Volume 46; Issue 4

Journal of Medical Genetics

Volume 46; Issue 4

1

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Miller, D T, Shen, Y, Weiss, L A, Korn, J, Anselm, I, Bridgemohan, C, Cox, G F, Dickinson, H, Gentile, J, Harris, D J, Hegde, V, Hundley, R, Khwaja, O, Kothare, S, Luedke, C, Nasir, R, Poduri, A, Pras

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 342 KB

english, 2009

2

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Willaert, A, Malfait, F, Symoens, S, Gevaert, K, Kayserili, H, Megarbane, A, Mortier, G, Leroy, J G, Coucke, P J, De Paepe, A

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.74 MB

english, 2009

3

Risk reducing mastectomy: outcomes in 10 European centres

Evans, D G R, Baildam, A D, Anderson, E, Brain, A, Shenton, A, Vasen, H F A, Eccles, D, Lucassen, A, Pichert, G, Hamed, H, Moller, P, Maehle, L, Morrison, P J, Stoppat-Lyonnet, D, Gregory, H, Smyth, E

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 134 KB

english, 2009

4

GPR98 mutations cause Usher syndrome type 2 in males

Ebermann, I, Wiesen, M H J, Zrenner, E, Lopez, I, Pigeon, R, Kohl, S, Lowenheim, H, Koenekoop, R K, Bolz, H J

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.27 MB

english, 2009

5

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family

Hilgert, N, Kahrizi, K, Dieltjens, N, Bazazzadegan, N, Najmabadi, H, Smith, R J H, Van Camp, G

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 503 KB

english, 2009

6

Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial

Schmidt, H, Kern, W, Giese, R, Hallschmid, M, Enders, A

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 583 KB

english, 2009

7

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)

Tucker, T, Schnabel, C, Hartmann, M, Friedrich, R E, Frieling, I, Kruse, H-P, Mautner, V-F, Friedman, J M

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 646 KB

english, 2009

8

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

Failly, M, Bartoloni, L, Letourneau, A, Munoz, A, Falconnet, E, Rossier, C, de Santi, M M, Santamaria, F, Sacco, O, DeLozier-Blanchet, C D, Lazor, R, Blouin, J-L

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 402 KB

english, 2009

9

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

Romano, S, Bajolle, F, Valayannopoulos, V, Lyonnet, S, Colomb, V, de Barace, C, Vouhe, P, Pouard, P, Vuillaumier-Barrot, S, Dupre, T, de Keyzer, Y, Sidi, D, Seta, N, Bonnet, D, de Lonlay, P

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

10

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.23 MB

english, 2009

11

The molecular landscape of ASPM mutations in primary microcephaly

Nicholas, A K, Swanson, E A, Cox, J J, Karbani, G, Malik, S, Springell, K, Hampshire, D, Ahmed, M, Bond, J, Di Benedetto, D, Fichera, M, Romano, C, Dobyns, W B, Woods, C G

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

12

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

Berry-Kravis, E, Hessl, D, Coffey, S, Hervey, C, Schneider, A, Yuhas, J, Hutchison, J, Snape, M, Tranfaglia, M, Nguyen, D V, Hagerman, R

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009