Cargando…

Epigenetic Findings in Twins with Esophageal Atresia

Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene ex...

Descripción completa

Detalles Bibliográficos
Autores principales:	Błoch, Michal, Gasperowicz, Piotr, Gerus, Sylwester, Rasiewicz, Katarzyna, Lebioda, Arleta, Skiba, Pawel, Płoski, Rafal, Patkowski, Dariusz, Karpiński, Pawel, Śmigiel, Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531363/ https://www.ncbi.nlm.nih.gov/pubmed/37761962 http://dx.doi.org/10.3390/genes14091822

Ejemplares similares

Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia
por: Rozensztrauch, Anna, et al.
Publicado: (2022)

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
por: Klaniewska, Magdalena, et al.
Publicado: (2021)

Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse
por: Sadakierska-Chudy, Anna, et al.
Publicado: (2022)

Pyelonephritis xanthogranulomatosa in a 7-year-old girl
por: Gerus, Sylwester, et al.
Publicado: (2012)

Rare Course of Bilateral Congenital Diaphragmatic Hernia Treated Thoracoscopically—Case Report
por: Toczewski, Krystian, et al.
Publicado: (2020)

Biomechanics of esophageal elongation with traction sutures on experimental animal model
por: Toczewski, Krystian, et al.
Publicado: (2022)

Ingrowing Liver as Atypical Recurrent Diaphragmatic Hernia Presentation—Diagnostic and Treatment Difficulties: A Case Report
por: Borselle, Dominika, et al.
Publicado: (2022)

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
por: Wolańska, Ewelina, et al.
Publicado: (2021)

Laparoscopic ureteroneocystostomy in the treatment of urinary incontinence due to ectopy of the ureters in female dogs: A pilot study
por: Prządka, Przemysław, et al.
Publicado: (2023)

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
por: Śmigiel, Robert, et al.
Publicado: (2020)

Long-Gap Esophageal Atresia Repair Using Staged Thoracoscopic Internal Traction: The First Kazakhstan Experience
por: Sakuov, Zhenis, et al.
Publicado: (2022)

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
por: Stembalska, Agnieszka, et al.
Publicado: (2022)

Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature
por: Abou Chaar, Mohamad K., et al.
Publicado: (2017)

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
por: Smigiel, Robert, et al.
Publicado: (2018)

Eosinophilic Esophagitis in Esophageal Atresia
por: Krishnan, Usha
Publicado: (2019)

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
por: Rydzanicz, Małgorzata, et al.
Publicado: (2020)

Esophageal atresia with tracheo-esophageal fistula
por: Chatterjee, Subir K.
Publicado: (2010)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
por: Truszkowska, Grażyna T., et al.
Publicado: (2017)

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report
por: Serra, Gregorio, et al.
Publicado: (2018)

Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review
por: Szczałuba, Krzysztof, et al.
Publicado: (2020)

Diagnostic Workup of Neonates With Esophageal Atresia: Results From the EUPSA Esophageal Atresia Registry
por: Morini, Francesco, et al.
Publicado: (2020)

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome
por: Machnikowska-Sokołowska, Magdalena, et al.
Publicado: (2020)

New Variant of Esophageal Atresia
por: Harne, Swapnil, et al.
Publicado: (2017)

Cardiac arrest during percutaneous coronary intervention in a patient ‘resistant’ to clopidogrel – successful 50-minute mechanical chest compression
por: Protasiewicz, Marcin, et al.
Publicado: (2013)

Concordant Intestinal Atresia in Two Pairs of Monozygotic Twins
por: Giuffrè, Mario, et al.
Publicado: (2011)

Airway Management of Esophageal Atresia and Tracheoesophageal Fistula Combined with Anal Atresia
por: Zhou, Jieshu, et al.
Publicado: (2022)

Wind Tunnel Performance Tests of the Propellers with Different Pitch for the Electric Propulsion System †
por: Czyż, Zbigniew, et al.
Publicado: (2021)

Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report
por: Cendal, Izabela, et al.
Publicado: (2021)

Respiratory and gastrointestinal symptoms in esophageal atresia
por: de Benedictis, Fernando Maria, et al.
Publicado: (2008)

Tracheal Trifurcation Associated With Esophageal Atresia
por: Sarin, Yogesh Kumar
Publicado: (2010)

Esophageal Atresia With/Without Tracheoesophageal Fistula
por: Gharpure, Vivek
Publicado: (2012)

Anatomic Thoracoscopic Repair of Esophageal Atresia
por: Fonte, Joana, et al.
Publicado: (2017)

The Modified Posterior Thoracotomy for Esophageal Atresia
por: Saiad, Mohamed Oulad
Publicado: (2017)

Impedance Testing in Esophageal Atresia Patients
por: Hassan, Maheen, et al.
Publicado: (2017)

Thoracoscopy for Esophageal Diverticula After Esophageal Atresia With Tracheo-Esophageal Fistula
por: Yong, Zhao, et al.
Publicado: (2021)

Thoracoscopic repair of esophageal atresia with a distal fistula – lessons from the first 10 operations
por: Nachulewicz, Paweł, et al.
Publicado: (2015)

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
por: Slezak, Ryszard, et al.
Publicado: (2021)

Esophageal atresia with tracheo-esophageal fistula: Making anastomosis easy
por: Jadhav, Sudhakar, et al.
Publicado: (2011)

Eosinophilic Esophagitis in Esophageal Atresia: Is It Really a New Disease?
por: Pagliara, Camilla, et al.
Publicado: (2022)

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
por: Stembalska, Agnieszka, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_95cdaoe3e6sl2n63sqoqgcc43l