Detalhe da pesquisa
1.
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Hum Reprod
; 36(11): 2975-2991, 2021 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480478
2.
Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.
Clin Genet
; 95(2): 231-240, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29672823
3.
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.
J Endocrinol Invest
; 41(8): 929-936, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302920
4.
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.
Clin Genet
; 89(4): 403-415, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26138266
5.
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.
Clin Genet
; 89(5): 557-63, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663098
6.
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Clin Genet
; 89(1): 74-81, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652421
7.
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Clin Genet
; 90(1): 21-7, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857110
8.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Clin Genet
; 89(5): 564-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26671848
9.
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Clin Genet
; 88(5): 431-40, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388907
10.
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Clin Genet
; 87(2): 148-54, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24476420
11.
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
J Med Genet
; 49(1): 66-74, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984751
12.
Acquisition of high metastatic capacity after in vitro fusion of a nonmetastatic tumor line with a bone marrow-derived macrophage.
J Exp Med
; 160(5): 1579-84, 1984 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-6491605
13.
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
Clin Genet
; 78(6): 560-4, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20331678
14.
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
Am J Med Genet A
; 152A(10): 2588-94, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20734427
15.
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Neurogenetics
; 10(3): 241-50, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19241098
16.
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Clin Genet
; 74(6): 531-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18798846
17.
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
J Med Genet
; 44(4): 257-63, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17259293
18.
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines.
Oncogene
; 25(10): 1571-83, 2006 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-16247447
19.
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
J Med Genet
; 43(8): e39, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16882733
20.
Distinct expression pattern of microtubule-associated protein/microtubule affinity-regulating kinase 4 in differentiated neurons.
Neuroscience
; 143(1): 83-94, 2006 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-16973293