Detalhe da pesquisa
1.
Beating the ER: novel insights into FAM134B function and regulation.
EMBO J
; 39(5): e104546, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073155
2.
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
EMBO J
; 39(17): e105696, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32716134
3.
A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex.
EMBO J
; 38(2)2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559329
4.
Gene expression signatures predict response to therapy with growth hormone.
Pharmacogenomics J
; 21(5): 594-607, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34045667
5.
The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency.
Pharmacogenomics J
; 19(2): 200-210, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29855605
6.
Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease.
Mol Ther
; 24(12): 2054-2063, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27658524
7.
Influence of inhaled corticosteroids on pubertal growth and final height in asthmatic children.
Pediatr Allergy Immunol
; 27(5): 499-506, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26919136
8.
Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.
Acta Paediatr
; 100(7): e43-6, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21342251
9.
Emerging lysosomal pathways for quality control at the endoplasmic reticulum.
FEBS Lett
; 593(17): 2319-2329, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388984
10.
Defective collagen proteostasis and matrix formation in the pathogenesis of lysosomal storage disorders.
Matrix Biol
; 71-72: 283-293, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29870768
11.
Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency.
JCI Insight
; 3(7)2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618660
12.
Brugada syndrome unmasked by febrile illness in an asymptomatic child.
J Pediatr
; 161(4): 769-769.e1, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608909
13.
mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy.
J Clin Invest
; 127(10): 3717-3729, 2017 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28872463
14.
Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.
Cell Death Dis
; 8(6): e2875, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617445
15.
Cancrum oris in a boy with Down syndrome.
J Am Acad Dermatol
; 64(6): 1200-2, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21571193
16.
Network analysis and juvenile idiopathic arthritis (JIA): a new horizon for the understanding of disease pathogenesis and therapeutic target identification.
Pediatr Rheumatol Online J
; 14(1): 40, 2016 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27411317
17.
Growth Hormone Deficiency in Prepubertal Children: Predictive Markers of Cardiovascular Disease.
Horm Res Paediatr
; 85(6): 363-71, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26960169
18.
Cerebral, renal and mesenteric regional oxygen saturation of term infants during transition.
J Pediatr Surg
; 50(8): 1273-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25933924
19.
Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.
J Dermatol Case Rep
; 9(2): 49-51, 2015 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26236414
20.
Pediatric perspective on pharmacogenomics.
Pharmacogenomics
; 14(15): 1889-905, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24236488