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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. Simonis N, et al. Among authors: casimir g. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812909 Free PMC article.
Congenital hypothyroidism and cystic fibrosis.
Depasse C, Chanoine JP, Casimir G, Van Vliet G. Depasse C, et al. Among authors: casimir g. Acta Paediatr Scand. 1991 Oct;80(10):981-3. doi: 10.1111/j.1651-2227.1991.tb11768.x. Acta Paediatr Scand. 1991. PMID: 1755312
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G. Reggiani C, et al. Among authors: casimir g. Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y. Genome Med. 2017. PMID: 28724449 Free PMC article.
Illustration of tessellation in Down syndrome.
Postolache L, De Jong C, Casimir G. Postolache L, et al. Among authors: casimir g. Ophthalmic Genet. 2020 Apr;41(2):135-145. doi: 10.1080/13816810.2020.1744021. Epub 2020 Mar 23. Ophthalmic Genet. 2020. PMID: 32200669
Relationship between the presence of newborn and the house dust endotoxin.
Doyen V, Johansson AB, Hanssens L, Dehennin N, Dinh DH, Casimir G, Michel O. Doyen V, et al. Among authors: casimir g. Sci Total Environ. 2011 Nov 15;409(24):5313-7. doi: 10.1016/j.scitotenv.2011.09.026. Epub 2011 Oct 4. Sci Total Environ. 2011. PMID: 21975002
110 results