Detalhe da pesquisa
1.
Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis.
J Neuroinflammation;
18(1): 270, 2021 Nov 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34789272
2.
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Genet Med;
23(4): 720-731, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33303968
3.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Haematologica;
106(4): 1220-1225, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33327715
4.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
J Inherit Metab Dis;
44(5): 1235-1247, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34014569
5.
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Hum Mutat;
41(2): 397-402, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31680380
6.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Clin Genet;
95(1): 177-181, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30298622
7.
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
em Inglês
| MEDLINE
| ID: mdl-31273809
8.
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.
J Med Genet;
55(2): 131-136, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28754700
9.
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
J Med Genet;
55(4): 278-284, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29358272
10.
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
11.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet;
55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29618507
12.
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
Hum Mutat;
39(7): 970-982, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29664219
13.
Autism spectrum disorders in propionic acidemia patients.
J Inherit Metab Dis;
41(4): 623-629, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28856627
14.
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.
J Med Genet;
54(5): 324-329, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28069933
15.
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
J Allergy Clin Immunol;
140(6): 1671-1682.e2, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28249776
16.
Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.
J Hepatol;
2017 Sep 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28939132
17.
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Hum Mutat;
37(12): 1354-1362, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27650058
18.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A;
170A(1): 116-29, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26420639
19.
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
Hum Mol Genet;
22(9): 1867-72, 2013 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23390135
20.
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Am J Med Genet A;
167A(8): 1908-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25846674