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1.
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
Stem Cells
; 33(6): 2077-84, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25694335
2.
Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome.
Nature
; 465(7299): 813-7, 2010 Jun 10.
Article
in English
| MEDLINE | ID: mdl-20535211
3.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Am J Hum Genet
; 87(3): 365-70, 2010 Sep 10.
Article
in English
| MEDLINE | ID: mdl-20727515
4.
Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome.
Mol Cell Proteomics
; 8(4): 585-95, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19001410
5.
Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
J Clin Invest
; 116(6): 1713-22, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16741580
6.
Clinical scale ex vivo expansion of cord blood-derived outgrowth endothelial progenitor cells is associated with high incidence of karyotype aberrations.
Exp Hematol
; 36(3): 340-9, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-18082308
7.
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
J Mol Diagn
; 10(3): 272-5, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18403614
8.
Genetic testing in Italy, year 2004.
Eur J Hum Genet
; 14(8): 911-6, 2006 Aug.
Article
in English
| MEDLINE | ID: mdl-16724000
9.
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Epilepsy Res
; 53(3): 196-200, 2003 Mar.
Article
in English
| MEDLINE | ID: mdl-12694927
10.
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
Am J Med Genet A
; 146A(23): 3095-9, 2008 Dec 01.
Article
in English
| MEDLINE | ID: mdl-19006215
11.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Arch Neurol
; 69(3): 322-30, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22083797
12.
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
Br J Haematol
; 137(4): 337-41, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17456055
13.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Am J Hum Genet
; 81(2): 252-63, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17668376
14.
Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.
Lancet
; 361(9369): 1617-20, 2003 May 10.
Article
in English
| MEDLINE | ID: mdl-12747884
15.
Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker.
Br J Haematol
; 125(6): 729-42, 2004 Jun.
Article
in English
| MEDLINE | ID: mdl-15180862
16.
Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome.
Blood
; 106(5): 1887-8, 2005 Sep 01.
Article
in English
| MEDLINE | ID: mdl-16113234
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