Cargando…

Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time

Detalles Bibliográficos
Autores principales:	Yalçıntepe, Sinem, Gürkan, Hakan, Atlı, Engin, Sayın, Niyazi Cenk, Başaran, Ümit Nusret
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2020
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424187/ https://www.ncbi.nlm.nih.gov/pubmed/32106665 http://dx.doi.org/10.4274/balkanmedj.galenos.2020.2019.11.128

Ejemplares similares

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
por: Yalcintepe, Sinem, et al.
Publicado: (2020)

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)

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)

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

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

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)

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
por: Yalcintepe, 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)

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)

Functional Aerophagia in a Pediatric Patient with Abdominal Distension
por: İnanç, İrem, et al.
Publicado: (2019)

Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis
por: Shao, Hongxia, 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)

Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea
por: Ryu, Mi Ra, et al.
Publicado: (2019)

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

Pulmonary hypertension may be secondary in carriers of compound heterozygous FOXRED1 variants
por: Finsterer, Josef
Publicado: (2019)

Bilateral lobar lung transplantation for cystic fibrosis – first in Poland
por: Nieborak-Raczkowska, Marta, et al.
Publicado: (2019)

CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline
por: Miller, Dustin B., et al.
Publicado: (2021)

First and second wave of SARS-CoV2 in Italian Cystic Fibrosis patients: Data from Italian Cystic Fibrosis Registry
por: Padoan, Rita, et al.
Publicado: (2021)

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
por: Park, Hyung Jun, et al.
Publicado: (2016)

The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
por: Shakir, Aamina, et al.
Publicado: (2018)

Congenital Superior Sternal Cleft Repair Using Primary Closure
por: Karamustafaoğlu, Yekta Altemur, et al.
Publicado: (2019)

Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”
por: Finsterer, Josef
Publicado: (2020)

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
por: Berry, Gerard T.
Publicado: (2017)

A Case of AOA2 With Compound Heterozygous SETX Mutations
por: Chang, Hee Jin, et al.
Publicado: (2022)

IRAK-4 Variants in acute coronary syndrome patients
por: Ergen, Arzu, et al.
Publicado: (2017)

Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy
por: Jiang, Xuan, et al.
Publicado: (2020)

Inquilinus limosus and Cystic Fibrosis
por: Bittar, Fadi, et al.
Publicado: (2008)

Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
por: Yoo, Dae San, et al.
Publicado: (2020)

Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease
por: Park, Hyejin, et al.
Publicado: (2021)

A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy
por: Zhao, Ruiqin, et al.
Publicado: (2022)

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review
por: Miller, Dustin B., et al.
Publicado: (2020)

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
por: Szczepanek-Parulska, Ewelina, et al.
Publicado: (2020)

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
por: Nohara, Fumikatsu, et al.
Publicado: (2022)

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
por: Landim-Vieira, Maicon, et al.
Publicado: (2020)

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
por: Shi, Lisong, et al.
Publicado: (2019)

Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia
por: Ji, Min-Jin, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_cl2qsbofba5de0ee3orciqgfoj