The clinical response to elexacaftor/tezacaftor/ivacaftor (ETI) in people with cystic fibrosis carrying the rare cystic fibrosis transmembrane conductance regulator (CFTR) variant W1282R has not been well characterized. We retrospectively analyzed 12 people with cystic fibrosis treated with ETI for 3–36 months in addit...
E. Kondratyeva, A. Efremova, Y. Melyanovskaya et al.· International Journal of Mol...· 0 citations
PURPOSE
SLC26A2-related skeletal dysplasias range from recessive multiple epiphyseal dysplasia (rMED) to lethal atelosteogenesis type 2, but factors underlying clinical variability are not fully defined. This study aimed to delineate genotype-phenotype correlations and identify disease modifiers in the largest cohort r...
Daria Gorodilova, T. Markova, V. Kenis et al.· Genetics in Medicine· 0 citations
13 patients from 12 families with two hereditary diseases of the nervous system, verified by DNA analysis, are described and 8 gene variants are identified, 8 of which have not been previously described.
G. Rudenskaya, A. Kuchina, E. Melnik et al.· Neuromuscular Diseases· 0 citations
It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.
A. Murtazina, Eugenii Tatarsky, I. Viakhireva et al.· Journal of Medical Genetics· 0 citations
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