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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Nature genetics, 2004-05, Vol.36 (5), p.449-451

2004

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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12127

2022

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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

International journal of molecular sciences, 2020-01, Vol.21 (1), p.325

2020

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Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

Frontiers in neurology, 2020-09, Vol.11, p.1019-1019

2020

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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

BMC medical genomics, 2018-02, Vol.11 (Suppl 1), p.8-8, Article 8

2018

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A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100754-100754, Article 100754

2021

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Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE

Biomedicines, 2023-02, Vol.11 (2), p.534

2023

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Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome"

Biomedicines, 2022-02, Vol.10 (3), p.567

2022

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Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

Investigative ophthalmology & visual science, 2020-11, Vol.61 (13), p.2-2

2020

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Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum

Gene, 2018-09, Vol.672, p.165-171

2018

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Presentation of Rare Phenotypes Associated with the FKBP10 Gene

Genes, 2024-05, Vol.15 (6), p.674

2024

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The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation

Genes, 2024-01, Vol.15 (2), p.180

2024

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A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

American journal of human genetics, 2000-07, Vol.67 (1), p.37-46

2000

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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

Journal of pediatric genetics (Birmingham, Ala.), 2019-06, Vol.8 (2), p.058-062

2019

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Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

Travmatologii͡a︡ i ortopedii͡a︡ Rossii, 2021-10, Vol.27 (3), p.71-83

2021

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Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic

International journal of molecular epidemiology and genetics, 2018-01, Vol.9 (4), p.34-42

2018

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Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

Human mutation, 2000-04, Vol.15 (4), p.340-347

2000

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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

European journal of human genetics : EJHG, 2001-08, Vol.9 (8), p.646-650

2001

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Clinical and radiological characteristics of two patients with osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygotic variant in the LRP5 gene

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2023-12, Vol.11 (4), p.547-556

2023

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Clinical, genetic, and orthopedic characteristics of large group of patients with diastrophic dysplasia

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2024-04, Vol.12 (1), p.29-41

2024

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Clinical and genetic characteristics of multicentric carpotarsal osteolysis syndrome

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2024-04, Vol.12 (1), p.65-76

2024

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Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2023-04, Vol.11 (1), p.17-28

2023

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Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the FBN1 gene

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2021-10, Vol.9 (3), p.327-337

2021

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Clinical and genetic characteristics and orthopedic manifestations of the Saul–Wilson syndrome in two Russian patients

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2021-01, Vol.8 (4), p.451-460

2021

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Сlinical and genetic characteristics of skeletal cyliopathies – short-rib thoracic dysplasia

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2022-01, Vol.10 (1), p.43-56

2022

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome"

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum

Presentation of Rare Phenotypes Associated with the FKBP10 Gene

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

Clinical and radiological characteristics of two patients with osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygotic variant in the LRP5 gene

Clinical, genetic, and orthopedic characteristics of large group of patients with diastrophic dysplasia

Clinical and genetic characteristics of multicentric carpotarsal osteolysis syndrome

Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia

Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the FBN1 gene

Clinical and genetic characteristics and orthopedic manifestations of the Saul–Wilson syndrome in two Russian patients

Сlinical and genetic characteristics of skeletal cyliopathies – short-rib thoracic dysplasia

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