Associated Papers
The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.
Quinn S et al.
European Journal of Medical Genetics, 2025
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E et al.
Human Mutation, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Ctdp1 deficiency leads to early embryonic lethality in mice and defects in cell cycle progression in MEFs.
Qiao F et al.
Biology Open, 2021
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Safka Brozkova D et al.
Orphanet Journal of Rare Diseases, 2020
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.
Dudakova L et al.
Journal of Ophthalmology, 2020
CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI.
Hu WF et al.
Cell Death Discovery, 2019
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features.
Makrygianni EA et al.
Pediatric Neurology, 2017
Congenital Cataract With Facial Dysmorphism and Neuropathy: Key Clinical Features.
Mosquera-Gorostidi A et al.
Pediatric Neurology, 2016
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.
Chamova T et al.
Behavioural Neurology, 2015
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
Lassuthova P et al.
Orphanet Journal of Rare Diseases, 2014
A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder.
Manganelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.
Yiş U et al.
Pediatric Neurology, 2011
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
Mastroyianni SD et al.
European Journal of Pediatrics, 2007
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
Echaniz-Laguna A et al.
Neuromuscular Disorders : Nmd, 2007
Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
Shabo G et al.
Pediatric Neurology, 2005
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Kalaydjieva L et al.
Neuromuscular Disorders : Nmd, 2005