Cargando…

Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder

Detalles Bibliográficos
Autores principales:	Abu-Amero, Khaled K., Kondkar, Altaf A., Hellani, Ali M., Bosley, Thomas M., Khan, Arif O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Riyadh : Armed Forces Hospital 2016
Materias:	Clinical Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224418/ https://www.ncbi.nlm.nih.gov/pubmed/26818173 http://dx.doi.org/10.17712/nsj.2016.1.20150098

Ejemplares similares

A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
por: Abu-Amero, Khaled K., et al.
Publicado: (2017)

Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder
por: Pandey, Pramod K, et al.
Publicado: (2020)

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]
por: Schröder, Julia C, et al.
Publicado: (2013)

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders
por: Kim, Jae Hyoung, et al.
Publicado: (2017)

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders
por: Jia, Hongyan, et al.
Publicado: (2022)

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder
por: Sedarous, Fady, et al.
Publicado: (2018)

Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve
por: Gupta, Chanchal, et al.
Publicado: (2017)

Utility of Circulating MicroRNAs as Clinical Biomarkers for Cardiovascular Diseases
por: Kondkar, Altaf A., et al.
Publicado: (2015)

Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort
por: Kondkar, Altaf A., et al.
Publicado: (2018)

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
por: Abu-Amero, Khaled K, et al.
Publicado: (2010)

Congenital Ptosis Associated With Adduction as a Dysinnervation Disorder: A Report of a Rare Case
por: Alnosair, Ghadah, et al.
Publicado: (2023)

Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia
por: Hellani, Ali, et al.
Publicado: (2006)

An Updated Review on the Genetics of Primary Open Angle Glaucoma
por: Abu-Amero, Khaled, et al.
Publicado: (2015)

Resveratrol and Ophthalmic Diseases
por: Abu-Amero, Khaled K., et al.
Publicado: (2016)

Genetics of Keratoconus: Where Do We Stand?
por: Abu-Amero, Khaled K., et al.
Publicado: (2014)

Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort
por: Kalantan, Hatem, et al.
Publicado: (2017)

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
por: Mohamed, Sarar, et al.
Publicado: (2015)

Sirtuins Expression and Their Role in Retinal Diseases
por: Balaiya, Sankarathi, et al.
Publicado: (2017)

Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions
por: Abu-Amero, Khaled K, et al.
Publicado: (2009)

Congenital third nerve palsy with synergistic depression on attempted adduction and trigemino-oculomotor synkinesis: Underpinnings of a spectral dysinnervation disorder
por: Pandey, Pramod Kumar, et al.
Publicado: (2016)

Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin
por: Abu-Amero, Khaled K, et al.
Publicado: (2018)

Absence of mtDNA mutations in leukocytes of CADASIL patients
por: Abu-Amero, Khaled K, et al.
Publicado: (2008)

A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report
por: Hellani, Ali, et al.
Publicado: (2009)

High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma
por: Abu-Amero, Khaled K., et al.
Publicado: (2009)

Down-regulation of OPA1 in patients with primary open angle glaucoma
por: Bosley, Thomas M., et al.
Publicado: (2011)

Decreased total antioxidants status in the plasma of patients with pseudoexfoliation glaucoma
por: Abu-Amero, Khaled K., et al.
Publicado: (2011)

Lack of association of SNP rs4236601 near CAV1 and CAV2 with POAG in a Saudi cohort
por: Abu-Amero, Khaled K., et al.
Publicado: (2012)

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
por: Rodan, Lance H., et al.
Publicado: (2016)

Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma
por: Abu-Amero, Khaled K., et al.
Publicado: (2008)

Keratoconus is associated with increased copy number of mitochondrial DNA
por: Abu-Amero, Khaled. K., et al.
Publicado: (2014)

Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort
por: Azad, Taif A., et al.
Publicado: (2017)

Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening
por: Al-Sulaiman, Ayman, et al.
Publicado: (2015)

Association of increased levels of plasma tumor necrosis factor alpha with primary open-angle glaucoma
por: Kondkar, Altaf A, et al.
Publicado: (2018)

Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis
por: Mohamed, Sarar, et al.
Publicado: (2014)

A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report
por: Hellani, Ali, et al.
Publicado: (2009)

Elevated levels of plasma tumor necrosis factor alpha in patients with pseudoexfoliation glaucoma
por: Kondkar, Altaf A, et al.
Publicado: (2018)

Microdeletions and microduplications linked to severe congenital disorders in infertile men
por: Kikas, Triin, et al.
Publicado: (2023)

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
por: Mohammadzadeh, Akbar, et al.
Publicado: (2019)

Association of total antioxidants level with glaucoma type and severity
por: Mousa, Ahmed, et al.
Publicado: (2015)

Lack of Association between Variant rs7916697 in ATOH7 and Primary Open Angle Glaucoma in a Saudi Cohort
por: Kondkar, Altaf A., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ea81md0j791o4igoiuklt45ik9