Cargando…

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yalcintepe, Sinem, Demir, Selma, Atli, Emine Ikbal, Deveci, Murat, Atli, Engin, Gurkan, Hakan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag KG 2020
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490121/ https://www.ncbi.nlm.nih.gov/pubmed/32939518 http://dx.doi.org/10.1055/s-0040-1714092

Ejemplares similares

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
por: Zhuri, Drenushe, et al.
Publicado: (2022)

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
por: Atlı, Engin, et al.
Publicado: (2023)

Clinical Features of Aberrations Chromosome 22q: A Pilot Study
por: Atli, Emine Ikbal, et al.
Publicado: (2021)

Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
por: Atli, Emine Ikbal, et al.
Publicado: (2021)

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
por: Demir, Selma, et al.
Publicado: (2021)

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
por: Yalçıntepe, Sinem, et al.
Publicado: (2021)

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
por: Yalcintepe, Sinem, et al.
Publicado: (2023)

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
por: Yalcintepe, Sinem, et al.
Publicado: (2021)

The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies
por: Atli, Emine Ikbal, et al.
Publicado: (2021)

Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes
por: YALÇINTEPE, Sinem, et al.
Publicado: (2021)

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
por: Eker, Damla, et al.
Publicado: (2022)

Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time
por: Yalçıntepe, Sinem, et al.
Publicado: (2020)

Pros and Cons for Fluorescent in Situ Hybridization, Karyotyping and Next Generation Sequencing for Diagnosis and Follow-up of Multiple Myeloma
por: Ikbal Atli, E, et al.
Publicado: (2021)

A 9-Year-Old-Girl with Phelan McDermid Syndrome, Who Had been Diagnosed with an Autism Spectrum Disorder
por: Görker, I, et al.
Publicado: (2016)

Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome
por: Pereira, Julia P., et al.
Publicado: (2022)

Investigation of Genes Associated With Atherosclerosis in Patients With Systemic Lupus Erythematosus
por: BALCI, Mehmet Ali, et al.
Publicado: (2021)

Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
por: Stark, Veronika C., et al.
Publicado: (2020)

Multi-exon deletions of the FBN1 gene in Marfan syndrome
por: Liu, Wanguo, et al.
Publicado: (2001)

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
por: Hu, Kui, et al.
Publicado: (2022)

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
por: Taniguchi, Yuki, et al.
Publicado: (2023)

Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions
por: Davis, Margaret R., et al.
Publicado: (2016)

Concepts of Double Hit and Triple Hit Disease in Multiple Myeloma, Entity and Prognostic Significance
por: Baysal, Mehmet, et al.
Publicado: (2020)

Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
por: Wang, Yueli, et al.
Publicado: (2018)

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
por: Arnaud, Pauline, et al.
Publicado: (2021)

Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos
por: Zeng, Yanting, et al.
Publicado: (2018)

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother
por: İkbal Atli, E, et al.
Publicado: (2016)

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families
por: Li, Dandan, et al.
Publicado: (2022)

Investigation of The Relationship of TNFRSF11A Gene Polymorphisms with Breast Cancer Development and Metastasis Risk in Patients with BRCA1 Or BRCA2 Pathogenic Variants Living in The Trakya Region of Turkey
por: Özdemir, K, et al.
Publicado: (2021)

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
por: Torrado, Mario, et al.
Publicado: (2018)

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
por: Suliman, Asem, et al.
Publicado: (2022)

A novel FBN1 mutation causes autosomal dominant Marfan syndrome
por: Xiao, Ying, et al.
Publicado: (2017)

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
por: McInerney‐Leo, Aideen M., et al.
Publicado: (2020)

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
por: Arnaud, Pauline, et al.
Publicado: (2021)

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
por: Colovati, Mileny ES, et al.
Publicado: (2012)

Marfan Syndrome Caused by a Novel FBN1 Mutation With Associated Pigmentary Glaucoma
por: Kuchtey, John, et al.
Publicado: (2013)

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
por: Daneshjoo, Omid, et al.
Publicado: (2020)

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
por: Elgaz, Sümeyye, et al.
Publicado: (2022)

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
por: Lin, Jiansheng, et al.
Publicado: (2023)

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
por: Buki, Gergely, et al.
Publicado: (2023)

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome
por: Meng, Bo, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_74hmtn0i0blfr987odq6sn09pf