Cargando…

Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation

Detalles Bibliográficos
Autores principales:	Niu, Bei-Bei, Tang, Ning, Xu, Qin, Chai, Pei-Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166469/ https://www.ncbi.nlm.nih.gov/pubmed/30246734 http://dx.doi.org/10.4103/0366-6999.241818

Ejemplares similares

FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Wang, Juan, et al.
Publicado: (2007)

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome
por: Méjécase, Cécile, et al.
Publicado: (2021)

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Xue, Min, et al.
Publicado: (2015)

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
por: Tan, Hu, et al.
Publicado: (2015)

Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency
por: Yang, Xiao‐Wen, et al.
Publicado: (2018)

Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome
por: Li, Fang, et al.
Publicado: (2021)

Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations
por: Meng, Tingting, et al.
Publicado: (2022)

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
por: Zhou, Lu, et al.
Publicado: (2018)

Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins
por: KIM, Jae-Hong, et al.
Publicado: (2013)

A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome
por: Setty, Gururaj, et al.
Publicado: (2012)

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I
por: Chai, Peiwei, et al.
Publicado: (2017)

Follicular Dowling-Degos Disease and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Chance or Significant Association
por: Kumari, Pramila, et al.
Publicado: (2021)

Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Hu, Shanshan, et al.
Publicado: (2011)

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family
por: Gupta, Abhinav Kumar, et al.
Publicado: (2017)

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases
por: Alkhairy, Saba, et al.
Publicado: (2022)

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
por: Shah, Bhavin M, et al.
Publicado: (2014)

Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series
por: Bonus, Marissa L., et al.
Publicado: (2021)

Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
por: Nabih, Omar, et al.
Publicado: (2022)

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Cheng, Tianling, et al.
Publicado: (2021)

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family
por: Lin, Zhi-Bo, et al.
Publicado: (2023)

A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone
por: Jagadeesan, Soumya, et al.
Publicado: (2015)

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
por: Kemmanu, Vasudha, et al.
Publicado: (2016)

Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome
por: Wang, Yuan, et al.
Publicado: (2022)

Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report
por: Grzechocińska, Barbara, et al.
Publicado: (2019)

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation
por: Balkin, Daniel M., et al.
Publicado: (2018)

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome
por: Ramineni, Anand, et al.
Publicado: (2016)

Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome
por: Zhang, Li, et al.
Publicado: (2013)

Syndrome de blépharophimosis: une forme particulière du ptosis congénital
por: Handor, Hanan, et al.
Publicado: (2015)

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome
por: Amer, Ahmed Ali, et al.
Publicado: (2022)

Single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients
por: Mehta, Anuj, et al.
Publicado: (2021)

Thread Lift in Breast Ptosis
por: Arora, Gulhima, et al.
Publicado: (2017)

Thymoma Complicated by Situs Inversus Totalis
por: Yang, Kai-Lai, et al.
Publicado: (2016)

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
por: Paprocka, Justyna, et al.
Publicado: (2021)

A trigger-happy soldier with bilateral ptosis and dysphagia
por: Ahmad, F.M.H., et al.
Publicado: (2015)

Der Epicanthus und das Epiblepharon
Publicado: (1860)

Cosmetic outcomes of epicanthoplasty for epicanthus tarsalis
por: Fatani, Dalal R., et al.
Publicado: (2023)

Favre-Racouchot Syndrome with Bilateral Mechanical Ptosis: An Unusual Presentation
por: Kakhandaki, Anupama A, et al.
Publicado: (2014)

Single stage surgery for Blepharophimosis syndrome
por: Bhattacharjee, Kasturi, et al.
Publicado: (2012)

Single-stage surgery for Blepharophimosis syndrome
por: Bhattacharjee, Kasturi, et al.
Publicado: (2013)

ACE insertion/deletion polymorphism in sepsis and acute respiratory distress syndrome
por: Brugts, J. J., et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_e3mk38n59jb4q6dsp97q113gkn