Volume 46; Issue 3

Journal of Medical Genetics

Volume 46; Issue 3

1

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

Bartholdi, D, Krajewska-Walasek, M, Ounap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 232 KB

english, 2008

2

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

Depienne, C, Trouillard, O, Saint-Martin, C, Gourfinkel-An, I, Bouteiller, D, Carpentier, W, Keren, B, Abert, B, Gautier, A, Baulac, S, Arzimanoglou, A, Cazeneuve, C, Nabbout, R, LeGuern, E

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 2.62 MB

english, 2008

3

Disruption of contactin 4 in three subjects with autism spectrum disorder

Roohi, J, Montagna, C, Tegay, D H, Palmer, L E, DeVincent, C, Pomeroy, J C, Christian, S L, Nowak, N, Hatchwell, E

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.11 MB

english, 2008

4

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Lalani, S R, Thakuria, J V, Cox, G F, Wang, X, Bi, W, Bray, M S, Shaw, C, Cheung, S W, Chinault, A C, Boggs, B A, Ou, Z, Brundage, E K, Lupski, J R, Gentile, J, Waisbren, S, Pursley, A, Ma, L, Khajavi

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.60 MB

english, 2008

5

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

Garcia-Consuegra, I, Rubio, J C, Nogales-Gadea, G, Bautista, J, Jimenez, S, Cabello, A, Lucia, A, Andreu, A L, Arenas, J, Martin, M A

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 273 KB

english, 2008

6

Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma

Armstrong, R, Greenhalgh, K L, Rattenberry, E, Judd, B, Shukla, R, Losty, P D, Maher, E R

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 966 KB

english, 2008

7

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 520 KB

english, 2008

8

Correction

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 155 KB

english, 2008

9

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms

Bruce, S, Nyberg, F, Melen, E, James, A, Pulkkinen, V, Orsmark-Pietras, C, Bergstrom, A, Dahlen, B, Wickman, M, von Mutius, E, Doekes, G, Lauener, R, Riedler, J, Eder, W, van Hage, M, Pershagen, G, Sc

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

10

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

Stewart, J D, Tennant, S, Powell, H, Pyle, A, Blakely, E L, He, L, Hudson, G, Roberts, M, du Plessis, D, Gow, D, Mewasingh, L D, Hanna, M G, Omer, S, Morris, A A, Roxburgh, R, Livingston, J H, McFarla

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.04 MB

english, 2008

11

Inherited mitochondrial optic neuropathies

Yu-Wai-Man, P, Griffiths, P G, Hudson, G, Chinnery, P F

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 790 KB

english, 2008