Detalhe da pesquisa
1.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38079474
2.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35005812
3.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Prenat Diagn
; 36(8): 744-51, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27297286
4.
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Am J Med Genet A
; 167A(12): 3046-53, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26385851
5.
Muscular phenotype description of abnormal THOC2 splicing.
Neuromuscul Disord
; 33(12): 978-982, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37945483
6.
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.
Acta Myol
; 42(4): 106-112, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38406381
7.
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Genes (Basel)
; 13(12)2022 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-36553512
8.
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Kidney Int
; 77(4): 350-8, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19940839
9.
School level of children carrying a HNF1B variant or a deletion.
Eur J Hum Genet
; 28(1): 56-63, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31481685
10.
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Hum Mutat
; 30(6): 934-45, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19367636
11.
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.
Am J Med Genet A
; 149A(6): 1183-9, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19449405
12.
Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.
Eur J Pediatr
; 168(8): 983-9, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19066957
13.
A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.
Int J Biochem Cell Biol
; 117: 105625, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31586593
14.
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Sci Rep
; 9(1): 7919, 2019 05 28.
Artigo
Inglês
| MEDLINE | ID: mdl-31138820
15.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Eur J Hum Genet
; 27(3): 349-352, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30552423
16.
[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling]. / Mutations PKHD1 dans la polykystose autosomique récessive : corrélations génotypephénotype dans une série de 308 cas pour guider le diagnostic anténatal.
Nephrol Ther
; 14(6): 474-477, 2018 Nov.
Artigo
Francês
| MEDLINE | ID: mdl-29703621
17.
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.
Clin Chim Acta
; 448: 146-9, 2015 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26148721
18.
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
J Clin Endocrinol Metab
; 89(10): 4829-32, 2004 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-15472171
19.
Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.
Am J Med Genet A
; 149A(11): 2584-7, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19504602
20.
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
Prenat Diagn
; 24(7): 519-23, 2004 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-15300742