Detalles de la búsqueda
1.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36524988
2.
Haplotype of the astrocytic water channel AQP4 is associated with slow wave energy regulation in human NREM sleep.
PLoS Biol
; 18(5): e3000623, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32369477
3.
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.
Int J Mol Sci
; 24(23)2023 Nov 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38068917
4.
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
Hum Mol Genet
; 29(1): 132-148, 2020 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31696227
5.
Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.
Int J Mol Sci
; 23(3)2022 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35162975
6.
Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE.
Int J Mol Sci
; 23(6)2022 Mar 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35328615
7.
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
Int J Mol Sci
; 23(13)2022 Jul 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35806387
8.
[The Role of Heart-Focused Anxiety in the Need for Psychological Support and Self-Assessment of Early Retirement - Indications from Cardiac Inpatient Rehabilitation]. / Bedeutung der Herzangst für den psychologischen Betreuungsbedarf und die subjektive Erwerbsprognose Hinweise aus der stationären kardiologischen Rehabilitation.
Rehabilitation (Stuttg)
; 61(3): 162-169, 2022 Jun.
Artículo
en Alemán
| MEDLINE | ID: mdl-34768293
9.
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Int J Mol Sci
; 22(4)2021 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33546218
10.
[Are Intensified Secondary Prevention Programmes Effective Interventions to Reduce Disability-Related Early Retirement After Cardiac Rehabilitation?] / Weniger Erwerbsminderungsrenten nach der kardiologischen Rehabilitation durch intensivierte Nachsorge?
Rehabilitation (Stuttg)
; 60(4): 273-280, 2021 Aug.
Artículo
en Alemán
| MEDLINE | ID: mdl-33477193
11.
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.
Int J Mol Sci
; 21(24)2020 Dec 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33339270
12.
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
Hum Mol Genet
; 26(21): 4203-4214, 2017 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29088427
13.
Macular Corneal Dystrophy - Molecular Genetics as the Key in Treatment-Refractory Keratopathy.
Klin Monbl Augenheilkd
; 241(4): 398-401, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38653268
14.
Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.
Int J Legal Med
; 132(4): 1057-1065, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29350269
15.
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.
Europace
; 19(6): 1063-1069, 2017 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27194543
16.
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
J Med Genet
; 53(6): 419-25, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26843489
17.
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
Int J Legal Med
; 130(4): 1011-1021, 2016 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26846766
18.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Proc Natl Acad Sci U S A
; 110(24): 9856-61, 2013 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23716654
19.
Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans.
J Neurosci
; 34(2): 566-73, 2014 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-24403155
20.
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
Hum Mol Genet
; 22(16): 3218-26, 2013 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23578822