Detalhe da pesquisa
1.
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.
Physiol Genomics
; 56(1): 65-73, 2024 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37955133
2.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38096951
3.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35148383
4.
Ethical principles for the usage and sharing of genomic data from researc.
Cas Lek Cesk
; 161(7-8): 271-275, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36868836
5.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Kidney Int
; 101(2): 349-359, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34560138
6.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet
; 102(3): 447-459, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29499165
7.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30500825
8.
Peritoneal dialysis induces alterations in the transcriptome of peritoneal cells before detectible peritoneal functional changes.
Am J Physiol Renal Physiol
; 318(1): F229-F237, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31760769
9.
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
J Inherit Metab Dis
; 43(4): 694-700, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32216104
10.
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
Int J Cancer
; 145(7): 1782-1797, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31050813
11.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet
; 98(1): 75-89, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26749309
12.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Am J Hum Genet
; 99(1): 174-87, 2016 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27392076
13.
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Am J Med Genet A
; 179(10): 2119-2123, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31369202
14.
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Pediatr Blood Cancer
; 66(4): e27591, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30588737
15.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29967284
16.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Neurol Neurochir Pol
; 53(5): 369-376, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31577365
17.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hum Mol Genet
; 25(18): 4062-4079, 2016 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27466185
18.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology (Oxford)
; 57(7): 1180-1185, 2018 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30423175
19.
Early isolated V-lesion may not truly represent rejection of the kidney allograft.
Clin Sci (Lond)
; 132(20): 2269-2284, 2018 10 31.
Artigo
Inglês
| MEDLINE | ID: mdl-30287520
20.
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Am J Med Genet A
; 176(11): 2430-2434, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30194816