Detalhe da pesquisa
1.
A simple clinical score to promote and enhance ferroportin disease screening.
J Hepatol
; 76(3): 568-576, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34748893
2.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30508070
3.
Reduced phenotypic expression in genetic hemochromatosis with time: Role of exposure to non-genetic modifiers.
J Hepatol
; 70(1): 118-125, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30244162
4.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30838450
5.
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Blood Cells Mol Dis
; 74: 30-33, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30389309
6.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31273809
7.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat
; 37(12): 1329-1339, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27363716
8.
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Am J Hematol
; 91(12): 1202-1205, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27518069
9.
Non-invasive diagnosis and follow-up of hyperferritinaemia.
Clin Res Hepatol Gastroenterol
; 46(1): 101762, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34332132
10.
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
J Clin Endocrinol Metab
; 105(9)2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32403133
11.
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Pharmaceuticals (Basel)
; 12(3)2019 Sep 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31505869
12.
Mutational Landscape of DDR2 Gene in Lung Squamous Cell Carcinoma Using Next-generation Sequencing.
Clin Lung Cancer
; 19(2): 163-169.e4, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29129434
13.
Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain.
Neural Dev
; 11(1): 22, 2016 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27923395
14.
Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.
J Ovarian Res
; 9(1): 63, 2016 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27716277
15.
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
PLoS One
; 10(2): e0117418, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25658757
16.
Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus.
Front Neuroanat
; 8: 140, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25520625