Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
2.
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Neurobiol Dis
; 185: 106259, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37573958
3.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113008
4.
Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.
Cell Mol Life Sci
; 77(3): 511-529, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218450
5.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
6.
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
Biochem Biophys Res Commun
; 530(3): 520-526, 2020 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620236
7.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997314
8.
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
Hum Mol Genet
; 26(23): 4680-4688, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973148
9.
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Hum Mol Genet
; 24(23): 6603-13, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358774
10.
Cohen syndrome is associated with major glycosylation defects.
Hum Mol Genet
; 23(9): 2391-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334764
11.
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Am J Hum Genet
; 93(1): 141-9, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810378
12.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
13.
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Am J Med Genet A
; 164A(2): 522-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311531
14.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Am J Med Genet A
; 164A(12): 3027-34, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258245
15.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
J Med Genet
; 49(12): 731-6, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23099646
16.
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
J Med Genet
; 49(6): 400-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693284
17.
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Am J Med Genet A
; 158A(2): 333-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22247066
18.
Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis.
J Pathol
; 221(1): 77-86, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20191615
19.
Periodontal disorders in a cohort of patients with Cohen syndrome.
Spec Care Dentist
; 41(1): 118-124, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202072
20.
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Sci Rep
; 11(1): 16412, 2021 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385517