S, Haan, E, Kerr, B, Huson, S M, Upadhyaya, M

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 727 KB

english, 2009

9

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

Laissue, P, Lakhal, B, Benayoun, B A, Dipietromaria, A, Braham, R, Elghezal, H, Philibert, P, Saad, A, Sultan, C, Fellous, M, Veitia, R A

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

10

The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome

Dragon-Durey, M-A, Blanc, C, Marliot, F, Loirat, C, Blouin, J, Sautes-Fridman, C, Fridman, W H, Fremeaux-Bacchi, V

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 173 KB

english, 2009

11

Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

Futter, M, Diekmann, H, Schoenmakers, E, Sadiq, O, Chatterjee, K, Rubinsztein, D C

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 643 KB

english, 2009

12

New challenges for informed consent through whole genome array testing

Netzer, C, Klein, C, Kohlhase, J, Kubisch, C

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 102 KB

english, 2009

13

A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length

Mangino, M, Richards, J B, Soranzo, N, Zhai, G, Aviv, A, Valdes, A M, Samani, N J, Deloukas, P, Spector, T D

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 206 KB

english, 2009