Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
3.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 61(6): 595-604, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408845
4.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Am J Med Genet A
; 194(4): e63479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987117
5.
Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
J Allergy Clin Immunol
; 152(5): 1303-1311.e1, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37506976
6.
AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
Rheumatology (Oxford)
; 61(12): 4827-4834, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262642
7.
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
Hum Mutat
; 42(5): 498-505, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600053
8.
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
9.
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
J Exp Med
; 221(5)2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38530241
10.
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
Neuromuscul Disord
; 33(5): 367-370, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996638
11.
First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.
Am J Med Genet A
; 158A(3): 617-21, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302515
12.
Phenotype and cytokine profile in a TRAPS Syndrome family with TNFRSF1A p.(Thr79Met): Association with sacro-iliitis.
Joint Bone Spine
; 89(5): 105411, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577052
13.
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.
Arthritis Rheum
; 62(4): 1176-85, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20131254
14.
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
J Clin Med
; 10(8)2021 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917151
15.
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Inflamm Bowel Dis
; 27(11): 1853-1857, 2021 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525209
16.
Allogeneic bone marrow transplantation in mevalonic aciduria.
N Engl J Med
; 356(26): 2700-3, 2007 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-17596604
17.
Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.
Gene
; 753: 144793, 2020 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446918
18.
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
Semin Arthritis Rheum
; 50(6): 1370-1373, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32252977
19.
Diagnosis traps for patients with acquired NLRP3 mutation.
Eur J Intern Med
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514289
20.
Both rare and common genetic variants contribute to autism in the Faroe Islands.
NPJ Genom Med
; 4: 1, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675382