Cargando…

Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study

PURPOSE: To screen cytochrome P4501B1 (CYP1B1) for causative mutations in Omani patients with a clinical diagnosis of primary congenital glaucoma (PCG) METHODS: Nine PCG families were recruited for the study. All patients underwent detailed clinical examinations to confirm the diagnosis of PCG. The...

Descripción completa

Detalles Bibliográficos
Autores principales:	El-Gayar, Stefan, Ganesh, Anuradha, Chavarria-Soley, Gabriela, Al-Zuhaibi, Sana, Al-Mjeni, Rayhanah, Raeburn, Sandy, Bialasiewicz, Alexander A.
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709423/ https://www.ncbi.nlm.nih.gov/pubmed/19597567

Ejemplares similares

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children
por: Al-Senawi, Rana, et al.
Publicado: (2013)

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization
por: Al-Abri, Mohamed, et al.
Publicado: (2019)

Congenital fibrosis of the extraocular muscles
por: Cooymans, Pascale, et al.
Publicado: (2010)

Visual Rehabilitation by Scleral Fixation of Posterior Chamber Intraocular Lenses in Amblyopic Aphakic Children
por: Ganesh, Anuradha, et al.
Publicado: (2008)

Facing the epidemic of myopia: Exploring the possibilities
por: Mameesh, Maha, et al.
Publicado: (2017)

Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect
por: Al-Alawi, Badriya, et al.
Publicado: (2022)

Am I going blind?
por: Al-Farsi, Ammar Hamad, et al.
Publicado: (2020)

A 22-year-old lady with squint
por: Harikrishna, Beena, et al.
Publicado: (2010)

Compliance of amblyopic patients with occlusion therapy: A pilot study
por: Al-Zuhaibi, Sana, et al.
Publicado: (2009)

First unilateral glaucoma in an Omani boy with neurofibromatosis type 1 initially presented as proptosis with ectropion uvea
por: Al-Habsi, Asaad, et al.
Publicado: (2023)

Investigation of CYP1B1 Gene Involvement in Primary Congenital Glaucoma in Iraqi Children
por: Jubair, Suzanne, et al.
Publicado: (2020)

Primary Congenital Glaucoma and the Involvement of CYP1B1
por: Kaur, Kiranpreet, et al.
Publicado: (2011)

Visually Evoked Potentials after Panretinal Photocoagulation in Omani Patients with Uncontrolled Diabetes Mellitus
por: Shenoy, Radha, et al.
Publicado: (2008)

CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma
por: Faiq, Muneeb A, et al.
Publicado: (2015)

Accommodative esotropia: An outcome analysis from a tertiary center in Oman
por: Sreelatha, OK, et al.
Publicado: (2022)

Transglutaminase-1 Mutations in Omani Families with Lamellar Ichthyosis
por: Al-Naamani, Aisha, et al.
Publicado: (2013)

Radiologic evaluation of congenital anomalies of anterior and posterior arch of atlas in Omani subjects
por: Hinai, Ghaliya Al, et al.
Publicado: (2021)

Chronic myelogenous leukemia in a child following treatment for bilateral retinoblastoma
por: Al-Mahrouqi, Haitham Hilal, et al.
Publicado: (2021)

Rare NF1 microdeletion syndrome in an Omani patient
por: Al‐Araimi, Musallam, et al.
Publicado: (2018)

Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association
por: Aldossari, Shaikha, et al.
Publicado: (2021)

Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma
por: Shah, Manali, et al.
Publicado: (2022)

Short-Term Efficacy of Selective Laser Trabeculoplasty in Omani Eyes with Glaucoma: A Single Institutional Study
por: Al Busaidi, Aisha, et al.
Publicado: (2020)

Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
por: Yang, Mei, et al.
Publicado: (2009)

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
por: Tanwar, Mukesh, et al.
Publicado: (2009)

Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma
por: Sarfarazi, Mansoor
Publicado: (2018)

Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma
por: García-Antón, María T., et al.
Publicado: (2017)

Epidemiology and Outcome of CKD in Omani Children
por: Al Riyami, Mohamed S, et al.
Publicado: (2019)

Hereditary Paraganglioma in an Omani Family
por: Pambinezhthu, Fathima, et al.
Publicado: (2021)

Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: Three novel mutations in CYP1B1
por: Hilal, Latifa, et al.
Publicado: (2010)

The Association of Human Leukocyte Antigens Complex with Type 1 Diabetes in the Omani Population
por: Al-Balushi, Mohammed, et al.
Publicado: (2023)

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma
por: Firasat, Sabika, et al.
Publicado: (2008)

Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
por: Suri, Fatemeh, et al.
Publicado: (2009)

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia
por: Badeeb, Osama M, et al.
Publicado: (2014)

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan
por: Rashid, Muhammad, et al.
Publicado: (2019)

Sleep Patterns and Quality in Omani Adults
por: Al-Abri, Mohammed A, et al.
Publicado: (2020)

Color, flavonoids, phenolics and antioxidants of Omani honey
por: Al-Farsi, Mohamed, et al.
Publicado: (2018)

Drug utilization pattern in an Omani pediatric population
por: Al Balushi, K. A., et al.
Publicado: (2013)

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: Genotype-phenotype correlation
por: Abu-Amero, Khaled K., et al.
Publicado: (2011)

Prevalence of Congenital Uterine Anomalies and Tubal Blockage in Infertile Omani Women: A Retrospective Study
por: Albalushi, Halima, et al.
Publicado: (2023)

Primary Hypothyroidism with Pituitary Hyperplasia in an Omani Girl
por: Abdallah Fadle, Wafa, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7l1vql03329b25pak0qfsknuu5