Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa

Authors: Al-Ashwal, Abdullah, Alsagheir, Afaf, Al Dubayee, Mohammed, Al-Khnifsawi, Mutaz, Al-Sarraf, Ahmed, Awan, Zuhier, Ben-Omran, Tawfeg, Al-Yaarubi, Saif, Almutair, Angham, Habeb, Abdelhadi, Maatouk, Faouzi, Alshareef, Manal, Kholaif, Naji, Blom, Dirk

Source: In Journal of Clinical Lipidology March-April 2024 18(2):e132-e141

Graves' disease thyroid dermopathy: a case report.

Authors: Tashkandi, Loay¹ (AUTHOR), Alsagheir, Afaf² (AUTHOR) ASagheir@kfshrc.edu.sa, Alobaida, Saud³ (AUTHOR), Alhuthil, Raghad² (AUTHOR)

Source: Journal of Medical Case Reports. 4/7/2024, Vol. 18 Issue 1, p1-5. 5p.

Subject Terms: *THYROID diseases, *LYMPHATIC abnormalities, *THYROID cancer, *THYROID gland, *EXOPHTHALMOS, *GOITER

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Authors: Al Yaarubi, Saif¹ (AUTHOR) alyaarubica@gmail.com, Alsagheir, Afaf² (AUTHOR), Al Shidhani, Azza³ (AUTHOR), Alzelaye, Somaya⁴ (AUTHOR), Alghazir, Nadia⁵ (AUTHOR), Brema, Imad⁶ (AUTHOR), Alsaffar, Hussain³ (AUTHOR), Al Dubayee, Mohammed^7,8,9 (AUTHOR), Alshahrani, Awad^7,8,9 (AUTHOR), Abdelmeguid, Yasmine¹⁰ (AUTHOR), Omar, Omneya M.¹⁰ (AUTHOR), Attia, Najya¹¹ (AUTHOR), Al Amiri, Elham¹² (AUTHOR), Al Jubeh, Jamal¹³ (AUTHOR), Algethami, Albandari¹⁴ (AUTHOR), Alkhayyat, Haya¹⁵ (AUTHOR), Haleem, Azad¹⁶ (AUTHOR), Al Yahyaei, Mouza¹⁷ (AUTHOR), Khochtali, Ines¹⁸ (AUTHOR), Babli, Saleha¹⁹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/13/2024, Vol. 19 Issue 1, p1-15. 15p.

Subject Terms: *LIPODYSTROPHY, *GENETIC counseling, *ACANTHOSIS nigricans, *GENETIC disorder diagnosis, *GENETIC disorders, *CARDIAC patients, *ADIPOSE tissues, *ELECTROCONVULSIVE therapy

Geographic Terms: MIDDLE East, NORTH Africa

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

Authors: Al‐Hamed, Mohamed H., Qari, Alya, Alrayes, Lamya, Alotaibi, Mohammed, Al Masseri, Zainab, Alotaibi, Afaf, AlAshwal, Abdullah, AlHassnan, Zuhair N., Alsagheir, Afaf

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

Molecular genetics of disorders of sex development in a highly consanguineous population

Authors: Alswailem, Meshael, Alsagheir, Afaf, Abbas, Bassam Ben, Alzahrani, Ohoud, Alzahrani, Ali S. ^*

Source: In Journal of Steroid Biochemistry and Molecular Biology April 2021 208

Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.

Authors: Al-Ashwal, Abdullah, AlHelal, Manal, AlSagheir, Afaf, Alfattani, Areej, Ramzan, Khushnooda, Imtiaz, Faiqa, Alhuthil, Raghad

Source: Frontiers in Endocrinology; 2024, p1-7, 7p

Subject Terms: PATIENT compliance, SAUDI Arabians, SCIENTIFIC community, FENOFIBRATE, HYPERTRIGLYCERIDEMIA, NIACIN

Geographic Terms: SAUDI Arabia

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.

Authors: Mukhtar, Noha, Alghamdi, Balgees, Alswailem, Meshael, Alsagheir, Afaf, Alzahrani, Ali S.

Source: Frontiers in Endocrinology; 2024, p1-8, 8p

Subject Terms: GENETIC disorders, TERIPARATIDE, PARATHYROID hormone, HYPOPARATHYROIDISM, QUALITY of life, CALCITRIOL

The morbid genome of ciliopathies: an update

Authors: Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine June 2020 22(6):1051-1060

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Expanding the phenome and variome of skeletal dysplasia

Authors: Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2018 20(12):1609-1616

Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population

Authors: Alswailem, Meshael M., Alzahrani, Ohoud S., Alhomaidah, Doha S., Alasmari, Rahma, Qasem, Ebtesam, Murugan, Avaniyapuram Kannan, Alsagheir, Afaf, Brema, Imad, Abbas, Bassam Ben, Almehthel, Mohammed, Almeqbali, Ali, Alzahrani, Ali S.

Source: In Molecular and Cellular Endocrinology 5 February 2018 461:105-111

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

Authors: Alsagheir, Afaf, Al-Ashwal, Abdullah, Binladen, Amal, Alhuthil, Raghad, Joueidi, Faisal, Ramzan, Khushnooda, Imtiaz, Faiqa

Source: Frontiers in Endocrinology; 2024, p01-09, 9p

Subject Terms: VITAMIN D receptors, RICKETS, RECESSIVE genes, FAMILY history (Medicine), VITAMINS, GENETIC testing

Geographic Terms: SAUDI Arabia, RIYADH (Saudi Arabia)

Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population

Authors: Alswailem, Meshael M., Alzahrani, Ohoud S., Alghofaili, Lamyaa, Qasem, Ebtesam, Almohanaa, Mai, Alsagheir, Afaf, Bin Abbas, Bassam, Attia, Najya A., Al Shaikh, Adnan, Alzahrani, Ali S.

Source: Endocrine. 63(2):361-368

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128542733.0x000001&indx=1&recIds=ETOCvdc_100128542733.0x000001

Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice

Authors: Al Herbish, Abdullah S., Almutair, Angham, Bin Abbas, Bassam, Alsagheir, Afaf, Alqahtani, Mohammed, Kaplan, Walid, Deeb, Asma, El-Awwa, Ahmed, Al Khawari, Mona, Koledova, Ekaterina, Savage, Martin O.

Source: In International Journal of Pediatrics and Adolescent Medicine September 2016 3(3):91-102

Coexistence of endocrinopathies in children with rheumatic diseases

Authors: Alhomaidah, Doha, Alsagheir, Afaf, Al-Mayouf, Sulaiman M.

Source: In International Journal of Pediatrics and Adolescent Medicine September 2016 3(3):119-122

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Authors: Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.

Source: Genome biology. 21(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171989173.0x000001&indx=1&recIds=ETOCvdc_100171989173.0x000001

The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia.

Authors: Shafaay, Edi A., Aldriweesh, Mohammed A., Aljahdali, Ghadeer L., Babiker, Amir, Alomar, Abdulrahman O., Alharbi, Khulood M., Aldalaan, Haneen, Alenazi, Ahmed, Alangari, Abdulaziz S., Alsagheir, Afaf, Adriaansen, Bas P. H., Claahsen - van der Grinten, Hedi L., Al Alwan, Ibrahim

Source: Frontiers in Endocrinology; 2023, p1-9, 9p

Subject Terms: ADRENOGENITAL syndrome, QUALITY of life, LOGISTIC regression analysis, COMMUNITIES

Geographic Terms: MIDDLE East

Munchausen syndrome by proxy: a case report.

Authors: Alkhattabi, Fadiah, Bamogaddam, Israa, Alsagheir, Afaf, Al-Ashwal, Abdullah, Alhuthil, Raghad

Source: Journal of Medical Case Reports; 4/4/2023, Vol. 17 Issue 1, p1-5, 5p

Subject Terms: POSITRON emission tomography, CHILD welfare, HYPOGLYCEMIA

Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report

Authors: Abdelkarim, Mariam, Alageel, Dalal, Ahsan, Faridul, Alhuthil, Raghad, Alsarhani, Haifa, Alsagheir, Afaf

Source: In Bone Reports December 2023 19