Cargando…

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

The frequency of pathogenic large chromosome rearrangements detected in patients with different Mendelian diseases is truly diverse and can be remarkably high. Chromosome breaks could arise through different known mechanisms. Congenital PAX6-associated aniridia is a hereditary eye disorder caused by...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Kutsev, Sergey I., Zinchenko, Rena A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397088/ https://www.ncbi.nlm.nih.gov/pubmed/32708836 http://dx.doi.org/10.3390/genes11070812

Ejemplares similares

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
por: Vasilyeva, Tatyana A., et al.
Publicado: (2022)

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
por: Vasilyeva, Tatyana A., et al.
Publicado: (2020)

Visual Acuity in Aniridia and WAGR Syndrome
por: Krause, Michael A, et al.
Publicado: (2023)

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation
por: Petrova, Nika, et al.
Publicado: (2021)

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania
por: Petrova, Nika, et al.
Publicado: (2023)

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
por: Blanco-Kelly, Fiona, et al.
Publicado: (2017)

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2021)

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2022)

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
por: Marakhonov, Andrey V., et al.
Publicado: (2018)

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
por: Petrova, Nika V., et al.
Publicado: (2022)

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
por: Marakhonov, Andrey V., et al.
Publicado: (2020)

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
por: Petrova, Nika V., et al.
Publicado: (2021)

Prenatal Diagnosis of WAGR Syndrome
por: Tezcan, Berrin, et al.
Publicado: (2015)

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management
por: Duffy, Kelly A., et al.
Publicado: (2021)

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020)

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020)

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population
por: Kadyshev, Vitaly V., et al.
Publicado: (2023)

Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts
por: Oseni, Ganiyu O., et al.
Publicado: (2018)

Sustained endocrine profiles of a girl with WAGR syndrome
por: Takada, Yui, et al.
Publicado: (2017)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
por: Zinchenko, Rena A., et al.
Publicado: (2020)

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
por: Ionova, Sofya A., et al.
Publicado: (2022)

Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases
por: Wang, Qiwei, et al.
Publicado: (2022)

Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing
por: Meng, Yan, et al.
Publicado: (2020)

Sequences of COVID-19 in a child with WAGR syndrome: A case report
por: Jomaa, Sami, et al.
Publicado: (2021)

A novel PAX6 deletion in a Chinese family with congenital aniridia
por: Chen, Jian Huan, et al.
Publicado: (2012)

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
por: Marakhonov, Andrey V., et al.
Publicado: (2020)

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
por: Bandah, Dikla, et al.
Publicado: (2008)

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
por: Sharova, Margarita, et al.
Publicado: (2023)

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
por: Tayeh, Marwan K, et al.
Publicado: (2015)

Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype
por: Zhang, Xiaohui, et al.
Publicado: (2011)

Color Vision in Aniridia
por: Pedersen, Hilde R., et al.
Publicado: (2018)

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians
por: Makretskaya, Nina, et al.
Publicado: (2023)

Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report
por: Miura, Rie, et al.
Publicado: (2016)

The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene
por: Justice, Elizabeth D., et al.
Publicado: (2017)

Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga–Ural Region
por: Khidiyatova, Irina, et al.
Publicado: (2023)

Correction: The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene
por: Justice, Elizabeth D., et al.
Publicado: (2017)

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience
por: Hol, Janna A., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_eeeutrd5tv55m3sigiif70lkq8