Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Autosomal Recessive Primary Microcephaly[original query] |
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Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort. NeuroImage 2007 Aug 37 (2): 394-400. Dobson-Stone C, Gatt J M, Kuan S A, Grieve S M, Gordon E, Williams L M, Schofield P |
The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. American journal of medical genetics. Part A 2009 Feb 149A (4): 622-5. Maghirang-Rodriguez Reycel, Archie John G, Schwartz Charles E, Collins Julianne |
Molecular genetics of human primary microcephaly: an overview. BMC medical genomics 2015 8 Suppl 1 S4. Faheem Muhammad, Naseer Muhammad Imran, Rasool Mahmood, Chaudhary Adeel G, Kumosani Taha A, Ilyas Asad Muhammad, Pushparaj Peter, Ahmed Farid, Algahtani Hussain A, Al-Qahtani Mohammad H, Saleh Jamal Has |
Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population. Frontiers in pediatrics 2021 7 9 695133. Khan Niaz Muhammad, Hussain Basharat, Zheng Chenqing, Khan Ayaz, Masoud Muhammad Shareef, Gu Qingquan, Qiu Linhui, Malik Naveed Altaf, Qasim Muhammad, Tariq Muhammad, Chang Junl |
Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study. Molecular biology reports 2023 8 . Komal Aslam, Iram Anjum, Kanwal Aslam, Rukhama Haq, Rasheeda Bash |
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