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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: collins f. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. El Hokayem J, et al. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. J Med Genet. 2012. PMID: 22499340
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
Cavalcanti DP, Huber C, Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V. Cavalcanti DP, et al. Among authors: collins f. J Med Genet. 2011 Feb;48(2):88-92. doi: 10.1136/jmg.2009.069468. Epub 2009 Jul 30. J Med Genet. 2011. PMID: 19648123
General population screening for cystic fibrosis is premature.
Biesecker L, Bowles-Biesecker B, Collins F, Kaback M, Wilfond B. Biesecker L, et al. Among authors: collins f. Am J Hum Genet. 1992 Feb;50(2):438-9. Am J Hum Genet. 1992. PMID: 1734723 Free PMC article. No abstract available.
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, Cimbalistiene L, Collins F, Chopra M, Al-Sinani S, Dastmalchian S, de Silva DC, Bakhti H, Garg A, Hilbert P. Haghighi A, et al. Among authors: collins f. Clin Genet. 2016 Apr;89(4):434-441. doi: 10.1111/cge.12623. Epub 2015 Jul 20. Clin Genet. 2016. PMID: 26072926 Free PMC article.
Global Elimination of Hepatitis C Virus.
Fleurence RL, Alter HJ, Collins FS, Ward JW. Fleurence RL, et al. Among authors: collins fs. Annu Rev Med. 2024 Nov 1. doi: 10.1146/annurev-med-050223-111239. Online ahead of print. Annu Rev Med. 2024. PMID: 39485830 Review.
Correction: Fast and robust single PCR for Plasmodium sporozoite detection in mosquitoes using the cytochrome oxidase I gene.
Echeverry DF, Deason NA, Makuru V, Davidson J, Xiao H, Niedbalski J, Yu X, Stevenson JC, Bugoro H, Aparaimo A, Reuben H, Cooper R, Burkot TR, Russell TL, Collins FH, Lobo NF. Echeverry DF, et al. Among authors: collins fh. Malar J. 2024 Oct 18;23(1):313. doi: 10.1186/s12936-024-05110-x. Malar J. 2024. PMID: 39425186 Free PMC article. No abstract available.
1,665 results