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Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P,… See abstract for full author list ➔ Travaglini L, et al. Among authors: hurst j. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
1-year health outcomes associated with systemic corticosteroids for COVID-19: a longitudinal cohort study.
Leavy OC, Russell RJ, Harrison EM, Lone NI, Kerr S, Docherty AB, Sheikh A, Richardson M, Elneima O, Greening NJ, Harris VC, Houchen-Wolloff L, McAuley HJC, Saunders RM, Sereno M, Shikotra A, Singapuri A, Aul R, Beirne P, Bolton CE, Brown JS, Choudhury G, Diar Bakerly N, Easom N, Echevarria C, Fuld J, Hart N, Hurst JR, Jones M, Parekh D, Pfeffer P, Rahman NM, Rowland-Jones S, Shah AM, Wootton DG, Jolley C, Thompson AAR, Chalder T, Davies MJ, De Soyza A, Geddes JR, Greenhalf W, Heller S, Howard L, Jacob J, Jenkins RG, Lord JM, Man WD, McCann GP, Neubauer S, Openshaw PJM, Porter J, Rowland MJ, Scott JT, Semple MG, Singh SJ, Thomas D, Toshner M, Lewis K, Heaney LG, Briggs A, Zheng B, Thorpe M, Quint JK, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Wain LV, Brightling CE, Evans RA. Leavy OC, et al. Among authors: hurst jr. ERJ Open Res. 2024 Sep 30;10(5):00474-2024. doi: 10.1183/23120541.00474-2024. eCollection 2024 Sep. ERJ Open Res. 2024. PMID: 39351379 Free PMC article.
Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study.
Bintalib HM, Grigoriadou S, Patel SY, Mutlu L, Sooriyakumar K, Vaitla P, McDermott E, Drewe E, Steele C, Ahuja M, Garcez T, Gompels M, Grammatikos A, Herwadkar A, Ayub R, Halliday N, Burns SO, Hurst JR, Goddard S. Bintalib HM, et al. Among authors: hurst jr. Front Immunol. 2024 Sep 10;15:1451813. doi: 10.3389/fimmu.2024.1451813. eCollection 2024. Front Immunol. 2024. PMID: 39318627 Free PMC article.
1,458 results