OpenURL Connection Search

Select item for more details and to access through your institution.

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
Published in:
Clinical Genetics, 2011, v. 80, n. 4, p. 398, doi. 10.1111/j.1399-0004.2010.01620.x
By:
- Krahn, M;
- Goicoechea, M;
- Hanisch, F;
- Groen, E;
- Bartoli, M;
- Pécheux, C;
- Garcia-Bragado, F;
- Leturcq, F;
- Jeannet, P-Y;
- Lobrinus, JA;
- Jacquemont, S;
- Strober, J;
- Urtizberea, JA;
- Saenz, A;
- Bushby, K;
- Lévy, N;
- Lopez de Munain, A
Publication type:
Article
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Published in:
Molecular Psychiatry, 2015, v. 20, n. 1, p. 140, doi. 10.1038/mp.2014.145
By:
- Maillard, A M;
- Hippolyte, L;
- Siffredi, V;
- Jacquemont, S;
- Hadjikhani, N;
- Beckmann, J S;
- Ruef, A;
- Adaszewski, S;
- Kherif, F;
- Pizzagalli, F;
- Migliavacca, E;
- Dukart, J;
- Draganski, B;
- Ferrari, C;
- Conus, P;
- Männik, K;
- Zazhytska, M;
- Reymond, A;
- Maeder, P;
- Kutalik, Z
Publication type:
Article
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.
Published in:
Genes, Brain & Behavior, 2012, v. 11, n. 5, p. 577, doi. 10.1111/j.1601-183X.2012.00779.x
By:
- Tassone, F.;
- Greco, C. M.;
- Hunsaker, M. R.;
- Seritan, A. L.;
- Berman, R. F.;
- Gane, L. W.;
- Jacquemont, S.;
- Basuta, K.;
- Jin, L.-W.;
- Hagerman, P. J.;
- Hagerman, R. J.
Publication type:
Article
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Published in:
Nature, 2010, v. 463, n. 7281, p. 671, doi. 10.1038/nature08727
By:
- Walters, R. G.;
- Jacquemont, S.;
- Valsesia, A.;
- de Smith, A. J.;
- Martinet, D.;
- Andersson, J.;
- Falchi, M.;
- Chen, F.;
- Andrieux, J.;
- Lobbens, S.;
- Delobel, B.;
- Stutzmann, F.;
- Moustafa, J. S. El-Sayed;
- Chèvre, J.-C.;
- Lecoeur, C.;
- Vatin, V.;
- Bouquillon, S.;
- Buxton, J. L.;
- Boute, O.;
- Holder-Espinasse, M.
Publication type:
Article
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 8, p. 1760, doi. 10.1093/brain/awf184
By:
- Greco, C. M.;
- Hagerman, R. J.;
- Tassone, F.;
- Chudley, A. E.;
- Del Bigio, M. R.;
- Jacquemont, S.;
- Leehey, M.;
- Hagerman, P. J.
Publication type:
Article
Prevalence of FMR1 Repeat Expansions in Movement Disorders.
Published in:
Neuroepidemiology, 2006, v. 26, n. 3, p. 151, doi. 10.1159/000091656
By:
- Hall, D. A.;
- Hagerman, R. J.;
- Hagerman, P. J.;
- Jacquemont, S.;
- Leehey, M. A.
Publication type:
Article
New quality measure for SNP array based CNV detection.
Published in:
Bioinformatics, 2016, v. 32, n. 21, p. 3298, doi. 10.1093/bioinformatics/btw477
By:
- Macé, A.;
- Tuke, M. A.;
- Beckmann, J. S.;
- Lin, L.;
- Jacquemont, S.;
- Weedon, M. N.;
- Reymond, A.;
- Kutalik, Z.
Publication type:
Article
The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
Published in:
Journal of Intellectual Disability Research, 2022, v. 66, n. 4, p. 313, doi. 10.1111/jir.12918
By:
- White, L. K.;
- Crowley, T. B.;
- Finucane, B.;
- Garcia‐Minaur, S.;
- Repetto, G. M.;
- van den Bree, M.;
- Fischer, M.;
- Jacquemont, S.;
- Barzilay, R.;
- Maillard, A. M.;
- Donald, K. A.;
- Gur, R. E.;
- Bassett, A. S.;
- Swillen, A.;
- McDonald‐McGinn, D. M.
Publication type:
Article

Found: 8