Detalhe da pesquisa
1.
Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Nephrol Dial Transplant
; 38(9): 2019-2030, 2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646436
2.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321323
3.
Extracardiac soft tissue uptake, evidenced on early 99mTc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic value.
Eur J Nucl Med Mol Imaging
; 47(10): 2396-2406, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157431
4.
Central nervous system complications in adult cystinosis patients.
J Inherit Metab Dis
; 43(2): 348-356, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444911
5.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Am J Hum Genet
; 99(1): 208-16, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374773
6.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Am J Hum Genet
; 98(5): 971-980, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108797
7.
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
J Peripher Nerv Syst
; 24(4): 354-358, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31596031
8.
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.
J Med Genet
; 55(6): 378-383, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358270
9.
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Br J Haematol
; 201(4): e46-e49, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928866
10.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Brain
; 140(10): 2586-2596, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969390
11.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466283
12.
SCN10A variants associated with congenital harlequin syndrome.
Br J Dermatol
; 186(6): 1039-1041, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007332
13.
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Am J Hematol
; 97(8): E285-E288, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560067
14.
New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.
Anal Chem
; 88(13): 6696-702, 2016 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27263863
15.
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Am J Hematol
; 96(9): E318-E321, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004026
16.
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Am J Hematol
; 96(4): E121-E123, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460484
17.
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Acta Paediatr
; 109(5): 1060-1061, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721284
18.
In vitro 3D angiogenesis assay in egg white matrix: comparison to Matrigel, compatibility to various species, and suitability for drug testing.
Lab Invest
; 94(3): 340-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395110
19.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
N Engl J Med
; 365(25): 2377-88, 2011 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187985
20.
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Brain
; 141(4): e29, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29529130