Volume 46; Issue 6

Journal of Medical Genetics

Volume 46; Issue 6

1

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

Brooks, J, Ding, J, Simon-Sanchez, J, Paisan-Ruiz, C, Singleton, A B, Scholz, S W

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.73 MB

english, 2009

2

Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

Ghalamkarpour, A, Holnthoner, W, Saharinen, P, Boon, L M, Mulliken, J B, Alitalo, K, Vikkula, M

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.85 MB

english, 2009

3

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C S., Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner,

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 546 KB

english, 2009

4

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

Espinos, C, Pineda, M, Martinez-Rubio, D, Lupo, V, Ormazabal, A, Vilaseca, M A, Spaapen, L J M, Palau, F, Artuch, R

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 813 KB

english, 2009

5

Genetics of microtia and associated syndromes

Alasti, F, Van Camp, G

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 295 KB

english, 2009

6

Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?

Madeo, A C, Manichaikul, A, Pryor, S P, Griffith, A J

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 136 KB

english, 2009

7

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

Schuurs-Hoeijmakers, J H M, Vermeer, S, van Bon, B W M, Pfundt, R, Marcelis, C, de Brouwer, A P M, de Leeuw, N, de Vries, B. B A

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.21 MB

english, 2009

8

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Knijnenburg, J, Oberstein, S A J L., Frei, K, Lucas, T, Gijsbers, A C J, Ruivenkamp, C A L, Tanke, H J, Szuhai, K

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 705 KB

english, 2009

9

Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

Nakayama, K, Bayasgalan, T, Yamanaka, K, Kumada, M, Gotoh, T, Utsumi, N, Yanagisawa, Y, Okayama, M, Kajii, E, Ishibashi, S, Iwamoto, S

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

10

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

Kratz, C P, Holter, S, Etzler, J, Lauten, M, Pollett, A, Niemeyer, C M, Gallinger, S, Wimmer, K

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 526 KB

english, 2009

11

Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers

Manchanda, R, Rosenthal, A, Burnell, M, Fraser, L, Mackay, J, Skates, S

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 167 KB

english, 2009

12

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domene, S, Velez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delga

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 445 KB

english, 2009