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>>Overview of scientific publications : Dr Guillaume SMITS

Guillaume SMITS

1: Brachet C, Kozhemyakina E, Boros E, Heinrichs C, Balikova I, Soblet J, Smits G, Vilain C, Mathers PH. Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men. J Clin Endocrinol Metab. 2019 Feb 27. pii: jc.2018-02316. doi: 10.1210/jc.2018-02316. [Epub ahead of print]
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2: Goetghebuer T, Smolen KK, Adler C, Das J, McBride T, Smits G, Lecomte S, Haelterman E, Barlow P, Piedra PA, van der Klis F, Kollmann TR, Lauffenburger DA, Alter G, Levy J, Marchant A. Reply to Slogrove, et al. Clin Infect Dis. 2018 Dec 11. doi: 10.1093/cid/ciy1058. [Epub ahead of print]
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3: Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.
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4: Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hancárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Šterbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med. 2018 Oct 2. doi: 10.1038/s41436-018-0327-7. [Epub ahead of print]
>PubMed

5: Goetghebuer T, Smolen KK, Adler C, Das J, McBride T, Smits G, Lecomte S, Haelterman E, Barlow P, Piedra PA, van der Klis F, Kollmann TR, Lauffenburger DA, Alter G, Levy J, Marchant A. Initiation of anti-retroviral therapy before pregnancy reduces the risk of infection-related hospitalization in HIV-exposed uninfected infants born in a high-income country. Clin Infect Dis. 2018 Sep 12. doi: 10.1093/cid/ciy673. [Epub ahead of print]
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6: Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hancárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Šterbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.
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7: Soblet J, Dimov I, Graf von Kalckreuth C, Cano-Chervel J, Baijot S, Pelc K, Sottiaux M, Vilain C, Smits G, Deconinck N. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. Am J Med Genet A. 2018 Jan;176(1):201-208. doi: 10.1002/ajmg.a.38479. Epub 2017 Sep 27.
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8: Gazzo A, Raimondi D, Daneels D, Moreau Y, Smits G, Van Dooren S, Lenaerts T. Understanding mutational effects in digenic diseases. Nucleic Acids Res. 2017 Sep 6;45(15):e140. doi: 10.1093/nar/gkx557.
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9: Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.
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10: Wilms T, Swinnen E, Eskes E, Dolz-Edo L, Uwineza A, Van Essche R, Rosseels J, Zabrocki P, Cameroni E, Franssens V, De Virgilio C, Smits GJ, Winderickx J. The yeast protein kinase Sch9 adjusts V-ATPase assembly/disassembly to control pH homeostasis and longevity in response to glucose availability. PLoS Genet. 2017 Jun 12;13(6):e1006835. doi: 10.1371/journal.pgen.1006835. eCollection 2017 Jun.
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11: Dierckxsens N, Mardulyn P, Smits G. NOVOPlasty: de novo assembly of organelle genomes from whole genome data. Nucleic Acids Res. 2017 Feb 28;45(4):e18. doi: 10.1093/nar/gkw955.
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12: Pieters BR, van der Steen-Banasik E, Smits GA, De Brabandere M, Bossi A, Van Limbergen E. GEC-ESTRO/ACROP recommendations for performing bladder-sparing treatment with brachytherapy for muscle-invasive bladder carcinoma. Radiother Oncol. 2017 Mar;122(3):340-346. doi: 10.1016/j.radonc.2016.12.022. Epub 2016 Dec 31.
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13: Gazzo AM, Daneels D, Cilia E, Bonduelle M, Abramowicz M, Van Dooren S, Smits G, Lenaerts T. DIDA: A curated and annotated digenic diseases database. Nucleic Acids Res. 2016 Jan 4;44(D1):D900-7. doi: 10.1093/nar/gkv1068. Epub 2015 Oct 19.
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14: Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Review.
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15: Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.
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16: Van den Bulcke T, Vanden Broucke P, Van Hoof V, Wouters K, Vanden Broucke S, Smits G, Smits E, Proesmans S, Van Genechten T, Eyskens F. Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data. J Biomed Inform. 2011 Apr;44(2):319-25. doi: 10.1016/j.jbi.2010.12.001. Epub 2010 Dec 15.
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17: Delbaere A, Smits G, Vassart G, Costagliola S. Genetic predictors of ovarian hyperstimulation syndrome in women undergoing in vitro fertilization. Nat Clin Pract Endocrinol Metab. 2006 Nov;2(11):590-1.
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18: De Leener A, Montanelli L, Van Durme J, Chae H, Smits G, Vassart G, Costagliola S. Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. J Clin Endocrinol Metab. 2006 Feb;91(2):555-62. Epub 2005 Nov 8.
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19: Delbaere A, Smits G, De Leener A, Costagliola S, Vassart G. Understanding ovarian hyperstimulation syndrome. Endocrine. 2005 Apr;26(3):285-90. Review.
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20: Ledent C, Demeestere I, Blum D, Petermans J, Hämäläinen T, Smits G, Vassart G. Premature ovarian aging in mice deficient for Gpr3. Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8922-6. Epub 2005 Jun 13.
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21: Urizar E, Montanelli L, Loy T, Bonomi M, Swillens S, Gales C, Bouvier M, Smits G, Vassart G, Costagliola S. Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity. EMBO J. 2005 Jun 1;24(11):1954-64. Epub 2005 May 12.
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22: Daelemans C, Smits G, de Maertelaer V, Costagliola S, Englert Y, Vassart G, Delbaere A. Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. J Clin Endocrinol Metab. 2004 Dec;89(12):6310-5.
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23: Montanelli L, Van Durme JJ, Smits G, Bonomi M, Rodien P, Devor EJ, Moffat-Wilson K, Pardo L, Vassart G, Costagliola S. Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor. Mol Endocrinol. 2004 Aug;18(8):2061-73. Epub 2004 May 27.
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24: Montanelli L, Delbaere A, Di Carlo C, Nappi C, Smits G, Vassart G, Costagliola S. A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. J Clin Endocrinol Metab. 2004 Apr;89(4):1255-8.
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25: Montanelli L, Delbaere A, Di Carlo C, Nappi C, Smits G, Vassart G, Costagliola S. A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. J Clin Endocrinol Metab. 2004 Mar;89(3):1255-8. Corrected and republished in: J Clin Endocrinol Metab. 2004 Apr;89(4):1255-8.
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26: Delbaere A, Smits G, Olatunbosun O, Pierson R, Vassart G, Costagliola S. New insights into the pathophysiology of ovarian hyperstimulation syndrome. What makes the difference between spontaneous and iatrogenic syndrome? Hum Reprod. 2004 Mar;19(3):486-9. Epub 2004 Jan 29. Review.
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27: Smits G, Olatunbosun O, Delbaere A, Pierson R, Vassart G, Costagliola S. Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. N Engl J Med. 2003 Aug 21;349(8):760-6.
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28: Smits G, Campillo M, Govaerts C, Janssens V, Richter C, Vassart G, Pardo L, Costagliola S. Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity. EMBO J. 2003 Jun 2;22(11):2692-703.
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29: Smits G, Govaerts C, Nubourgh I, Pardo L, Vassart G, Costagliola S. Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and human CG. Mol Endocrinol. 2002 Apr;16(4):722-35.
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30: Costagliola S, Panneels V, Bonomi M, Koch J, Many MC, Smits G, Vassart G. Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors. EMBO J. 2002 Feb 15;21(4):504-13.
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31: Lefebvre RA, Smits GJ. Investigation of the influence of pregnancy on the role of nitric oxide in gastric emptying and non-adrenergic non-cholinergic relaxation in the rat. Naunyn Schmiedebergs Arch Pharmacol. 1998 Jun;357(6):671-6.
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32: Smits GJ, Lefebvre RA. Evaluation of an electrochemical microprobe for direct NO measurement in the rat gastric fundus. J Pharmacol Toxicol Methods. 1997 Mar;37(2):97-103.
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33: Smits GJ, Lefebvre RA. Influence of aging on gastric emptying of liquids, small intestine transit, and fecal output in rats. Exp Gerontol. 1996 Sep-Oct;31(5):589-96.
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34: Smits GJ, Lefebvre RA. Development of cholinergic and inhibitory non-adrenergic non-cholinergic responses in the rat gastric funds. Br J Pharmacol. 1996 Aug;118(8):1987-94.
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35: Smits GJ, Lefebvre RA. ATP and nitric oxide: inhibitory NANC neurotransmitters in the longitudinal muscle-myenteric plexus preparation of the rat ileum. Br J Pharmacol. 1996 Jun;118(3):695-703.
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36: Smits GJ, Lefebvre RA. Influence of age on cholinergic and inhibitory nonadrenergic noncholinergic responses in the rat ileum. Eur J Pharmacol. 1996 May 6;303(1-2):79-86.
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37: van Loo J, Coussement P, de Leenheer L, Hoebregs H, Smits G. On the presence of inulin and oligofructose as natural ingredients in the western diet. Crit Rev Food Sci Nutr. 1995 Nov;35(6):525-52. Review.
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38: Lefebvre RA, Smits GJ, Timmermans JP. Study of NO and VIP as non-adrenergic non-cholinergic neurotransmitters in the pig gastric fundus. Br J Pharmacol. 1995 Oct;116(3):2017-26.
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39: Smits GJ, Lefebvre RA. Influence of age on the signal transduction pathway of non-adrenergic non-cholinergic neurotransmitters in the rat gastric fundus. Br J Pharmacol. 1995 Feb;114(3):640-7.
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40: Smits GJ, Lefebvre RA. Tachykinin receptors involved in the contractile effect of the natural tachykinins in the rat gastric fundus. J Auton Pharmacol. 1994 Dec;14(6):383-92.
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41: Smits GJ, Lefebvre RA. Influence of age on responsiveness of rat gastric fundus to agonists and to stimulation of intrinsic nerves. Eur J Pharmacol. 1992 Nov 13;223(1):97-102.
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42: Lefebvre RA, De Vriese A, Smits GJ. Influence of vasoactive intestinal polypeptide and NG-nitro-L-arginine methyl ester on cholinergic neurotransmission in the rat gastric fundus. Eur J Pharmacol. 1992 Oct 20;221(2-3):235-42.
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43: Lefebvre RA, Smits GJ. Modulation of non-adrenergic non-cholinergic inhibitory neurotransmission in rat gastric fundus by the alpha 2-adrenoceptor agonist, UK-14,304. Br J Pharmacol. 1992 Sep;107(1):256-61.
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44: Smits GJ, Lefebvre RA. Influence of thiorphan and phosphoramidon on the relaxant effect of vasoactive intestinal polypeptide and non-adrenergic non-cholinergic neurone stimulation in the rat gastric fundus. Eur J Pharmacol. 1991 Aug 6;200(2-3):361-4.
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45: Dams E, Hendriks L, Van de Peer Y, Neefs JM, Smits G, Vandenbempt I, De Wachter R. Compilation of small ribosomal subunit RNA sequences. Nucleic Acids Res. 1988;16 Suppl:r87-173.
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