Detalhe da pesquisa
1.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet;
18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35482848
2.
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
Calcif Tissue Int;
112(4): 512-517, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36656330
3.
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Hum Mutat;
43(9): 1183-1200, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35475527
4.
Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy.
Pediatr Radiol;
52(12): 2329-2341, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35438330
5.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Genet Med;
23(2): 396-407, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33005041
6.
Parenteral iron therapy and phosphorus homeostasis: A review.
Am J Hematol;
96(5): 606-616, 2021 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33471363
7.
The PARADIGHM (physicians advancing disease knowledge in hypoparathyroidism) registry for patients with chronic hypoparathyroidism: study protocol and interim baseline patient characteristics.
BMC Endocr Disord;
21(1): 232, 2021 Nov 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34801015
8.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Hum Mol Genet;
27(18): 3233-3245, 2018 09 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29905864
9.
Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies-expert opinion consensus.
Pediatr Blood Cancer;
67(1): e28036, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31617676
10.
Single Gland, Ectopic Location: Adenomas are Common Causes of Primary Hyperparathyroidism in Children and Adolescents.
World J Surg;
44(5): 1518-1525, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31900569
11.
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
J Hepatol;
71(2): 366-370, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30954460
12.
Proteasome inhibitor bortezomib is a novel therapeutic agent for focal radiation-induced osteoporosis.
FASEB J;
32(1): 52-62, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28860152
13.
Directional memory arises from long-lived cytoskeletal asymmetries in polarized chemotactic cells.
Proc Natl Acad Sci U S A;
113(5): 1267-72, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26764383
14.
Analysis of short-term treatment with the phosphodiesterase type 5 inhibitor tadalafil on long bone development in young rats.
Am J Physiol Endocrinol Metab;
315(4): E446-E453, 2018 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29920215
15.
MR-assisted PET motion correction in simultaneous PET/MRI studies of dementia subjects.
J Magn Reson Imaging;
48(5): 1288-1296, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29517819
16.
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
Am J Med Genet A;
173(7): 1907-1912, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28436160
17.
A painting of the Christ Child with bowed legs: Rickets in the Renaissance.
Am J Med Genet C Semin Med Genet;
187(2): 216-218, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33982432
18.
Low bone mineral density is a common finding in patients with homocystinuria.
Mol Genet Metab;
117(3): 351-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26689745
19.
The etiology and significance of fractures in infants and young children: a critical multidisciplinary review.
Pediatr Radiol;
46(5): 591-600, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26886911
20.
Burosumab treatment of children with X-linked hypophosphataemic rickets.
Lancet;
393(10189): 2364-2366, 2019 06 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31104830