Favorable Effects of Octreotide in Congenital Chloride Diarrhea Associated With CKD

Authors: Hussein, Maged H., Alsohaibani, Fahad, Alrubaysh, Abdulaziz, Al-Hamed, Mohamed H., Alabdaljabar, Mohamad S., Ullah, Asad

Source: Kidney international reports. 7(9):2112-2115

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169199721.0x000001&indx=1&recIds=ETOCvdc_100169199721.0x000001

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients

Authors: Al‐Hamed, Mohamed H., Hussein, Maged H., Shah, Yaser, Al‐Mojalli, Hamad, Alsabban, Essam, Alshareef, Turki, Altayyar, Ali, Elshouny, Samir, Ali, Wafaa, Abduljabbar, Mai, AlOtaibi, Afaf, AlShammasi, Amal, Akili, Rana, Abouelhoda, Mohamed, Sayer, John A., Dasouki, Majed J., Imtiaz, Faiqa

Source: Human mutation. 43(12):e24-e37

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168379671.0x000001&indx=1&recIds=ETOCvdc_100168379671.0x000001

A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis

Authors: Al‐Hamed, Mohamed H., Altuwaijri, Norah, Alsahan, Nada, Ali, Wafaa, Abdulwahab, Firdous, Alzahrani, Fatema, Majrashi, Nada, Alkuraya, Fowzan S.

Source: Clinical genetics. 102(1):61-65

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153643442.0x000001&indx=1&recIds=ETOCvdc_100153643442.0x000001

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Authors: Al‐Hamed, Mohamed H.^1,2 (AUTHOR) hamed@kfshrc.edu.sa, Qari, Alya^2,3 (AUTHOR), Alrayes, Lamya⁴ (AUTHOR), Alotaibi, Mohammed⁴ (AUTHOR), Al Masseri, Zainab⁵ (AUTHOR), Alotaibi, Afaf¹ (AUTHOR), AlAshwal, Abdullah^2,4 (AUTHOR), AlHassnan, Zuhair N.^2,3 (AUTHOR), Alsagheir, Afaf^2,4 (AUTHOR) asagheir@kfshrc.edu.sa

Source: Molecular Genetics & Genomic Medicine. Jan2025, Vol. 13 Issue 1, p1-10. 10p.

Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.

Authors: Al-Hamed, Mohamed H, Bakhamis, Sarah, Abdelfattah, Sara I, Alsagheir, Afaf

Source: Journal of the Endocrine Society; Jan2025, Vol. 9 Issue 1, p1-15, 15p

Subject Terms: GENETIC testing, GENETIC disorder diagnosis, SYMPTOMS, MEDICAL records, HYPOPHOSPHATEMIA

Geographic Terms: SAUDI Arabia

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Authors: Olinger, Eric, Alawi, Intisar Al, Al Riyami, Mohammed S., Salmi, Isa Al, Molinari, Elisa, Faqeih, Eissa Ali, Al‐Hamed, Mohamed H., Barroso‐Gil, Miguel, Powell, Laura, Al‐Hussaini, Abdulrahman A., Rahim, Khawla A., Almontashiri, Naif A. M., Miles, Colin, Shril, Shirlee, Hildebrandt, Friedhelm, Consortium, Genomics England Research, Wilson, Ian J., Sayer, John A.

Source: Human mutation. 42(10):1221-1228

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128936300.0x000001&indx=1&recIds=ETOCvdc_100128936300.0x000001

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

Authors: Almohlesy, Lama S., Imtiaz, Faiqa, Tulbah, Maha, Alhashem, Amal, Alhajooj, Manar, Alhashem, Abdullah, Mabillard, Holly, Sayer, John A., Alharbi, Khalid K., Al-Hamed, Mohamed H.

Source: Genes; Nov2024, Vol. 15 Issue 11, p1374, 9p

Subject Terms: SAUDI Arabians, POLYCYSTIC kidney disease, KIDNEY development, KIDNEY failure, ULTRASONIC imaging, FETAL ultrasonic imaging, FETUS

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

Authors: Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.

Source: American journal of human genetics. 107(6):1178-1185

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115514286.0x000001&indx=1&recIds=ETOCvdc_100115514286.0x000001

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

Authors: 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., Al Mutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen

Source: In Molecular Genetics and Metabolism Reports March 2019 18:22-29

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

Authors: Al-Hamed, Mohamed H., Alsahan, Nada, Rice, Sarah J., Edwards, Noel, Nooreddeen, Eman, Alotaibi, Maha, Kurdi, Wesam, Alnemer, Maha, Altaleb, Naderah, Ali, Wafa, Al-Numair, Nouf, Almejaish, Najd, Sayer, John A., Imtiaz, Faiqa

Source: Pediatric nephrology. 34(9):1615-1623

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313084.0x000001&indx=1&recIds=ETOCvdc_100125313084.0x000001

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

Authors: 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

Source: In Molecular Genetics and Metabolism Reports June 2017 11:17-23

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

Authors: Abou Al-Shaar, Hussam, Qadi, Najeeb, Al-Hamed, Mohamed H., Meyer, Brian F., Bohlega, Saeed

Source: In Journal of the Neurological Sciences 15 August 2016 367:239-243

Molecular characterization of novel splice site mutation causing protein C deficiency

Authors: Al-Hamed, Mohamed H., AlBatniji, Fatma, AlDakheel, Ghadah A., El-Faraidi, Huda, Al-Zahrani, Azzah, Al-Abbass, Fahed, Imtiaz, Faiqa

Source: Blood coagulation and fibrinolysis. 27(5):585-588

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100034041936.0x000001&indx=1&recIds=ETOCvdc_100034041936.0x000001

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.

Authors: Sheikh, Farrukh, Alajlan, Huda, Albanyan, Maram, Alruwaili, Hibah, Alawami, Fatimah, Sumayli, Safia, Al Gazlan, Sulaiman, Abu Awwad, Sawsan, Al-Dhekri, Hasan, Al-Saud, Bandar, Arnaout, Rand, Alrayes, Hassan, Sayes, Najla, Al-Hamed, Mohamed H., Al-Mousa, Hamoud, AlShareef, Saad, Alazami, Anas M.

Source: Journal of Clinical Immunology; Feb2023, Vol. 43 Issue 2, p479-484, 6p

Subject Terms: ANGIONEUROTIC edema, GENOTYPES, COMPLEMENT inhibition, PHENOTYPES, GASTROINTESTINAL system

Geographic Terms: SAUDI Arabia

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

Authors: Al-Hamed, Mohamed H.^1,2 (AUTHOR), Sayer, John A.^3,4 (AUTHOR), Alsahan, Nada⁵ (AUTHOR), Edwards, Noel³ (AUTHOR), Ali, Wafaa¹ (AUTHOR), Tulbah, Maha⁵ (AUTHOR), Imtiaz, Faiqa¹ (AUTHOR) fahmad@kfshrc.edu.sa

Source: Genes. Oct2022, Vol. 13 Issue 10, pN.PAG-N.PAG. 8p.

Subject Terms: *MISSENSE mutation, *URINARY organs, *DYSPLASIA, *HUMAN abnormalities, *CONGENITAL disorders, *KIDNEY development

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Authors: Al-Hamed, Mohamed H.^1,2 (AUTHOR) Hamed@kfshrc.edu.sa, Kurdi, Wesam³ (AUTHOR), Khan, Rubina³ (AUTHOR), Tulbah, Maha³ (AUTHOR), AlNemer, Maha³ (AUTHOR), AlSahan, Nada³ (AUTHOR), AlMugbel, Maisoon³ (AUTHOR), Rafiullah, Rafiullah² (AUTHOR), Assoum, Mirna² (AUTHOR), Monies, Dorota¹ (AUTHOR), Shah, Zeeshan¹ (AUTHOR), Rahbeeni, Zuhair⁴ (AUTHOR), Derar, Nada⁴ (AUTHOR), Hakami, Fahad⁵ (AUTHOR), Almutairi, Gawaher³ (AUTHOR), AlOtaibi, Afaf² (AUTHOR), Ali, Wafaa² (AUTHOR), AlShammasi, Amal² (AUTHOR), AlMubarak, Wardah³ (AUTHOR), AlDawoud, Samia³ (AUTHOR)

Source: Human Genetics. Jan2022, Vol. 141 Issue 1, p101-126. 26p.

Subject Terms: *FETAL abnormalities, *CILIOPATHY, *CONSANGUINITY, *PRENATAL genetic testing, *EXOMES, *MOLECULAR diagnosis, *PHENOTYPES

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

Authors: Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ambusaidi, Qamariya, Ali, Wafaa, Imtiaz, Faiqa

Source: Journal of Nephrology (JNonline); Jun2021, Vol. 34 Issue 3, p893-900, 8p

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Authors: Al-Hamed, Mohamed H¹, Al-Sabban, Essam², Al-Mojalli, Hamad², Al-Harbi, Naffaa², Faqeih, Eissa³, Al Shaya, Hammad³, Alhasan, Khalid⁴, Al-Hissi, Safaa⁵, Rajab, Mohamed⁵, Edwards, Noel⁶, Al-Abbad, Abbas², Al-Hassoun, Ibrahim², Sayer, John A⁶, Meyer, Brian F⁵

Source: Journal of Human Genetics. Jul2013, Vol. 58 Issue 7, p480-489. 10p. 1 Diagram, 5 Charts, 2 Graphs.

Subject Terms: *MOLECULAR genetics, *NEPHROTIC syndrome in children, *COHORT analysis, *KIDNEY diseases, *HYPERLIPIDEMIA, *GENETIC mutation

Novel loss of function variants in FRAS1AND FREM2underlie renal agenesis in consanguineous families

Authors: Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ambusaidi, Qamariya, Ali, Wafaa, Imtiaz, Faiqa

Source: Journal of Nephrology; June 2021, Vol. 34 Issue: 3 p893-900, 8p

Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.

Authors: Al-Hamed, Mohamed H¹ (AUTHOR) Hamed@kfshrc.edu.sa, Alzaidan, Hamad² (AUTHOR), Hussein, Maged³ (AUTHOR), Albaik, Lina¹ (AUTHOR), Qari, Alya² (AUTHOR), Sayer, John A^4,5 (AUTHOR), Imtiaz, Faiqa¹ (AUTHOR)

Source: Clinical Kidney Journal. Feb2021, Vol. 14 Issue 2, p728-730. 3p.

Subject Terms: *FAMILIES