Detalhe da pesquisa
1.
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.
Expert Rev Proteomics
; 20(7-9): 171-188, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788157
2.
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
J Inherit Metab Dis
; 43(4): 657-670, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32017139
3.
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Am J Med Genet A
; 176(12): 2901-2906, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346094
4.
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
Genes (Basel)
; 15(4)2024 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674365
5.
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.
Front Genet
; 14: 1082100, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845402
6.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Brain
; 139(Pt 1): e3, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297558
7.
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Exp Neurol
; 357: 114203, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970204
8.
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.
Blood
; 114(8): 1655-7, 2009 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19553636
9.
The clear cell sarcoma functional genomic landscape.
J Clin Invest
; 131(15)2021 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34156976
10.
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
Eur J Haematol
; 84(4): 291-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20002731
11.
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
Eur J Pediatr
; 169(2): 223-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19536562
12.
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
Mol Syndromol
; 11(3): 125-129, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32903844
13.
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone.
Bone
; 134: 115302, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112988
14.
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
Front Neurol
; 10: 131, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30853934
15.
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.
Ann Clin Transl Neurol
; 6(8): 1533-1540, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402623
16.
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Hum Mutat
; 29(3): 409-17, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18059020
17.
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.
Eur J Hum Genet
; 15(8): 889-97, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17487221
18.
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
Int J Mol Med
; 19(3): 429-35, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17273791
19.
Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections.
Diagn Mol Pathol
; 14(3): 170-6, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16106199
20.
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Medicine (Baltimore)
; 82(3): 203-15, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12792306