Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Intisar Al Alawi"'
Autor:
Intisar Al Alawi, Ehab Mohammed, Fatma Al Rahbi, AbdelMasieh Metry, Suad Hannawi, Issa Al Salmi
Publikováno v:
Oman Medical Journal, Vol 39, Iss 3, Pp e636-e636 (2024)
Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition characterized by the growth of multiple bilateral cysts in the kidneys. We describe the case of a 35-year-old male with combined ADPKD and type 1 diabetes mellitus w
Externí odkaz:
https://doaj.org/article/bf1c9462bca2443b9d71535ff760ae64
Autor:
Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John A. Sayer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (
Externí odkaz:
https://doaj.org/article/bc1175343931410fb57746ded5631b6d
Autor:
Maryam Al Battashi, Zahra Al Nadhairi, Ammar Al Riyami, Badria Al Gaithi, Anisa Al Maskari, Suliman Al Saidi, Naifain Al Kalbani, Intisar Al Alawi, Marwa Al Riyami, Naiema Al Alawi, Yahya Al Brashdi, Mohamed S. Al Riyami
Publikováno v:
Oman Medical Journal, Vol 38, Iss 3, Pp e503-e503 (2023)
Objectives: To determine the spectrum of kidney diseases in Omani children < 13 years of age and to evaluate the complications following kidney biopsy. Methods: This study retrospectively investigated the hospital data of children who underwent kidne
Externí odkaz:
https://doaj.org/article/f1f7ef8404454123b07f70d28768cdef
Autor:
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney a
Externí odkaz:
https://doaj.org/article/97a93a7855714234b80459c9c8ee8d5f
Autor:
Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, John A. Sayer
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts a
Externí odkaz:
https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d9
Autor:
Intisar Al Alawi, Mohammed Al Riyami, Miguel Barroso-Gil, Laura Powell, Eric Olinger, Issa Al Salmi, John A. Sayer
Publikováno v:
F1000Research, Vol 10 (2021)
Background: Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice. In the investigation of inherited cystic kidney disease and renal ciliopathy syndromes, WES has been extensively applied in research studies as wel
Externí odkaz:
https://doaj.org/article/6a1063e8832344a489be7e94d74c6e16
Publikováno v:
International Journal of Nephrology, Vol 2017 (2017)
Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic cause
Externí odkaz:
https://doaj.org/article/4717e12c461a4d82ad57941d020fd138
Autor:
Intisar Al Alawi, Maryam AlShehhi, Mohammed S Al Riyami, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer
Publikováno v:
Oman Medical Journal.
Autor:
Ian J. Wilson, Mohammed S. Al Riyami, Khawla A Rahim, Eric Olinger, Elisa Molinari, Laura Powell, Miguel Barroso-Gil, Abdulrahman Al-Hussaini, Naif A.M. Almontashiri, Shirlee Shril, John A. Sayer, Mohamed H Al-Hamed, Friedhelm Hildebrandt, Intisar Al Alawi, Colin G. Miles, Isa Al Salmi, Eissa Ali Faqeih
Publikováno v:
Hum Mutat
Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozy
Autor:
Maryam Al Battashi, Zahra Al Nadhairi, Ammar Al Riyami, Badria Al Gaithi, Anisa Al Maskari, Suliman Al Saidi, Naifain Al Kalbani, Intisar Al Alawi, Marwa Al Riyami, Naiema Al Alawi, Yahya Al Barashdi, Mohamed S Al Riyami
Publikováno v:
Oman Medical Journal.