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Items: 18

1.

Physical inactivity and knee osteoarthritis in guinea pigs.

Wallace IJ, Bendele AM, Riew G, Frank EH, Hung HH, Holowka NB, Bolze AS, Venable EM, Yegian AK, Dingwall HL, Carmody RN, Grodzinsky AJ, Lieberman DE.

Osteoarthritis Cartilage. 2019 Nov;27(11):1721-1728. doi: 10.1016/j.joca.2019.07.005. Epub 2019 Jul 11.

PMID:
31302235
2.

Students Teaching Students: Bringing Lifestyle Medicine Education to Middle and High Schools Through Student-Led Community Outreach Programs.

Wolferz R Jr, Arjani S, Bolze A, Frates EP.

Am J Lifestyle Med. 2019 Mar 24;13(4):371-373. doi: 10.1177/1559827619836970. eCollection 2019 Jul-Aug.

PMID:
31285720
3.

Insights From a Short-Term Protein-Calorie Restriction Exploratory Trial in Elective Carotid Endarterectomy Patients.

Kip P, Trocha KM, Tao M, O'leary JJ, Ruske J, Giulietti JM, Trevino-Villareal JH, MacArthur MR, Bolze A, Burak MF, Patterson S, Ho KJ, Carmody RN, Guzman RJ, Mitchell JR, Ozaki CK.

Vasc Endovascular Surg. 2019 Aug;53(6):470-476. doi: 10.1177/1538574419856453. Epub 2019 Jun 19.

PMID:
31216949
4.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y.

Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):950-959. doi: 10.1073/pnas.1808403116. Epub 2018 Dec 27.

5.

A 44-Year-Old Female With Overwhelming Sepsis.

Seligman SJ, Bolze A, Boisson B, Casanova JL.

Clin Infect Dis. 2019 Feb 1;68(4):712. doi: 10.1093/cid/ciy742. No abstract available.

6.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

7.

Exome and genome sequencing for inborn errors of immunity.

Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, Pedergnana V, Moens L, Picard C, Cobat A, Bossuyt X, Abel L, Casanova JL.

J Allergy Clin Immunol. 2016 Oct;138(4):957-969. doi: 10.1016/j.jaci.2016.08.003. Review.

8.

The human gene damage index as a gene-level approach to prioritizing exome variants.

Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19.

9.

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Abel L, Bustamante J, Casanova JL, Puel A.

J Exp Med. 2015 May 4;212(5):619-31. doi: 10.1084/jem.20141065. Epub 2015 Apr 27.

10.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8. doi: 10.1073/pnas.1418631112. Epub 2015 Mar 31.

11.

[Connecting isolated congenital asplenia to the ribosome].

Bolze A.

Biol Aujourdhui. 2014;208(4):289-98. doi: 10.1051/jbio/2015001. Epub 2015 Apr 3. Review. French.

PMID:
25840456
12.

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL.

Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.

13.

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.

Koss M, Bolze A, Brendolan A, Saggese M, Capellini TD, Bojilova E, Boisson B, Prall OW, Elliott DA, Solloway M, Lenti E, Hidaka C, Chang CP, Mahlaoui N, Harvey RP, Casanova JL, Selleri L.

Dev Cell. 2012 May 15;22(5):913-26. doi: 10.1016/j.devcel.2012.02.009. Epub 2012 May 3.

14.

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL.

PLoS One. 2012;7(1):e29708. doi: 10.1371/journal.pone.0029708. Epub 2012 Jan 4.

15.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL.

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

16.

Whole-exome-sequencing-based discovery of human FADD deficiency.

Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL.

Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25.

17.

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.

Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tournilhac O, Gilbert-Dussardier B, Pautard B, Durand P, Devictor D, Lachassinne E, Guillois B, Morin M, Gouraud F, Valensi F, Fischer A, Puel A, Abel L, Bonnet D, Casanova JL.

J Pediatr. 2011 Jan;158(1):142-8, 148.e1. doi: 10.1016/j.jpeds.2010.07.027. Epub 2010 Sep 16.

PMID:
20846672
18.

Inflammatory tumour microenvironment is associated with superior survival in hepatocellular carcinoma patients.

Chew V, Tow C, Teo M, Wong HL, Chan J, Gehring A, Loh M, Bolze A, Quek R, Lee VK, Lee KH, Abastado JP, Toh HC, Nardin A.

J Hepatol. 2010 Mar;52(3):370-9. doi: 10.1016/j.jhep.2009.07.013. Epub 2009 Aug 3.

PMID:
19720422

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