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Page 1
Compound heterozygous ASPM mutations in Pakistani MCPH families.
Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW. Muhammad F, et al. Among authors: hansen l. Am J Med Genet A. 2009 May;149A(5):926-30. doi: 10.1002/ajmg.a.32749. Am J Med Genet A. 2009. PMID: 19353628
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Farooq M, et al. Among authors: hansen l. Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068592 Free PMC article.
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Farooq M, Lindbæk L, Krogh N, Doganli C, Keller C, Mönnich M, Gonçalves AB, Sakthivel S, Mang Y, Fatima A, Andersen VS, Hussain MS, Eiberg H, Hansen L, Kjaer KW, Gopalakrishnan J, Pedersen LB, Møllgård K, Nielsen H, Baig SM, Tommerup N, Christensen ST, Larsen LA. Farooq M, et al. Among authors: hansen l. Nat Commun. 2020 Nov 16;11(1):5816. doi: 10.1038/s41467-020-19658-0. Nat Commun. 2020. PMID: 33199730 Free PMC article.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hansen L, et al. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Am J Hum Genet. 2013. PMID: 23561846 Free PMC article.
3,326 results