Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 214 Records) |
Query Trace: Consanguinity[original query] |
---|
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients. Human mutation 2022 9 43 (12): e24-e37. 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 Fai |
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population. BMC genomic data 2022 9 23 (1): 73. Mezzavilla Massimo, Cocca Massimiliano, Maisano Delser Pierpaolo, Badii Ramin, Abbaszadeh Fatemeh, Hadi Khalid Abdul, Giorgia Girotto, Gasparini Pao |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort. Frontiers in genetics 2022 9 13 900574. Zidoune Housna, Ladjouze Asmahane, Chellat-Rezgoune Djalila, Boukri Asma, Dib Scheher Aman, Nouri Nassim, Tebibel Meryem, Sifi Karima, Abadi Noureddine, Satta Dalila, Benelmadani Yasmina, Bignon-Topalovic Joelle, El-Zaiat-Munsch Maeva, Bashamboo Anu, McElreavey K |
Hereditary Hyperekplexia in Saudi Arabia. Pediatric neurology 2022 7 134 78-82. Aldhilan Amal, Alhakeem Afnan, Al Hajjaj Sumayah, Abukhalid Musaad, Aldhalaan Hisham, Salah Ehab, Saeed Muhammed, Tabassum Sadia, El Khashab Heba Y, Aljabri Mohammed, Ali El-Sayed, Alwadei Ali, Hundallah Khalid, Alghamdi Abdulaziz, Hakami Wejdan, AlShafi Shatha, Alkuraya Fowzan S, Alanazy Naif, Seidahmed Mohammed Zain, Alfadhel Majid, Tabarki Brah |
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders. PloS one 2022 7 17 (7): e0270373. Kumar Tejashwini Vittal, Bhat Meenakshi, Narayanachar Sanjeeva Ghanti, Narayan Vinu, Srikanth Ambika K, Anikar Swathi, Shetty Swat |
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci. Human genomics 2022 12 16 (1): 71. Al Anazi Abdulrahman H, Ammar Ahmed S, Al-Hajj Mahmoud, Cyrus Cyril, Aljaafari Danah, Khoda Iname, Abdelfatah Ahmed K, Alsulaiman Abdullah A, Alanazi Firas, Alanazi Rawan, Gandla Divya, Lad Hetal, Barayan Samar, Keating Brendan J, Al-Ali Amein |
Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity. iScience 2022 11 25 (11): 105336. Ferreira Joana C, Alshamali Farida, Pereira Luisa, Fernandes Veroni |
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 11 44 (3): 947-959. Fereshtehnejad Seyed-Mohammad, Saleh Philip A, Oliveira Lais M, Patel Neha, Bhowmick Suvorit, Saranza Gerard, Kalia Lorraine |
Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation. Scientific reports 2022 Oct 12 (1): 16984. Everest Elif, Ahangari Mohammad, Uygunoglu Ugur, Tutuncu Melih, Bulbul Alper, Saip Sabahattin, Duman Taskin, Sezerman Ugur, Reich Daniel S, Riley Brien P, Siva Aksel, Tahir Turanli E |
Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects. Pakistan journal of medical sciences 2023 9 39 (5): 1456-1461. Hammael Naseer, Amir Rashid, Asifa Majeed, Zunaira Ali Ba |
Genotyping and population characteristics of the China Kadoorie Biobank. Cell genomics 2023 8 3 (8): 100361. Robin G Walters, Iona Y Millwood, Kuang Lin, Dan Schmidt Valle, Pandora McDonnell, Alex Hacker, Daniel Avery, Ahmed Edris, Hannah Fry, Na Cai, Warren W Kretzschmar, M Azim Ansari, Paul A Lyons, Rory Collins, Peter Donnelly, Michael Hill, Richard Peto, Hongbing Shen, Xin Jin, Chao Nie, Xun Xu, Yu Guo, Canqing Yu, Jun Lv, Robert J Clarke, Liming Li, Zhengming Chen, |
Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders. Frontiers in pediatrics 2023 7 11 1211254. Ayca Ceylan, Ilyas Emre Tekdemir, Nadir Kocak, Ivan Kingyue Chinn, Jordan Scott Orange, Hasibe Art |
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. European heart journal 2023 7 . Mona Allouba, Roddy Walsh, Alaa Afify, Mohammed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis I Theotokis, Ahmed Boraey, Amany Ellithy, Rachel Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James S Ware, Paul J R Barton, Magdi Yacoub, Yasmine Agu |
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method. Global medical genetics 2023 6 10 (2): 117-122. Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurk |
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent. European journal of medical genetics 2023 4 104766. Sweta Das, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Anitha M Barney, Suneetha Susan Cleave A, Atanu Kumar Dutta, Rekha A, Sony Mohan, Sumita Dan |
?- and ?-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh. Hemoglobin 2023 3 1-8. Kabir Tamanna, Anwar Saeed, Mourosi Jarin Taslem, Akter Shanjida, Hosen Mohammad Jak |
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023 2 . Reznick Levi Gili, Goldberg Yael, Segev Hanna, Maza Itay, Gorelik Yuri, Laish Ido, Levi Zohar, Kedar Inbal, Naftali Nathan Sonia, Sharon Swartzman Nitzan, Abu Freha Naim, Paritsky Maya, Rennert Gad, Baris Feldman Hagit, Paperna Tamar, Weiss Karin, Half Elizabeth |
Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts. Scientific reports 2023 12 13 (1): 21866. Amein K Al-Ali, Abdullah M Al-Rubaish, Rudaynah A Alali, Mohammed S Almansori, Mohammed A Al-Jumaan, Abdullah M Alshehri, Mohammed S Al-Madan, ChittiBabu Vatte, Tess Cherlin, Sylvia Young, Shefali S Verma, Grant Morahan, Bobby P C Koeleman, Brendan J Keati |
ONECUT1 variants beyond type 1 and type 2 diabetes: exploring clinical diversity and epigenetic associations in Arab cohorts. Frontiers in genetics 2023 11 14 1254833. Mohammed Dashti, Rasheeba Nizam, Sumi Elsa John, Motasem Melhem, Arshad Channanath, Hessa Alkandari, Thangavel Alphonse Thanaraj, Fahd Al-Mul |
Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study. Mediterranean journal of rheumatology 2023 11 34 (3): 332-341. Oadi N Shrateh, Mariam Thalji, Afnan W M Jobran, Aml M Brakat, Abdelrahman M Attia, Fawzy M Abunej |
Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients. Cureus 2023 11 15 (11): e48564. Asaf Syed, Anurag Rawat, Umer Bin Tariq, Ihteshamul Haq, Beenish Naz, Abrar Hussain, Mehdi Maqsood, Arsalan Rashe |
Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 1 . Gopinath Chitra, Rompicherla Ramya, Mathias Grace Priyaranjini, Patil Rajeshwari, Poornachandra B, Vinekar Anand, Mochi Thirumalesh B, Braganza Sherine, Shetty K Bhujang, Kumaramanickavel Govindasamy, Ghosh Anupri |
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain. Molecular genetics and genomics : MGG 2024 5 299 (1): 52. Osama A Karim Majed, Fatema Osama Majed, Nabeel Jasim Almoamen, Husain Baqer Alsatrawi, Salma Dawood Shehabi, Jana Hrbková, Malgorzata Libik, Milan Mac |
Phenotype and molecular characterization of Wilson's disease in Morocco. Clinics and research in hepatology and gastroenterology 2024 4 102335. Nadia Abbassi, Aicha Bourrahouat, Eduardo Couchonnal Bedoya, Cécile Pagan, Meriem El Qabli, Sana Maidoumi, Abdelouahed Belmalih, Olivier Guillaud, Najib Kissani, Abdelhak Abkari, Imane Chahid, Mohammed Abdoh Rafai, Nezha Mouane, Yamna Kriouile, Saadia Aidi, Moustpha Hida, Mounia Lakhdar Idrissi, Mohammed Faouzi Belahsen, Mohammed El Abkari, Maria Rkain, Zahi Ismaili, Azeddine Sedki, Muriel Bost, Nisrine Aboussair, Alain Lacha |
Burden of Mendelian disorders in a large Middle Eastern biobank. Genome medicine 2024 4 16 (1): 46. Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, , Younes Mokrab, Khalid A Fakh |
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent. The Journal of molecular diagnostics : JMD 2024 4 . Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darvishi, Amar Chand Bhayal, Lavanya Katikala, Fen Guo, Xiangwen Chen-Deutsch, Jorune Balciuniene, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Lora Bean, Christin Collins, Madhuri Heg |
Molecular and clinical profile of rare bleeding disorders: A single-center retrospective study. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2024 4 103921. Arash Ahmadfard Moghadam, Amir Reza Manafzadeh, Mohammad Reza Nikoonia, Khadijeh Dajliry, Farahnaz Ramezan, Shadi Tabibi |
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel. European journal of haematology 2024 4 . Lital Yeshareem, Joanne Yacobovich, Asaf Lebel, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Galit Berger Pinto, Nino Oniashvili, Jacques Mardoukh, Bella Bielorai, Ruth Laor, Noa Mandel-Shorer, Ayelet Ben Barak, Carina Levin, Mahdi Asleh, Hagit Miskin, Shoshana Revel-Vilk, Dror Levin, Marganit Benish, Tsila Zuckerman, Ofir Wolach, Idit Pazgal, Dafna Brik Simon, Oded Gilad, Asaf David Yanir, Tracie Alison Goldberg, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shem |
[Molecular biology analysis of 2 rare RhD variant individuals with RHD*DEL37]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2024 4 56 (2): 352-356. Peng Wang, Ziyao Yang, Meng Wang, Wei Wang, Aizhi |
Blood donor biobank as a resource in personalised biomedical genetic research. European journal of human genetics : EJHG 2024 1 . Jonna Clancy, Jarmo Ritari, Eevaleena Vaittinen, Mikko Arvas, Silja Tammi, , Satu Koskela, Jukka Partan |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 28, 2024
- Content source: