Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1986 2
1987 2
1988 2
1989 2
1990 1
1991 4
1992 1
1993 6
1994 1
1995 3
1996 4
1997 4
1998 3
1999 3
2000 3
2001 4
2002 6
2003 4
2004 4
2005 4
2006 10
2007 5
2008 6
2009 10
2010 3
2011 3
2012 8
2013 9
2014 6
2015 10
2016 6
2017 9
2018 6
2019 6
2020 7
2021 3
Text availability
Article attribute
Article type
Publication date

Search Results

153 results
Results by year
Filters applied: . Clear all
Page 1
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poirée M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschké P, Bôle-Feysot C, de Villartay JP, Bellanné-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P. Tan S, et al. Among authors: de villartay jp. Blood. 2019 Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. Epub 2019 May 31. Blood. 2019. PMID: 31151987 Free PMC article.
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium, Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: de villartay jp. JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. JCI Insight. 2020. PMID: 32161190 Free PMC article.
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. Okada S, et al. Among authors: de villartay jp. Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9. Science. 2015. PMID: 26160376 Free PMC article.
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E. Cottineau J, et al. Among authors: de villartay jp. J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17. J Clin Invest. 2017. PMID: 28414293 Free PMC article.
Congenital defects in V(D)J recombination.
de Villartay JP. de Villartay JP. Br Med Bull. 2015 Jun;114(1):157-67. doi: 10.1093/bmb/ldv020. Epub 2015 May 17. Br Med Bull. 2015. PMID: 25987660 Review.
V(D)J recombination deficiencies.
de Villartay JP. de Villartay JP. Adv Exp Med Biol. 2009;650:46-58. doi: 10.1007/978-1-4419-0296-2_4. Adv Exp Med Biol. 2009. PMID: 19731800 Review.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. Among authors: de villartay jp. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P. Benyelles M, et al. Among authors: de villartay jp. EMBO Mol Med. 2019 Jul;11(7):e10201. doi: 10.15252/emmm.201810201. Epub 2019 Jun 6. EMBO Mol Med. 2019. PMID: 31273937 Free PMC article.
153 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page