Detalhe da pesquisa
1.
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Am J Hum Genet
; 96(2): 258-65, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597511
2.
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.
BMC Med Genet
; 19(1): 184, 2018 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30305042
3.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
J Med Genet
; 53(11): 768-775, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412952
4.
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Scand J Clin Lab Invest
; 77(8): 617-621, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29037082
5.
Hearing impairment and renal failure associated with RMND1 mutations.
Am J Med Genet A
; 170A(1): 142-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395190
6.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475597
7.
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
J Med Genet
; 52(3): 203-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604084
8.
Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis.
Pediatr Res
; 75(4): 551-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375084
9.
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.
Am J Med Genet A
; 161A(9): 2358-62, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894085
10.
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Hum Mutat
; 33(7): 1031-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22415763
11.
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
J Med Genet
; 48(5): 308-11, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278389
12.
Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
Am J Med Genet A
; 155A(11): 2841-54, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21964744
13.
Patients with Rett syndrome sustain low-energy fractures.
Pediatr Res
; 69(4): 359-64, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21178819
14.
Analysis of the Phenotypes in the Rett Networked Database.
Int J Genomics
; 2019: 6956934, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31049350
15.
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
JIMD Rep
; 33: 69-77, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604842
16.
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.
JIMD Rep
; 25: 65-70, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108648
17.
MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.
PLoS One
; 11(3): e0150101, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26930212
18.
Large genomic rearrangements in MECP2.
Hum Mutat
; 25(3): 324, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15712379
19.
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Eur J Hum Genet
; 13(10): 1113-20, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16015284
20.
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
Eur J Hum Genet
; 13(10): 1121-30, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16077736