Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

por Alsmadi, Osama A, Al-Kayal, Fadi, Al-Hamed, Mohamed, Meyer, Brian F
Publicado 2006

Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients

por Adi, Ahmad, Bin Abbas, Bassam, Al Hamed, Mohamed, Al Tassan, Nada, Bakheet, Dana
Publicado 2015

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

por Al-Hamed, Mohamed, Sayer, John A., Al-Hassoun, Ibrahim, Aldahmesh, Mohamed A., Meyer, Brian
Publicado 2010

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family

por Al-Hamed, Mohamed H., Kurdi, Wesam, Alsahan, Nada, Ambosaidi, Qaamariya, Tulbah, Maha, Sayer, John A.
Publicado 2016

Favorable Effects of Octreotide in Congenital Chloride Diarrhea Associated With CKD

por Hussein, Maged H., Alsohaibani, Fahad, Alrubaysh, Abdulaziz, Al-Hamed, Mohamed H., Alabdaljabar, Mohamad S., Ullah, Asad
Publicado 2022

Novel pathogenic MAPKBP1 variant in a family with nephronophthisis

por Al-Hamed, Mohamed H, Alzaidan, Hamad, Hussein, Maged, Albaik, Lina, Qari, Alya, Sayer, John A, Imtiaz, Faiqa
Publicado 2020

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract

por Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa
Publicado 2022

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

por Al-Hamed, Mohamed H., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ali, Wafa’a I., Sayer, John A., Imtiaz, Faiqa
Publicado 2020

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family

por Haghighi, Alireza, Al-Hamed, Mohamed, Al-Hissi, Safa, Hynes, Ann-Marie, Sharifian, Maryam, Roozbeh, Jamshid, Saleh-Gohari, Nasrollah, Sayer, John A.
Publicado 2011

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity

por Srivastava, Shalabh, Li, Dimin, Edwards, Noel, Hynes, Ann-M, Wood, Katrina, Al-Hamed, Mohamed, Wroe, Anna C, Reaich, David, Moochhala, Shabbir H, Welling, Paul A, Sayer, John A
Publicado 2013

Functional modelling of a novel mutation in BBS5

por Al-Hamed, Mohamed H, van Lennep, Charles, Hynes, Ann Marie, Chrystal, Paul, Eley, Lorraine, Al-Fadhly, Fatimah, El Sayed, Riham, Simms, Roslyn J, Meyer, Brian, Sayer, John A
Publicado 2014

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

por Edwards, Noel, Rice, Sarah J., Raman, Shreya, Hynes, Ann Marie, Srivastava, Shalabh, Moore, Iain, Al-Hamed, Mohamed, Xu, Yaobo, Santibanez-Koref, Mauro, Thwaites, David T., Gale, Daniel P., Sayer, John A.
Publicado 2015

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

por Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen
Publicado 2019

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

por Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen
Publicado 2017

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

por Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Alabdullah, Zainab, Abudraz, Rania, Tulbah, Maha, Alnemer, Maha, Khan, Rubina, Al-Jurayb, Haya, Alahmed, Ahmed, Tahir, Asma I, Khalil, Dania, Edwards, Noel, Al Abdulaziz, Basma, Binhumaid, Faisal S, Majid, Salma, Faquih, Tariq, El-Kalioby, Mohamed, Abouelhoda, Mohamed, Altassan, Nada, Monies, Dorota, Meyer, Brian, Sayer, John A, Albaqumi, Mamdouh
Publicado 2016