Detalhe da pesquisa
1.
Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.
Am J Kidney Dis
; 2023 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-37844724
2.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32732226
3.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35163737
4.
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Am J Med Genet A
; 185(3): 937-944, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33438842
5.
Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.
Adv Skin Wound Care
; 34(11): 1-4, 2021 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34669667
6.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31513310
7.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32954514
8.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Genet Med
; 21(6): 1407-1416, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30393377
9.
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
J Inherit Metab Dis
; 41(1): 129-139, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28924877
10.
Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult.
Eur Respir J
; 55(4)2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31980489
11.
Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Genet Med
; 21(11): 2654-2655, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31105273
12.
Stuve-Wiedemann syndrome: is it underrecognized?
Am J Med Genet A
; 164A(9): 2200-5, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24988918
13.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
J Med Genet
; 50(10): 704-14, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23847141
14.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Ann Clin Transl Neurol
; 11(6): 1478-1491, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38703036
15.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38284452
16.
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Kidney Int Rep
; 8(3): 596-605, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36938085
17.
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Mol Genet Metab
; 107(4): 700-4, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23141463
18.
Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review.
Mol Diagn Ther
; 26(2): 189-202, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35195858
19.
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Eur J Med Genet
; 65(3): 104445, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35091117
20.
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Hum Mutat
; 32(11): 1225-31, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21786366