Works matching IS 00099163 AND DT 2007 AND VI 71 AND IP 4

Results: 12

LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson’s disease.

Published in:

2007

By:

Civitelli, D.;
Tarantino, P.;
Nicoletti, G.;
Cirò Candiano, I.C.;
Annesi, F.;
De Marco, E.V.;
Carrideo, S.;
Rocca, F.E.;
Condino, F.;
Spadafora, P.;
Pugliese, P.;
D'Asero, S.;
Morelli, M.;
Paglionico, S.;
Annesi, G.;
Quattrone, A.

Publication type:

Letter

Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 331, doi. 10.1111/j.1399-0004.2007.00773.x

By:

Lim, Y.K.;
Iau, P.T.C.;
Ali, A.B.;
Lee, S.C.;
Wong, J.E.-L.;
Putti, T.C.;
Sng, J.-H.

Publication type:

Article

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 350, doi. 10.1111/j.1399-0004.2007.00777.x

By:

Cukjati, M.;
Koren, S.;
Čurin Šerbec, V.;
Vidan-Jeras, B.;
Rupreht, R.

Publication type:

Article

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 343, doi. 10.1111/j.1399-0004.2007.00774.x

By:

Claramunt, R.;
Sevilla, T.;
Lupo, V.;
Cuesta, A.;
Millán, J.M.;
Vílchez, J.J.;
Palau, F.;
Espinós, C.

Publication type:

Article

Tuberous sclerosis complex and myocardial fat-containing lesions: a report of four cases.

Published in:

2007

By:

Winterkorn, E.B.;
Dodd, J.D.;
Inglessis, I.;
Holmvang, G.;
Thiele, E.A.

Publication type:

Letter

Loss-of-function mutations in the Na<sub>v</sub>1.7 gene underlie congenital indifference to pain in multiple human populations.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 311, doi. 10.1111/j.1399-0004.2007.00790.x

By:

Goldberg, Y.P.;
MacFarlane, J.;
MacDonald, M.L.;
Thompson, J.;
Dube, M.-P.;
Mattice, M.;
Fraser, R.;
Young, C.;
Hossain, S.;
Pape, T.;
Payne, B.;
Radomski, C.;
Donaldson, G.;
Ives, E.;
Cox, J.;
Younghusband, H.B.;
Green, R.;
Duff, A.;
Boltshauser, E.;
Grinspan, G.A.

Publication type:

Article

Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 320, doi. 10.1111/j.1399-0004.2007.00782.x

By:

Verot, L.;
Chikh, K.;
Freydière, E.;
Honor, R.;
Vanier, M.T.;
Millat, G.

Publication type:

Article

Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 359, doi. 10.1111/j.1399-0004.2007.00780.x

By:

Parra, E.J.;
Cameron, E.;
Simmonds, L.;
Valladares, A.;
McKeigue, P.;
Shriver, M.;
Wacher, N.;
Kumate, J.;
Kittles, R.;
Cruz, M.

Publication type:

Article

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 354, doi. 10.1111/j.1399-0004.2007.00778.x

By:

Evans, D.G.R.;
Ramsden, R.T.;
Gokhale, C.;
Bowers, N.;
Huson, S.M.;
Wallace, A.

Publication type:

Article

Late-onset GSDII with novel GAA gene mutation.

Published in:

2007

By:

Angelini, C.;
Nascimbeni, A.C.

Publication type:

Letter

Toward understanding the genetic basis of neural tube defects.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 295, doi. 10.1111/j.1399-0004.2007.00793.x

By:

Kibar, Z;
Capra, V;
Gros, P

Publication type:

Article

Psychopathology and personality aspects of adults with Möbius sequence.

Published in:

2007

By:

Briegel, W.

Publication type:

Letter