Detalhe da pesquisa
1.
Aurora Kinase A proximity map reveals centriolar satellites as regulators of its ciliary function.
EMBO Rep
; 22(8): e51902, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169630
2.
High-level semi-synthetic production of the potent antimalarial artemisinin.
Nature
; 496(7446): 528-32, 2013 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575629
3.
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Neurogenetics
; 19(2): 77-91, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549527
4.
Direct interaction between exocyst and Wave complexes promotes cell protrusions and motility.
J Cell Sci
; 129(20): 3756-3769, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27591259
5.
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Clin Genet
; 90(1): 21-7, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857110
6.
The 17ß-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.
Minerva Endocrinol
; 38(1): 113-22, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23435447
7.
CCDC15 localizes to the centriole inner scaffold and controls centriole length and integrity.
J Cell Biol
; 222(12)2023 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934472
8.
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
Am J Med Genet A
; 158A(4): 856-60, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22419608
9.
Endocrine system involvement in patients with RASopathies: A case series.
Front Endocrinol (Lausanne)
; 13: 1030398, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36483002
10.
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa.
Eat Weight Disord
; 16(1): e69-71, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21051929
11.
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.
Orphanet J Rare Dis
; 16(1): 410, 2021 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34600590
12.
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Am J Med Genet A
; 152A(2): 313-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082460
13.
CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression.
Cell Rep
; 31(6): 107630, 2020 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32402286
14.
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
Clin Genet
; 85(2): 201-2, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495722
15.
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
Eur J Pediatr
; 168(9): 1069-74, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19066956
16.
Holt-Oram syndrome associated with anomalies of the feet.
Am J Med Genet A
; 146A(9): 1185-9, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18351627
17.
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?
J Inherit Metab Dis
; 31 Suppl 2: S227-31, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18437526
18.
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?
J Pediatr Genet
; 6(3): 181-185, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794912
19.
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
Hum Mutat
; 27(6): 600-1, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16705713
20.
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Hum Mutat
; 22(4): 337, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12955720