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Items: 1 to 50 of 595

1.

An Overlooked Brain Region in the Aetiology of Anorexia Nervosa: The Importance of Behaviourally Driven Neuroimaging Analysis.

Phillipou A, Castle DJ, Abel LA, Gurvich C, Rossell SL.

J Exp Neurosci. 2018 Dec 20;12:1179069518820068. doi: 10.1177/1179069518820068. eCollection 2018.

2.

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.

PMID:
30591557
3.

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau8714. doi: 10.1126/sciimmunol.aau8714.

PMID:
30578352
4.

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau6759. doi: 10.1126/sciimmunol.aau6759.

PMID:
30578351
5.

Use of Decision Modelling in Economic Evaluations of Diagnostic Tests: An Appraisal and Review of Health Technology Assessments in the UK.

Yang Y, Abel L, Buchanan J, Fanshawe T, Shinkins B.

Pharmacoecon Open. 2018 Dec 14. doi: 10.1007/s41669-018-0109-9. [Epub ahead of print] Review.

6.

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Zhang P, Bigio B, Rapaport F, Zhang SY, Casanova JL, Abel L, Boisson B, Itan Y.

Bioinformatics. 2018 Dec 15;34(24):4307-4309. doi: 10.1093/bioinformatics/bty536.

PMID:
30535305
7.

Midbrain dysfunction in anorexia nervosa.

Phillipou A, Abel LA, Castle DJ, Gurvich C, Hughes ME, Rossell SL.

Psychiatry Res Neuroimaging. 2019 Jan 30;283:154-155. doi: 10.1016/j.pscychresns.2018.11.004. Epub 2018 Nov 6. No abstract available.

PMID:
30446356
8.

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T.

J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18.

9.

HCV-Associated Liver Fibrosis and HSD17B13.

About F, Abel L, Cobat A.

N Engl J Med. 2018 Nov 8;379(19):1875-1876. doi: 10.1056/NEJMc1804638. No abstract available.

PMID:
30403944
10.

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J.

Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. No abstract available.

11.

Influence of apheresis collection device and container on the storage properties of platelets in 90% PAS-5/10% plasma.

Wagner SJ, Hapip CA, Turgeon A, Abel L, Kaelber N.

Blood Transfus. 2018 Sep 5:1-7. doi: 10.2450/2018.0136-18. [Epub ahead of print]

12.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL.

J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.

PMID:
30143481
13.

Effects of age and visual attention demands on optokinetic nystagmus suppression.

Dyer RK, Abel LA.

Exp Eye Res. 2018 Aug 21. pii: S0014-4835(18)30364-6. doi: 10.1016/j.exer.2018.08.011. [Epub ahead of print]

PMID:
30138608
14.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL.

Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

15.

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.

16.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL.

J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.

PMID:
30068544
17.

Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines.

Scepanovic P, Alanio C, Hammer C, Hodel F, Bergstedt J, Patin E, Thorball CW, Chaturvedi N, Charbit B, Abel L, Quintana-Murci L, Duffy D, Albert ML, Fellay J; Milieu Intérieur Consortium.

Genome Med. 2018 Jul 27;10(1):59. doi: 10.1186/s13073-018-0568-8.

18.

Behavioral Variant Frontotemporal Dementia Performance on a Range of Saccadic Tasks.

Douglass A, Walterfang M, Velakoulis D, Abel L.

J Alzheimers Dis. 2018;65(1):231-242. doi: 10.3233/JAD-170797.

PMID:
30040708
19.

Is experience in multi-genre video game playing accompanied by impulsivity?

Azizi E, Stainer MJ, Abel LA.

Acta Psychol (Amst). 2018 Oct;190:78-84. doi: 10.1016/j.actpsy.2018.07.006. Epub 2018 Jul 19.

PMID:
30031355
20.

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Requena D, Maffucci P, Bigio B, Shang L, Abhyankar A, Boisson B, Stenson PD, Cooper DN, Cunningham-Rundles C, Casanova JL, Abel L, Itan Y.

Front Immunol. 2018 Jun 27;9:1340. doi: 10.3389/fimmu.2018.01340. eCollection 2018.

21.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J.

J Clin Immunol. 2018 Jul 11. doi: 10.1007/s10875-018-0527-6. [Epub ahead of print]

PMID:
29995221
22.

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J.

J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6.

23.

White matter microstructure in anorexia nervosa.

Phillipou A, Carruthers SP, Di Biase MA, Zalesky A, Abel LA, Castle DJ, Gurvich C, Rossell SL.

Hum Brain Mapp. 2018 Nov;39(11):4385-4392. doi: 10.1002/hbm.24279. Epub 2018 Jul 2.

PMID:
29964345
24.

Quantifying intervals to diagnosis in myeloma: a systematic review and meta-analysis.

Koshiaris C, Oke J, Abel L, Nicholson BD, Ramasamy K, Van den Bruel A.

BMJ Open. 2018 Jun 22;8(6):e019758. doi: 10.1136/bmjopen-2017-019758.

25.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4956. doi: 10.1126/sciimmunol.aat4956.

26.

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Glanzmann B, Möller M, Moncada-Velez M, Peter J, Urban M, van Helden PD, Hoal EG, de Villiers N, Glashoff RH, Nortje R, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S, Esser M, Kinnear CJ.

J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18. No abstract available.

PMID:
29777412
27.

Transition: The road to becoming a nurse practitioner.

Abel L.

Nurse Pract. 2018 Jun 11;43(6):8. doi: 10.1097/01.NPR.0000532769.99003.ba. No abstract available.

PMID:
29757828
28.

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

Vincent QB, Belkadi A, Fayard C, Marion E, Adeye A, Ardant MF, Johnson CR, Agossadou D, Lorenzo L, Guergnon J, Bole-Feysot C, Manry J, Nitschké P, Theodorou I, Casanova JL, Marsollier L, Chauty A, Abel L, Alcaïs A; Franco-Beninese Buruli Research Group.

PLoS Negl Trop Dis. 2018 Apr 30;12(4):e0006429. doi: 10.1371/journal.pntd.0006429. eCollection 2018 Apr.

29.

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Alodayani AN, Al-Otaibi AM, Deswarte C, Frayha HH, Bouaziz M, AlHelale M, Le Voyer T, Nieto-Patlan A, Rattina V, AlZahrani M, Halwani R, Al Sohime F, Al-Mousa H, Al-Muhsen S, Alhajjar SH, Dhayhi NS, Abel L, Casanova JL, Bin-Hussain I, AlBarrak MS, Al-Jumaah SA, Bustamante J.

J Clin Immunol. 2018 Apr;38(3):278-282. doi: 10.1007/s10875-018-0490-2. Epub 2018 Mar 27.

PMID:
29589181
30.

Preference-based measures to obtain health state utility values for use in economic evaluations with child-based populations: a review and UK-based focus group assessment of patient and parent choices.

Wolstenholme JL, Bargo D, Wang K, Harnden A, Räisänen U, Abel L.

Qual Life Res. 2018 Jul;27(7):1769-1780. doi: 10.1007/s11136-018-1831-6. Epub 2018 Mar 21. Review.

31.

Saccades under Mental Load in Infantile Nystagmus Syndrome and Controls.

Salehi Fadardi M, Abel LA.

Optom Vis Sci. 2018 Apr;95(4):373-383. doi: 10.1097/OPX.0000000000001194.

PMID:
29561505
32.

A novel genetic architecture of infectious diseases.

Abel L.

Nat Rev Immunol. 2018 Apr;18(4):224. doi: 10.1038/nri.2018.19. Epub 2018 Mar 16. No abstract available.

PMID:
29545642
33.

IRF4 haploinsufficiency in a family with Whipple's disease.

Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Béziat V, Della Mina E, Oleaga-Quintas C, Lazarov T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL.

Elife. 2018 Mar 14;7. pii: e32340. doi: 10.7554/eLife.32340.

34.

Congenital achiasma and see-saw nystagmus in VATER syndrome association with hydrocephalus.

Nguyen CT, Goh C, Desmond P, Abel LA, Lim CHL, Andrew Symons RC, Hardy TG.

J Clin Neurosci. 2018 May;51:63-65. doi: 10.1016/j.jocn.2018.02.008. Epub 2018 Feb 23. No abstract available.

PMID:
29483009
35.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL.

Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019.

PMID:
29474921
36.

Review and critical appraisal of studies mapping from quality of life or clinical measures to EQ-5D: an online database and application of the MAPS statement.

Dakin H, Abel L, Burns R, Yang Y.

Health Qual Life Outcomes. 2018 Feb 12;16(1):31. doi: 10.1186/s12955-018-0857-3. Review.

37.

The Suspected CANcer (SCAN) pathway: protocol for evaluating a new standard of care for patients with non-specific symptoms of cancer.

Nicholson BD, Oke J, Friedemann Smith C, Phillips JA, Lee J, Abel L, Kelly S, Gould I, Mackay T, Kaveney Z, Anthony S, Hayles S, Lasserson D, Gleeson F.

BMJ Open. 2018 Jan 21;8(1):e018168. doi: 10.1136/bmjopen-2017-018168.

38.

Fostering Spontaneous Visual Attention in Children on the Autism Spectrum: A Proof-of-Concept Study Comparing Singing and Speech.

Thompson GA, Abel LA.

Autism Res. 2018 May;11(5):732-737. doi: 10.1002/aur.1930. Epub 2018 Jan 22.

PMID:
29356417
39.

Human genetics of infectious diseases: Unique insights into immunological redundancy.

Casanova JL, Abel L.

Semin Immunol. 2018 Apr;36:1-12. doi: 10.1016/j.smim.2017.12.008. Epub 2017 Dec 16. Review.

PMID:
29254755
40.

Differences in regional grey matter volumes in currently ill patients with anorexia nervosa.

Phillipou A, Rossell SL, Gurvich C, Castle DJ, Abel LA, Nibbs RG, Hughes ME.

Eur J Neurosci. 2018 Jan;47(2):177-183. doi: 10.1111/ejn.13793. Epub 2018 Jan 10.

PMID:
29244231
41.

Point-of-care Helicobacter pylori testing: primary care technology update.

Nicholson BD, Abel LM, Turner PJ, Price CP, Heneghan C, Hayward G, Plüddemann A.

Br J Gen Pract. 2017 Dec;67(665):576-577. doi: 10.3399/bjgp17X693881. No abstract available.

42.

Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives.

Abel L, Fellay J, Haas DW, Schurr E, Srikrishna G, Urbanowski M, Chaturvedi N, Srinivasan S, Johnson DH, Bishai WR.

Lancet Infect Dis. 2018 Mar;18(3):e64-e75. doi: 10.1016/S1473-3099(17)30623-0. Epub 2017 Oct 27. Review.

PMID:
29111156
43.

Spontaneous blink rate in anorexia nervosa: Implications for dopaminergic activity in anorexia nervosa.

Phillipou A, Woods W, Abel LA, Rossell SL, Hughes ME, Castle DJ, Gurvich C.

Aust N Z J Psychiatry. 2018 Jul;52(7):713-714. doi: 10.1177/0004867417739692. Epub 2017 Oct 28. No abstract available.

PMID:
29081234
44.

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation.

Jabot-Hanin F, Cobat A, Feinberg J, Orlova M, Niay J, Deswarte C, Poirier C, Theodorou I, Bustamante J, Boisson-Dupuis S, Casanova JL, Alcaïs A, Hoal EG, Delacourt C, Schurr E, Abel L.

Sci Rep. 2017 Oct 9;7(1):12800. doi: 10.1038/s41598-017-13017-8.

45.

An in vitro diagnostic certified point of care single nucleotide test for IL28B polymorphisms.

Duffy D, Mottez E, Ainsworth S, Buivan TP, Baudin A, Vray M, Reed B, Fontanet A, Rohel A, Petrov-Sanchez V, Abel L, Theodorou I, Miele G, Pol S, Albert ML.

PLoS One. 2017 Sep 6;12(9):e0183084. doi: 10.1371/journal.pone.0183084. eCollection 2017.

46.

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.

Ogunjimi B, Zhang SY, Sørensen KB, Skipper KA, Carter-Timofte M, Kerner G, Luecke S, Prabakaran T, Cai Y, Meester J, Bartholomeus E, Bolar NA, Vandeweyer G, Claes C, Sillis Y, Lorenzo L, Fiorenza RA, Boucherit S, Dielman C, Heynderickx S, Elias G, Kurotova A, Auwera AV, Verstraete L, Lagae L, Verhelst H, Jansen A, Ramet J, Suls A, Smits E, Ceulemans B, Van Laer L, Plat Wilson G, Kreth J, Picard C, Von Bernuth H, Fluss J, Chabrier S, Abel L, Mortier G, Fribourg S, Mikkelsen JG, Casanova JL, Paludan SR, Mogensen TH.

J Clin Invest. 2017 Sep 1;127(9):3543-3556. doi: 10.1172/JCI92280. Epub 2017 Aug 7.

47.

[Management of a Port Catheter-Related Superior Vena Cava Thrombosis in the Setting of Active Crohn's Disease: A Case Report].

Abel L, Uhde B, Dembinski R, Schraepler K.

Dtsch Med Wochenschr. 2017 Aug;142(15):1155-1157. doi: 10.1055/s-0043-112231. Epub 2017 Aug 1. German.

PMID:
28763827
48.

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC.

J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.

49.

Effects of drinking desalinated seawater on cell viability and proliferation.

Macarrão CL, Bachi ALL, Mariano M, Abel LJ.

J Water Health. 2017 Jun;15(3):360-366. doi: 10.2166/wh.2017.252.

PMID:
28598340
50.

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Jackson CC, Lefèvre-Utile A, Guimier A, Malan V, Bruneau J, Gessain A, Cassar O, Amiel J, Cobat A, Rattina V, Abel L, Casanova JL, Blanche S.

Am J Med Genet A. 2017 May 9. doi: 10.1002/ajmg.a.38275. [Epub ahead of print]

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