Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

QR Code

Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

Enregistré dans:

Détails bibliographiques
Auteurs principaux:	Mauricio E Vargas, Mark E Pennesi, Rui Chen, Paul Yang, Richard G Weleber, Mariana Matioli da Palma, Amanda Burr
Format:	article
Langue:	EN
Publié:	BMJ Publishing Group 2021
Sujets:	Ophthalmology RE1-994
Accès en ligne:	https://doaj.org/article/b0f5f7811a3b4385a9a6ea63f548d9dc
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires

Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
par: Ivica Medugorac, et autres
Publié: (2012)

Genetic Autosomal Dominant Disorders: A Knowledge Review
par: Nogueira,Brenna Magdalena Lima, et autres
Publié: (2015)

Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease
par: Ryohei Miyamoto, et autres
Publié: (2021)

Identification of pathological transcription in autosomal dominant polycystic kidney disease epithelia
par: Sebastian Friedrich, et autres
Publié: (2021)

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
par: Rowell HA, et autres
Publié: (2012)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family
par: Shahien R, et autres
Publié: (2011)

Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
par: Mahajan VB, et autres
Publié: (2013)

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
par: Montse Olivé, et autres
Publié: (2019)

Pedigree Go Fish
par: Michael V. Osier
Publié: (2017)

Decreased body mass index in the preclinical stage of autosomal dominant Alzheimer’s disease
par: Stephan Müller, et autres
Publié: (2017)

Metabolic profiling in children and young adults with autosomal dominant polycystic kidney disease
par: Madhurima M. Baliga, et autres
Publié: (2021)

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)
par: Jin-Mo Park, et autres
Publié: (2020)

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort
par: Kunjing Gong, et autres
Publié: (2021)

Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease
par: Tomoyuki Tsukiyama, et autres
Publié: (2019)

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy
par: Marta Zaninello, et autres
Publié: (2020)

Patient-reported outcome measures for pain in autosomal dominant polycystic kidney disease: A systematic review.
par: Patrizia Natale, et autres
Publié: (2021)

Cinacalcet may suppress kidney enlargement in hemodialysis patients with autosomal dominant polycystic kidney disease
par: Shinya Nakatani, et autres
Publié: (2021)

Autosomal dominant polycystic kidney disease with liver involvement and left ventricular noncompaction: An unusual coexistence
par: Aziz İnan Çelik,, et autres
Publié: (2021)

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
par: Chong Kun Cheon, et autres
Publié: (2017)

Drug screening with zebrafish visual behavior identifies carvedilol as a potential treatment for an autosomal dominant form of retinitis pigmentosa
par: Logan Ganzen, et autres
Publié: (2021)

Kidney organoids generated from erythroid progenitors cells of patients with autosomal dominant polycystic kidney disease.
par: Roberta Facioli, et autres
Publié: (2021)

Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model
par: Rebecca V. Walker, et autres
Publié: (2019)

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
par: Nellie Y Loh, et autres
Publié: (2013)

Treatment persistence to tolvaptan in patients with autosomal dominant polycystic kidney disease: a secondary use of data analysis of patients in the IMADJIN® dataset
par: Mark Thomas, et autres
Publié: (2021)

A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
par: Xie Na, et autres
Publié: (2021)

The effect of trichlormethiazide in autosomal dominant polycystic kidney disease patients receiving tolvaptan: a randomized crossover controlled trial
par: Kiyotaka Uchiyama, et autres
Publié: (2021)

Automatic Segmentation of Kidneys using Deep Learning for Total Kidney Volume Quantification in Autosomal Dominant Polycystic Kidney Disease
par: Kanishka Sharma, et autres
Publié: (2017)

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein
par: Céline Schaeffer, et autres
Publié: (2019)

Pedigree Analysis: A Team-Based Learning Activity
par: Jack Thatcher, et autres
Publié: (2017)

Characterization of genome-methylome interactions in 22 nuclear pedigrees.
par: Nongluk Plongthongkum, et autres
Publié: (2014)

Evaluation of the Romosinuano cattle population structure in Mexico using pedigree analysis
par: Rafael Núñez-Domínguez, et autres
Publié: (2020)

A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers.
par: Puya Gharahkhani, et autres
Publié: (2011)

Decline of genetic variability in a captive population of Pacific white shrimp Penaeus (Litopenaeus) vannamei using microsatellite and pedigree information
par: Vela Avitúa,Sergio, et autres
Publié: (2013)

Correlation of Genomic and Pedigree Inbreeding Coefficients in Small Cattle Populations
par: José Cortes-Hernández, et autres
Publié: (2021)

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
par: René Luijk, et autres
Publié: (2018)

Extracellular vesicles and exosomes generated from cystic renal epithelial cells promote cyst growth in autosomal dominant polycystic kidney disease
par: Hao Ding, et autres
Publié: (2021)

A Monoallelic Variant in <i>REST</i> Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family
par: Noluthando Manyisa, et autres
Publié: (2021)

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
par: Christoph Jüschke, et autres
Publié: (2021)

PEDIGREE ANALYSIS AND POPULATION STRUCTURE OF BRAHMAN CATTLE FROM COSTA RICA
par: Vásquez-Loaiza,Marilyn, et autres
Publié: (2021)

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss
par: Yin-Hung Lin, et autres
Publié: (2017)