Volume 44; Issue 9

Journal of Medical Genetics

Volume 44; Issue 9

1

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment

Van Eyken, E, Van Camp, G, Fransen, E, Topsakal, V, Hendrickx, J J, Demeester, K, Van de Heyning, P, Maki-Torkko, E, Hannula, S, Sorri, M, Jensen, M, Parving, A, Bille, M, Baur, M, Pfister, M, Bonacon

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 310 KB

english, 2007

2

Insulin-degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population

Vepsalainen, S., Parkinson, M., Helisalmi, S., Mannermaa, A., Soininen, H., Tanzi, R. E, Bertram, L., Hiltunen, M.

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 158 KB

english, 2007

3

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

Lachlan, K L, Lucassen, A M, Bunyan, D, Temple, I K

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 243 KB

english, 2007

4

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Zahir, F., Firth, H. V, Baross, A., Delaney, A. D, Eydoux, P., Gibson, W. T, Langlois, S., Martin, H., Willatt, L., Marra, M. A, Friedman, J. M

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 740 KB

english, 2007

5

Cargos and genes: insights into vesicular transport from inherited human disease

Gissen, P., Maher, E. R

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 764 KB

english, 2007

6

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Maas, N. M C, Van de Putte, T., Melotte, C., Francis, A., Schrander-Stumpel, C. T R M, Sanlaville, D., Genevieve, D., Lyonnet, S., Dimitrov, B., Devriendt, K., Fryns, J.-P., Vermeesch, J. R

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 2.14 MB

english, 2007

7

Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax

Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K.

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 936 KB

english, 2007

8

Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension

Marcano, A. C. B., Burke, B., Gungadoo, J., Wallace, C., Kaisaki, P. J, Woon, P. Y, Farrall, M., Clayton, D., Brown, M., Dominiczak, A., Connell, J. M, Webster, J., Lathrop, M., Caulfield, M., Samani,

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 130 KB

english, 2007

9

Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

Mannelli, M, Ercolino, T, Giache, V, Simi, L, Cirami, C, Parenti, G

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 190 KB

english, 2007

10

New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand

Ludtke, A., Buettner, J., Schmidt, H. H-J, Worman, H. J

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 538 KB

english, 2007

11

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Tan, W.-H., Baris, H. N, Burrows, P. E, Robson, C. D, Alomari, A. I, Mulliken, J. B, Fishman, S. J, Irons, M. B

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1022 KB

english, 2007

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