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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: armengot m. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
SEAIC-SEORL. Consensus Document on Nasal Polyposis. POLINA Project.
Alobid I, Antón E, Armengot M, Chao J, Colás C, del Cuvillo A, Dávila I, Dordal MT, Escobar C, Fernández-Parra B, Gras-Cabrerizo JR, Ibáñez MD, Lluch M, Matéu V, Montoro J, Gili JR, Mullol J, Navarro AM, Pumarola F, Rondón C, Sánchez-Hernández MC, Sarandeses A, Soler R, Valero AL; Rhinoconjunctivitis Committee; Spanish Society of Allergy and Clinical Immunology; Rhinology and Allergy Commission; Spanish Society of Otorhinolaryngology. Alobid I, et al. Among authors: armengot m. J Investig Allergol Clin Immunol. 2011;21 Suppl 1:1-58. J Investig Allergol Clin Immunol. 2011. PMID: 21714471 Free article. No abstract available.
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE. Blouin JL, et al. Among authors: armengot m. Eur J Hum Genet. 2000 Feb;8(2):109-18. doi: 10.1038/sj.ejhg.5200429. Eur J Hum Genet. 2000. PMID: 10757642
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE. Bartoloni L, et al. Among authors: armengot m. Genomics. 2001 Feb 15;72(1):21-33. doi: 10.1006/geno.2000.6462. Genomics. 2001. PMID: 11247663
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Bartoloni L, et al. Among authors: armengot m. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. doi: 10.1073/pnas.152337699. Epub 2002 Jul 25. Proc Natl Acad Sci U S A. 2002. PMID: 12142464 Free PMC article.
125 results