Cargando…

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

Detalles Bibliográficos
Autores principales:	Al Alawi, Intisar, Al Salmi, Issa, Al Rahbi, Fatma, Al Riyami, Mohamed, Al Kalbani, Naifain, Al Ghaithi, Badria, Al Mawali, Adhra, Sayer, John A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Research Letter
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895654/ https://www.ncbi.nlm.nih.gov/pubmed/31844813 http://dx.doi.org/10.1016/j.ekir.2019.08.012

Ejemplares similares

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman
por: Al Alawi, Intisar, et al.
Publicado: (2020)

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases
por: Al Alawi, Intisar, et al.
Publicado: (2017)

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

Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome
por: Al Riyami, Mohamed S., et al.
Publicado: (2023)

Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome
por: Al Riyami, Mohamed S., et al.
Publicado: (2015)

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients
por: Al Alawi, Intisar, et al.
Publicado: (2021)

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
por: Al Alawi, Intisar, et al.
Publicado: (2021)

Thyroid Dysfunction and Kidney Dysfunction
por: Al Fahdi, Intisar, et al.
Publicado: (2022)

Neuroblastoma Among Omani Children: Clinical characteristics and survival outcome from a dedicated centre
por: Al-Battashi, Abeer, et al.
Publicado: (2021)

Commercial Kidney Transplantation: Attitude, Knowledge, Perception, and Experience of Recipients
por: Al Rahbi, Fatma, et al.
Publicado: (2017)

Comprehensive haematological indices reference intervals for a healthy Omani population: First comprehensive study in Gulf Cooperation Council (GCC) and Middle Eastern countries based on age, gender and ABO blood group comparison
por: Al-Mawali, Adhra, et al.
Publicado: (2018)

The Post-acute COVID-19 Syndrome (Long COVID)
por: Al-Jahdhami, Issa, et al.
Publicado: (2021)

Awareness of the Dangers of High Salt Intake among the Urban Omani Population
por: Al-Riyami, Hassan, et al.
Publicado: (2020)

Respiratory Complications after COVID-19
por: Al-Jahdhami, Issa, et al.
Publicado: (2022)

Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation
por: Al Oraimi, Sumaya, et al.
Publicado: (2022)

Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study
por: Al Oraimi, Sumaya, et al.
Publicado: (2022)

Understanding the Perceptions of Omani Women Regarding Life After a Breast Cancer Diagnosis
por: Al-Riyami, Asya, et al.
Publicado: (2020)

Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients
por: Al Adawi, Kawther, et al.
Publicado: (2023)

Prevalence of Diabetic Retinopathy in Oman: A Two Decade National Study
por: Al-Rashdi, Firas Ahmed, et al.
Publicado: (2021)

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)

The Unmet Supportive Care Needs of Omani Women Diagnosed with Breast Cancer
por: Al-Azri, Mohammed, et al.
Publicado: (2022)

Cervical Cancer-related Knowledge and Practice among Omani Women Attending a Family Medicine and Public Health Clinic
por: Al Kalbani, Raqiya, et al.
Publicado: (2022)

Clinicopathological Profile of Paroxysmal Nocturnal Hemoglobinuria among Omani Patients: A Case Series
por: Al-Riyami, Arwa Z., et al.
Publicado: (2022)

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

Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry
por: Al-Riyami, Sulaiman, et al.
Publicado: (2022)

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

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

Clinical and demographic profile of pediatric cataracts among Omani children presenting to a tertiary eye care center, Oman
por: Al-Riyami, Muzna, et al.
Publicado: (2023)

Immunoprofiling of leukemic stem cells CD34+/CD38−/CD123+ delineate FLT3/ITD-positive clones
por: Al-Mawali, Adhra, et al.
Publicado: (2016)

Letter in Reply: Can We Justify Cystic Fibrosis Mutational Analysis among Omani Neonates?
por: Al Balushi, Said, et al.
Publicado: (2022)

Exclusive Breastfeeding: Barrier analysis amongst Omani mothers
por: Al-Ghannami, Samia, et al.
Publicado: (2023)

Prevalence of Red Blood Cell Major Blood Group Antigens and Phenotypes among Omani Blood Donors
por: Al-Riyami, Arwa Z., et al.
Publicado: (2019)

Can We Justify Cystic Fibrosis Mutational Analysis among Omani Neonates?
por: Al-Mendalawi, Mahmood Dhahir
Publicado: (2022)

Chronic Q Fever Endocarditis in an Omani Child: The First Pediatric Case Report from Oman
por: Al-Araimi, Hanaa A., et al.
Publicado: (2020)

Mortality and complications in Omani patients with beta-thalassemia major: a long-term follow-up study
por: Daar, Shahina, et al.
Publicado: (2023)

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period
por: Bruwer, Zandré, et al.
Publicado: (2022)

The Prevalence of Substance Misuse and its Effects among Omani College Students: A Cross-sectional Study
por: Al-Hinaai, Hazaa, et al.
Publicado: (2021)

Prevalence and age-of-onset distributions of DSM IV mental disorders and their severity among school going Omani adolescents and youths: WMH-CIDI findings
por: Jaju, Sanjay, et al.
Publicado: (2009)

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

A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report
por: Al Balushi, Said, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_5ok2c6d8m0c45q55itk00j0see