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Items: 1 to 50 of 495

1.

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Meerschaut I, Beyens A, Steyaert W, De Rycke R, Bonte K, De Backer T, Janssens S, Panzer J, Plasschaert F, De Wolf D, Callewaert B.

Am J Med Genet A. 2019 Oct 9. doi: 10.1002/ajmg.a.61377. [Epub ahead of print]

PMID:
31595668
2.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Ojeda MM, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Shahar NR, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2019 Oct 8. doi: 10.1002/humu.23929. [Epub ahead of print]

PMID:
31595648
3.

Long-term outcome of cardiac allograft vasculopathy: Importance of the International Society for Heart and Lung Transplantation angiographic grading scale.

Van Keer JM, Van Aelst LNL, Rega F, Droogne W, Voros G, Meyns B, Vanhaecke J, Emonds MP, Janssens S, Naesens M, Van Cleemput J.

J Heart Lung Transplant. 2019 Aug 10. pii: S1053-2498(19)31623-7. doi: 10.1016/j.healun.2019.08.005. [Epub ahead of print]

PMID:
31543298
4.

Dynamic Changes in the Molecular Signature of Adverse Left Ventricular Remodeling in Patients With Compensated and Decompensated Chronic Primary Mitral Regurgitation.

McCutcheon K, Dickens C, van Pelt J, Dix-Peek T, Grinter S, McCutcheon L, Patel A, Hale M, Tsabedze N, Vachiat A, Zachariah D, Duarte R, Janssens S, Manga P.

Circ Heart Fail. 2019 Sep;12(9):e005974. doi: 10.1161/CIRCHEARTFAILURE.119.005974. Epub 2019 Sep 12.

PMID:
31510777
5.

Genomic Regions Associated with IgE Levels against Culicoides spp. Antigens in Three Horse Breeds.

François L, Hoskens H, Velie BD, Stinckens A, Tinel S, Lamberigts C, Peeters L, Savelkoul HFJ, Tijhaar E, Lindgren G, Janssens S, Ducro BJ, Buys N, Schurink AA.

Genes (Basel). 2019 Aug 8;10(8). pii: E597. doi: 10.3390/genes10080597.

6.

The ORMDL3 asthma susceptibility gene regulates systemic ceramide levels without altering key asthma features in mice.

Debeuf N, Zhakupova A, Steiner R, Van Gassen S, Deswarte K, Fayazpour F, Van Moorleghem J, Vergote K, Pavie B, Lemeire K, Hammad H, Hornemann T, Janssens S, Lambrecht BN.

J Allergy Clin Immunol. 2019 Jul 20. pii: S0091-6749(19)30943-1. doi: 10.1016/j.jaci.2019.06.041. [Epub ahead of print]

PMID:
31330218
7.

Early or deferred cardiovascular magnetic resonance after ST-segment-elevation myocardial infarction for effective risk stratification.

Masci PG, Pavon AG, Pontone G, Symons R, Lorenzoni V, Francone M, Zalewski J, Barison A, Guglielmo M, Aquaro GD, Galea N, Muscogiuri G, Muller O, Carbone I, Baggiano A, Iglesias JF, Nessler J, Andreini D, Camici PG, Claus P, Luca L, Agati L, Janssens S, Schwitter J, Bogaert J.

Eur Heart J Cardiovasc Imaging. 2019 Jul 20. pii: jez179. doi: 10.1093/ehjci/jez179. [Epub ahead of print]

PMID:
31326993
8.

Impella Protected PCI: Exploring the Mechanism of Ventriculoarterial Uncoupling.

Vandenbriele C, Balthazar T, Janssens S, Adriaenssens T, Bennett J.

JACC Cardiovasc Interv. 2019 Oct 14;12(19):1979-1980. doi: 10.1016/j.jcin.2019.05.037. Epub 2019 Jul 17. No abstract available.

PMID:
31326423
9.

Is the bacterial leaf nodule symbiosis obligate for Psychotria umbellata? The development of a Burkholderia-free host plant.

Sinnesael A, Leroux O, Janssens SB, Smets E, Panis B, Verstraete B.

PLoS One. 2019 Jul 16;14(7):e0219863. doi: 10.1371/journal.pone.0219863. eCollection 2019.

10.

The ubiquitin-editing enzyme A20 controls NK cell homeostasis through regulation of mTOR activity and TNF.

Vetters J, van Helden MJ, Wahlen S, Tavernier SJ, Martens A, Fayazpour F, Vergote K, Vanheerswynghels M, Deswarte K, Van Moorleghem J, De Prijck S, Takahashi N, Vandenabeele P, Boon L, van Loo G, Vivier E, Lambrecht BN, Janssens S.

J Exp Med. 2019 Sep 2;216(9):2010-2023. doi: 10.1084/jem.20182164. Epub 2019 Jul 11.

PMID:
31296735
11.

General practitioners' perceptions about their role in current and future heart failure care: an exploratory qualitative study.

Smeets M, Zervas S, Leben H, Vermandere M, Janssens S, Mullens W, Aertgeerts B, Vaes B.

BMC Health Serv Res. 2019 Jun 28;19(1):432. doi: 10.1186/s12913-019-4271-2.

12.

Metabolic and Innate Immune Cues Merge into a Specific Inflammatory Response via the UPR.

Mogilenko DA, Haas JT, L'homme L, Fleury S, Quemener S, Levavasseur M, Becquart C, Wartelle J, Bogomolova A, Pineau L, Molendi-Coste O, Lancel S, Dehondt H, Gheeraert C, Melchior A, Dewas C, Nikitin A, Pic S, Rabhi N, Annicotte JS, Oyadomari S, Velasco-Hernandez T, Cammenga J, Foretz M, Viollet B, Vukovic M, Villacreces A, Kranc K, Carmeliet P, Marot G, Boulter A, Tavernier S, Berod L, Longhi MP, Paget C, Janssens S, Staumont-Sallé D, Aksoy E, Staels B, Dombrowicz D.

Cell. 2019 Jun 27;178(1):263. doi: 10.1016/j.cell.2019.06.017. No abstract available.

PMID:
31251916
13.

Dose-dependent improvement of cardiac function in a swine model of acute myocardial infarction after intracoronary administration of allogeneic heart-derived cells.

Crisostomo V, Baez C, Abad JL, Sanchez B, Alvarez V, Rosado R, Gómez-Mauricio G, Gheysens O, Blanco-Blazquez V, Blazquez R, Torán JL, Casado JG, Aguilar S, Janssens S, Sánchez-Margallo FM, Rodriguez-Borlado L, Bernad A, Palacios I.

Stem Cell Res Ther. 2019 May 31;10(1):152. doi: 10.1186/s13287-019-1237-6.

14.

Nectar traits differ between pollination syndromes in Balsaminaceae.

Vandelook F, Janssens SB, Gijbels P, Fischer E, Van den Ende W, Honnay O, Abrahamczyk S.

Ann Bot. 2019 Sep 24;124(2):269-279. doi: 10.1093/aob/mcz072.

15.

Phylogenomic analyses reveal an exceptionally high number of evolutionary shifts in a florally diverse clade of African legumes.

Ojeda DI, Koenen E, Cervantes S, de la Estrella M, Banguera-Hinestroza E, Janssens SB, Migliore J, Demenou BB, Bruneau A, Forest F, Hardy OJ.

Mol Phylogenet Evol. 2019 Aug;137:156-167. doi: 10.1016/j.ympev.2019.05.002. Epub 2019 May 7.

PMID:
31075505
16.

Myofibroblast Phenotype and Reversibility of Fibrosis in Patients With End-Stage Heart Failure.

Nagaraju CK, Robinson EL, Abdesselem M, Trenson S, Dries E, Gilbert G, Janssens S, Van Cleemput J, Rega F, Meyns B, Roderick HL, Driesen RB, Sipido KR.

J Am Coll Cardiol. 2019 May 14;73(18):2267-2282. doi: 10.1016/j.jacc.2019.02.049.

17.

Metabolic and Innate Immune Cues Merge into a Specific Inflammatory Response via the UPR.

Mogilenko DA, Haas JT, L'homme L, Fleury S, Quemener S, Levavasseur M, Becquart C, Wartelle J, Bogomolova A, Pineau L, Molendi-Coste O, Lancel S, Dehondt H, Gheeraert C, Melchior A, Dewas C, Nikitin A, Pic S, Rabhi N, Annicotte JS, Oyadomari S, Velasco-Hernandez T, Cammenga J, Foretz M, Viollet B, Vukovic M, Villacreces A, Kranc K, Carmeliet P, Marot G, Boulter A, Tavernier S, Berod L, Longhi MP, Paget C, Janssens S, Staumont-Sallé D, Aksoy E, Staels B, Dombrowicz D.

Cell. 2019 May 16;177(5):1201-1216.e19. doi: 10.1016/j.cell.2019.03.018. Epub 2019 Apr 25. Erratum in: Cell. 2019 Jun 27;178(1):263.

PMID:
31031005
18.

Monitoring of behavior, sex hormones and boar taint compounds during the vaccination program for immunocastration in three sire lines.

Heyrman E, Kowalski E, Millet S, Tuyttens FAM, Ampe B, Janssens S, Buys N, Wauters J, Vanhaecke L, Aluwé M.

Res Vet Sci. 2019 Jun;124:293-302. doi: 10.1016/j.rvsc.2019.04.010. Epub 2019 Apr 11.

PMID:
31026762
19.

Think-aloud study about the diagnosis of chronic heart failure in Belgian general practice.

Smeets M, De Witte P, Peters S, Aertgeerts B, Janssens S, Vaes B.

BMJ Open. 2019 Mar 20;9(3):e025922. doi: 10.1136/bmjopen-2018-025922.

20.

Early goal-directed haemodynamic optimization of cerebral oxygenation in comatose survivors after cardiac arrest: the Neuroprotect post-cardiac arrest trial.

Ameloot K, De Deyne C, Eertmans W, Ferdinande B, Dupont M, Palmers PJ, Petit T, Nuyens P, Maeremans J, Vundelinckx J, Vanhaverbeke M, Belmans A, Peeters R, Demaerel P, Lemmens R, Dens J, Janssens S.

Eur Heart J. 2019 Jun 7;40(22):1804-1814. doi: 10.1093/eurheartj/ehz120.

PMID:
30895296
21.

The effect of Piétrain sire on the performance of the progeny of two commercial dam breeds: a pig intervention study.

De Cuyper C, Tanghe S, Janssens S, Van den Broeke A, Van Meensel J, Aluwé M, Ampe B, Buys N, Millet S.

Animal. 2019 Oct;13(10):2125-2132. doi: 10.1017/S1751731119000429. Epub 2019 Mar 8.

PMID:
30846009
22.

Simulation-based educational package to improve delivery of the deeply impacted fetal head at caesarean section.

Yu M, Wilson E, Janssens S.

Aust N Z J Obstet Gynaecol. 2019 Apr;59(2):308-311. doi: 10.1111/ajo.12946. Epub 2019 Feb 18.

PMID:
30773612
23.

Enset in Ethiopia: a poorly characterized but resilient starch staple.

Borrell JS, Biswas MK, Goodwin M, Blomme G, Schwarzacher T, Heslop-Harrison JSP, Wendawek AM, Berhanu A, Kallow S, Janssens S, Molla EL, Davis AP, Woldeyes F, Willis K, Demissew S, Wilkin P.

Ann Bot. 2019 May 20;123(5):747-766. doi: 10.1093/aob/mcy214.

PMID:
30715125
24.

Burden of heart failure in Flemish general practices: a registry-based study in the Intego database.

Smeets M, Vaes B, Mamouris P, Van Den Akker M, Van Pottelbergh G, Goderis G, Janssens S, Aertgeerts B, Henrard S.

BMJ Open. 2019 Jan 7;9(1):e022972. doi: 10.1136/bmjopen-2018-022972.

25.

Development and evaluation of a genome-wide Coffee 8.5K SNP array and its application for high-density genetic mapping and for investigating the origin of Coffea arabica L.

Merot-L'anthoene V, Tournebize R, Darracq O, Rattina V, Lepelley M, Bellanger L, Tranchant-Dubreuil C, Coulée M, Pégard M, Metairon S, Fournier C, Stoffelen P, Janssens SB, Kiwuka C, Musoli P, Sumirat U, Legnaté H, Kambale JL, Ferreira da Costa Neto J, Revel C, de Kochko A, Descombes P, Crouzillat D, Poncet V.

Plant Biotechnol J. 2019 Jul;17(7):1418-1430. doi: 10.1111/pbi.13066. Epub 2019 Feb 4.

26.

Increased Cardiac Uptake of Ketone Bodies and Free Fatty Acids in Human Heart Failure and Hypertrophic Left Ventricular Remodeling.

Voros G, Ector J, Garweg C, Droogne W, Van Cleemput J, Peersman N, Vermeersch P, Janssens S.

Circ Heart Fail. 2018 Dec;11(12):e004953. doi: 10.1161/CIRCHEARTFAILURE.118.004953. Erratum in: Circ Heart Fail. 2019 Mar;12(3):e000035.

PMID:
30562098
27.

Stabilization of cytokine mRNAs in iNKT cells requires the serine-threonine kinase IRE1alpha.

Govindarajan S, Gaublomme D, Van der Cruyssen R, Verheugen E, Van Gassen S, Saeys Y, Tavernier S, Iwawaki T, Bloch Y, Savvides SN, Lambrecht BN, Janssens S, Elewaut D, Drennan MB.

Nat Commun. 2018 Dec 17;9(1):5340. doi: 10.1038/s41467-018-07758-x.

28.

Detection of Burkholderia in the seeds of Psychotria punctata (Rubiaceae) - Microscopic evidence for vertical transmission in the leaf nodule symbiosis.

Sinnesael A, Eeckhout S, Janssens SB, Smets E, Panis B, Leroux O, Verstraete B.

PLoS One. 2018 Dec 14;13(12):e0209091. doi: 10.1371/journal.pone.0209091. eCollection 2018.

29.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B.

PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec.

30.

Optimising standards of care of heart failure in general practice the OSCAR-HF pilot study protocol.

Smeets M, Aertgeerts B, Mullens W, Penders J, Vercammen J, Janssens S, Vaes B.

Acta Cardiol. 2019 Oct;74(5):371-379. doi: 10.1080/00015385.2018.1507426. Epub 2018 Dec 3.

PMID:
30507291
31.

Prognostic value of electrocardiographic time intervals and QT rate dependence in hypertrophic cardiomyopathy.

Robyns T, Nuyens D, Lu HR, Gallacher DJ, Vandenberk B, Garweg C, Ector J, Pagourelias E, Van Cleemput J, Janssens S, Willems R.

J Electrocardiol. 2018 Nov - Dec;51(6):1077-1083. doi: 10.1016/j.jelectrocard.2018.09.005. Epub 2018 Sep 12.

PMID:
30497734
32.

Is that realistic? The development of a realism assessment questionnaire and its application in appraising three simulators for a gynaecology procedure.

Wilson E, Hewett DG, Jolly BC, Janssens S, Beckmann MM.

Adv Simul (Lond). 2018 Nov 8;3:21. doi: 10.1186/s41077-018-0080-7. eCollection 2018.

33.

Phylogeny, infrageneric classification and species delimitation in the Malagasy Impatiens (Balsaminaceae).

Rahelivololona EM, Fischer E, Janssens SB, Sylvain G Razafimandimbison.

PhytoKeys. 2018 Nov 2;(110):51-67. doi: 10.3897/phytokeys.110.28216. eCollection 2018.

34.

Trainee Performance in Loop Electrosurgical Excision Procedure (LEEP) After Simulation Training.

Wilson E, Janssens S, Ng D, Jolly B, Hewett DG, Beckmann M.

J Low Genit Tract Dis. 2019 Jan;23(1):28-32. doi: 10.1097/LGT.0000000000000443.

PMID:
30376485
35.

FACS-Mediated Isolation of Neuronal Cell Populations From Virus-Infected Human Embryonic Stem Cell-Derived Cerebral Organoid Cultures.

Janssens S, Schotsaert M, Manganaro L, Dejosez M, Simon V, García-Sastre A, Zwaka TP.

Curr Protoc Stem Cell Biol. 2019 Feb;48(1):e65. doi: 10.1002/cpsc.65. Epub 2018 Oct 24.

PMID:
30358129
36.

Effect of Cardiac Resynchronization Therapy on Exercise-Induced Pulmonary Hypertension and Right Ventricular-Arterial Coupling.

Martens P, Verbrugge FH, Bertrand PB, Verhaert D, Vandervoort P, Dupont M, Tang WHW, Janssens S, Mullens W.

Circ Cardiovasc Imaging. 2018 Sep;11(9):e007813. doi: 10.1161/CIRCIMAGING.118.007813.

PMID:
30354673
37.

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S.

Hum Mol Genet. 2019 Feb 15;28(4):615-627. doi: 10.1093/hmg/ddy352.

38.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, Chiarappa P, Courtens W, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Fieuw A, Fransen E, Gatot JS, Holmgren P, Jamar M, Janssens S, Keymolen K, Lederer D, Menten B, Meuwissen M, Parmentier B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vanakker O, Vermeesch J, Janssens K.

Prenat Diagn. 2018 Dec;38(13):1120-1128. doi: 10.1002/pd.5373. Epub 2018 Nov 14.

PMID:
30334587
39.

A novel approach to assess cerebral and coronary perfusion after cardiac arrest.

Adjedj J, Picard F, Vanhaverbeke M, De Bruyne B, Cariou A, Wu M, Janssens S, Varenne O.

Intensive Care Med Exp. 2018 Oct 12;6(1):39. doi: 10.1186/s40635-018-0204-3.

40.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

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, Hančárová 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, Štěrbová 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.

Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
41.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8.

PMID:
30275510
42.

Defining quality indicators for heart failure in general practice.

Smets M, Smeets M, Van den Bulck S, Janssens S, Aertgeerts B, Vaes B.

Acta Cardiol. 2019 Aug;74(4):291-298. doi: 10.1080/00015385.2018.1492659. Epub 2018 Sep 27.

PMID:
30261830
43.

Urinary proteomic signatures associated with β-blockade and heart rate in heart transplant recipients.

Huang QF, Van Keer J, Zhang ZY, Trenson S, Nkuipou-Kenfack E, Van Aelst LNL, Yang WY, Thijs L, Wei FF, Ciarka A, Vanhaecke J, Janssens S, Van Cleemput J, Mischak H, Staessen JA.

PLoS One. 2018 Sep 24;13(9):e0204439. doi: 10.1371/journal.pone.0204439. eCollection 2018.

44.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

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, Hančárová 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, Štěrbová 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.

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;:.

45.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Erratum in: Genet Med. 2019 Mar;21(3):764-765.

46.

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