![]() ![]() | Wechsung, K., Al-Halak M, Avdjieva-Tzavella, D., Bechtold-Dalla Pozza S, Beger, C., Gausche, R., Grasemann, C., & Harvengt, J. (16 November 2024). Real World Effectiveness of Vosoritide in 217 Children with Achondroplasia - Data from a Multicenter European Registry [Poster presentation]. ESPE 2024 LIVERPOOL, LIVERPOOL, United Kingdom. ![]() |
![]() ![]() | FUDVOYE, J., Chatelain, C., Harvengt, J., Demarche, M., & Parent, A.-S. (November 2024). Challenges in prenatal and postnatal management of 45,X/46,X, idic (Y) mosaicism [Paper presentation]. The 62nd Annual ESPE Meeting 2024, Liverpool, United Kingdom. |
![]() ![]() | Van Kerkhoven, C., mumba, L., Harvengt, J., & Misson, J.-P. (2024). Severe hypotonia and developmental delay due to an EBF3 pathogenic variant: Clinical implications of a molecular defect and narrative review. Belgian Journal of Paediatrics. ![]() |
![]() ![]() | Harvengt, J., Docampo Martínez, E., Jacquinet, A., Alkan, S., Martin, M., Debray, F.-G., BULK, S., & Bours, V. (12 April 2024). New paradigms in clinical geneticist practice in the era of emerging therapies: examples of two pediatric syndromes [Poster presentation]. BESHG Annual Symposium 2024. ![]() |
![]() ![]() | Lorquet, S., Chatelain, C., Laterre, M., FUDVOYE, J., SENTERRE, A., Vanwynsberghe, A., DEBERG, M., Gatot, J.-S., Bulk, S., & Harvengt, J. (January 2024). Cas clinique : Mise au point diagnostique d’une discordance de sexe fœtal à l’ère du IPT génomique : illustration clinique et recommandation pratique. Revue Médicale de Liège, 79 (1). ![]() |
Harvengt, J. (20 October 2023). Hyperphagia and Genetic Obesity, a growing concern in daily practice. Genetic testing – when to prescribe ? [Paper presentation]. 33rd Meeting of the Belgian Endocrine Society, La Hulpe, Belgium. |
![]() ![]() | Harvengt, J., & Hannon, M. (2023). Genetics of severe early-onset obesity: diagnosis of monogenic etiologies as a new paradigm and challenge in the era of new anti-obesity therapies. Tempo Médical. ![]() |
![]() ![]() | Harvengt, J., Dimitrov, B., Docquier, P.-L., Boudewyns, A., De Vloo, P., Laumen, A., Plasschaert, F., De Rademaeker, M., Schrouff, I., DeWaele, K., & Mortier, G. (12 April 2023). Management of achondroplasia in Belgium: Overview of the current practice based on a multicentric survey [Poster presentation]. BESHG Annual Symposium 2024. ![]() |
![]() ![]() | Harvengt, J., Lumaka, A., Fasquelle, C., CABERG, J.-H., Mastouri, M., JANSSEN, A., Palmeira, L., & Bours, V. (22 March 2023). HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome. Frontiers in Genetics, 14, 1137767. doi:10.3389/fgene.2023.1137767 ![]() |
Chatelain, C., Harvengt, J., Leroy, P. (Other coll.), CABERG, J.-H. (Other coll.), Debray, F.-G. (Other coll.), BULK, S. (Other coll.), & Bours, V. (Other coll.). (17 March 2023). Missense variant c.593A>G p.(Lys198Arg) in CSNK2A1, a recurrent variant in Okur-Chung neurodevelopmental syndrome: a case report and review of literature [Poster presentation]. Annual Meeting : To DNA and beyond, Charleroi, Belgium. |
![]() ![]() | Greene, D., Genomics England Research Consortium, Pirri, D., Frudd, K., Sackey, E., Al-Owain, M., Giese, A. P. J., Ramzan, K., Riaz, S., Yamanaka, I., Boeckx, N., Thys, C., Gelb, B. D., Brennan, P., Hartill, V., Harvengt, J., Kosho, T., Mansour, S., Masuno, M., ... Turro, E. (16 March 2023). Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature Medicine, 29 (3), 679 - 688. doi:10.1038/s41591-023-02211-z ![]() |
![]() ![]() | Lumaka Zola, A., Fasquelle, C., Debray, F.-G., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., VAESSEN, S., Viellevoye, R., Palmeira, L., CHARLOTEAUX, B., Brysse, A., BULK, S., Rigo, V., & Bours, V. (16 February 2023). Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours. International Journal of Molecular Sciences, 24 (4), 4003. doi:10.3390/ijms24044003 ![]() |
![]() ![]() | Desse, B., Tran, A., Butori, M., Marchal, S., Afanetti, M., Barthélemy, S., Bérard, E., Baechler, E., Debelleix, S., Lampin, M.-E., Macey, J., Massenavette, B., Harvengt, J., Trang, H., & Giovannini-Chami, L. (31 August 2022). ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge. Frontiers in Pediatrics, 10. doi:10.3389/fped.2022.910099 ![]() |
![]() ![]() | WARNIER, H., BARREA, C., BETHLEN, S., SCHROUFF, I., & HARVENGT, J. (23 April 2022). Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review. Orphanet Journal of Rare Diseases, 17 (1), 174. doi:10.1186/s13023-022-02323-8 ![]() |
KEMPENEERS, C., Bricmont, N., Bonhiver, R., GUISSARD, F., HOUGRAND, O., DELVENNE, P., JACQUINET, A., HARVENGT, J., DOCAMPO MARTINEZ, E., BOURS, V., Benchimol, L., POIRRIER, A.-L., LEFEBVRE, P., CALMES, D., LOUIS, R., & SEGHAYE, M.-C. (17 March 2022). Ciliary videomicroscopy at room temperature lacks sensitivity for PCD diagnosis [Poster presentation]. Congress of the BVK-SBP, Brussels, Belgium. ![]() |
![]() ![]() | HARVENGT, J., Lumaka Zola, A., FASQUELLE, C., & BOURS, V. (26 February 2022). HIDEA Syndrome : A new case report highlighting similarities with ROHHAD Syndrome [Poster presentation]. ROHHAD International Consortium Virtual Symposium. ![]() |
![]() ![]() | BOEMER, F., JOSSE, C., LUIS, G., Di Valentin, E., Thiry, J., CELLO, C., CABERG, J.-H., DADOUMONT, C., HARVENGT, J., Lumaka, A., BOURS, V., & DEBRAY, F.-G. (18 February 2022). Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy. International Journal of Molecular Sciences, 23 (4), 2253. doi:10.3390/ijms23042253 ![]() |
![]() ![]() | DOCAMPO MARTINEZ, E., MARTIN, M., GANGOLF, M., HARVENGT, J., BULK, S., SEGERS, K., LEROI, N., LETE, C., PALMARICCIOTTI, V., Freire Chadrina, M., LAMBERT, F., & Bours, V. (2021). Hérédité et cancer. Revue Médicale de Liège, 76 (5-6), 327-336. ![]() |
![]() ![]() | FUDVOYE, J., MALAISE, O., Moline, S., & HARVENGT, J. (January 2021). OSTEOPOROSE SECONDAIRE EN PEDIATRIE : Recommandations [Paper presentation]. Réunion MARGOS (maladies rares génétiques et osseuses). |
![]() ![]() | HARVENGT, J., ALKAN, S., Florkin, B., BULK, S., & Bours, V. (June 2020). POP1-Skeletal dysplasias : description of two new families [Poster presentation]. European Human Genetics Virtual Conference 2020. |
![]() ![]() | Rice, G. I., DEBRAY, F.-G., HARVENGT, J., BARREA, C., & Crow, Y. (2020). Genetic and phenotypic spectrum associated with IFIH1 gain-of-function. Human Mutation. doi:10.1002/humu.23975 ![]() |
![]() ![]() | HARVENGT, J., GERNAY, C., Mastouri, M., FARHAT, N., LEBRETHON, M.-C., Seghaye, M.-C., & Bours, V. (2020). ROHHAD(NET) Syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis. Journal of Clinical Endocrinology and Metabolism. doi:10.1210/clinem/dgaa247 ![]() |
![]() ![]() | HARVENGT, J., Boros, E., BULK, S., & Bours, V. (15 March 2019). COL1A2 mutation in a case of isolated short stature [Poster presentation]. 19th Annual Meeting of the Belgian Society of Human Genetics, Liège, Belgium. |
![]() ![]() | JAMAR, M., HARVENGT, J., D'OTREPPE DE BOUVETTE, S., Florkin, B., & MENTEN, C. (September 2018). Diagnostic moléculaire par CGH-array + SNP d'un cas d'Anémie de Fanconi [Poster presentation]. XXIVe Colloque Association des Cytogénéticiens de Langue Française (ACLF), Saint-Malo, France. |
![]() ![]() | VALDES SOCIN, H. G., HARVENGT, J., Pintiaux, A., JONAS, C., PARENT, A.-S., Geenen, V., CORMAN, V., DEBRAY, F.-G., Dideberg, V., T'sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., Burlacu, C., VROONEN, L., Bours, V., ... Beckers, A. (September 2018). Etude multicentrique belge chez 56 patients avec hypogonadisme hypogonadotrope congénital (HHC) : caractérisation des anomalies génétiques et cérébrales [Poster presentation]. 35ème Congrès de la Société Française d'Endocrinologie, Nancy, France. |
![]() ![]() | VALDES SOCIN, H. G., Debray, F.-G., HARVENGT, J., LIBIOULLE, C., DIDEBERG, V., Bours, V., & Beckers, A. (September 2018). CHD7 impliqué dans l'hypogonadisme hypogonadotrope avec ou sans anosmie : description de 3 patients et de 3 nouvelles mutations [Poster presentation]. 35ème Congrès de la Société Française d'Endocrinologie, Nancy, France. |
![]() ![]() | BARREA, C., VAESSEN, S., BULK, S., HARVENGT, J., & Misson, J.-P. (2018). Phenotype-genotype correlation in children with neurofibromatosis type 1. Neuropediatrics. doi:10.1055/s-0037-1620239 ![]() |
![]() ![]() | VALDES SOCIN, H. G., LIBIOULLE, C., HARVENGT, J., PINTIAUX, A., JONAS, C., Parent, A.-S., GEENEN, V., CORMAN, V., Debray, F.-G., DIDEBERG, V., T'Sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., Bours, V., Maiter, D., & Beckers, A. (May 2018). The first Belgian series of 56 patients with congenital hypogonadotropic hypogonadism (CHH) : genetics and brain abnormalities [Poster presentation]. 20th European Congress of Endocrinology. |
![]() ![]() | VALDES SOCIN, H. G., LIBIOULLE, C., HARVENGT, J., Pintiaux, A., JONAS, C., PARENT, A.-S., GEENEN, V., CORMAN, V., Debray, F.-G., DIDEBERG, V., T'Sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., BOURS, V., Maiter, D., & BECKERS, A. (2018). Brain imaging and genetics in patients with congenital hypogonadotropic hypogonadism: a multicenter Belgian study. In J. O. Jorgensen, NENEG Abstract Book Communications (pp. 64). Aarhus, Denmark: Pfizer. ![]() |
![]() ![]() | HARVENGT, J., Schierloh, U., BULK, S., & PIERQUIN, G. (16 February 2018). Post axial polydactyly : isolated symptom or part of a syndrome. A case of BBS8 with two novel molecular anomalies [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
![]() ![]() | HARVENGT, J., LIBIOULLE, C., Debray, F.-G., DIDEBERG, V., Bours, V., & VALDES SOCIN, H. G. (16 February 2018). Brain MRI abnormalities and genetic results in a series of 30 patients with congenital isolated hypogonadotrophic hypogonadism (CIHH) [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
![]() ![]() | HARVENGT, J., SAGOT, C., Decortis, T., Damry, N., Rondia, CABERG, J.-H., Bours, V., & BULK, S. (27 May 2017). A tale of two anomalies. A paternal duplication and a maternal deletion of 15q13 [Poster presentation]. European Human Genetics Conference, Copenhague, Denmark. |
![]() ![]() | HARVENGT, J., boizeau, P., chevenne, D., zenaty, D., paulsen, A., simon, D., guilmin-crepon, S., alberti, C., carel, J.-C., & léger, J. (June 2015). Triiodothyronine-predominant Graves’ disease in childhood: detection and therapeutic implications. European Journal of Endocrinology, 172 (6), 715-723. doi:10.1530/EJE-14-0959 ![]() |
![]() ![]() | Barrea, C., HARVENGT, J., LEBRETHON, M.-C., Poirrier, R., & Seghaye, M.-C. (January 2015). JAWAC evolving technologies to study sleep disturbance in obese adolescents - a preliminary study. Tijdschrift van de Belgische Kinderarts, 17 (1), 107. ![]() |
![]() ![]() | Guffins, A., HARVENGT, J., LUYCKX, F., ANDRIS, C., Seghaye, M.-C., & LEBRETHON, M.-C. (January 2015). Autoimmune thyroid diseases in early childhood three case reports. Tijdschrift van de Belgische Kinderarts, 17 (1), 41. ![]() |
![]() ![]() | DEWANDRE, A.-C., HARVENGT, J., LAGASSE, C., PARENT, A.-S., BOURGUIGNON, J.-P., Seghaye, M.-C., Cloes, M., & LEBRETHON, M.-C. (January 2015). Promotion of physical activity among children and adolescents followed for overweight or obesity in. Tijdschrift van de Belgische Kinderarts, 17 (1), 40. ![]() |
![]() ![]() | HARVENGT, J., wanty, C., De Paepe, B., Sempoux, C., Revencu, N., Smet, J., VanCoster, R., Lissens, W., Seneca, S., WEEKERS, L., Sokal, E., & DEBRAY, F.-G. (2014). Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease. Molecular Genetics and Metabolism Reports. doi:10.1016/j.ymgmr.2014.04.006 ![]() |
![]() ![]() | HARVENGT, J., Wanty, C., Lissens, W., Seneca, S., revencu, N., sokal, E., & Debray, F.-G. (14 June 2013). Multiple pitfalls in the diagnosis of a complex liver disease [Paper presentation]. Metabolics.be. |
![]() ![]() | HARVENGT, J., de HALLEUX, V., GUIDI, O., Rausin, L., DETREMBLEUR, N., Goyens, P., GAILLEZ, S., & Debray, F.-G. (19 March 2011). Neonatal cirrhosis without iron overload: congenital alloimmune hepatitis [Paper presentation]. Société belge de pédiatrie, Bruxelles, Belgium. |
![]() ![]() | HARVENGT, J., DEBRAY, F.-G., LEBRETHON, M.-C., BOURGUIGNON, J.-P., & RICHELLE, C. (2011). Comment j'explore les hypoglycémies chez l'enfant : à propos de deux cas. Revue Médicale de Liège, 66 (12), 631-635. ![]() |
![]() ![]() | HARVENGT, J., Retz, M.-C., Foidart, J.-M., Bourguignon, J.-P., & LEBRETHON, M.-C. (2011). De l'utilité d'une consultation conjointe de gynécologie- endocrinologie pédiatrique : étude rétrospective des motifs de consultation et approche pratique. Revue Médicale de Liège, 66 (11), 581-8. ![]() |
![]() ![]() | HARVENGT, J., LEBRETHON, M.-C., leroy, P., SEGHAYE, M.-C., goyens, P., & Debray, F.-G. (March 2010). HYPERINSULINISM-HYPERAMMONEMIA: AN UNUSUAL CAUSE OF HYPOKETOTIC HYPOGLYCEMIA [Poster presentation]. Société belge de pédiatrie. |
![]() ![]() | HARVENGT, J., poskin, J., etienne, I., Misson, J.-P., & guidi, O. (March 2009). Glucose-galactose transporter DEFICIENCY: a diagnosis based on clinical observations [Poster presentation]. société belge de pédiatrie. |