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Chatelain Camille

Unilab > Service de génétique

See author's contact details
ORCID
0009-0008-4731-2163
Main Referenced Co-authors
Bulk, Saskia  (5)
Harvengt, Julie  (4)
Bours, Vincent  (3)
Fudvoye, Julie  (3)
Deberg, Michelle  (2)
Main Referenced Keywords
Female (3); Humans (3); Male (3); Child (2); DNA-Binding Proteins (2);
Main Referenced Disciplines
Pediatrics (3)
Neurology (2)
Genetics & genetic processes (2)
Cardiovascular & respiratory systems (1)
Endocrinology, metabolism & nutrition (1)

Publications (total 9)

The most downloaded
33 downloads
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). https://hdl.handle.net/2268/328282

The most cited

1 citations (OpenAlex)

Pantiru, A. D., Van de Sompele, S., Ligneul, C., Chatelain, C., Barrea, C., Lerch, J. P., Filippi, B. M., Alkan, S., De Baere, E., Johnston, J., & Clapcote, S. J. (27 February 2025). Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Molecular Autism, 16 (1), 14. doi:10.1186/s13229-025-00650-8 https://hdl.handle.net/2268/329268

Lorquet, S., Chatelain, C., Laterre, M., Fudvoye, J., SENTERRE, A., Vanwynsberghe, A., DEBERG, M., Gatot, J.-S., Bulk, S., & Harvengt, J. (April 2025). Cas clinique. Mise au point diagnostique d’une discordance de sexe fœtal à l’ère du dépistage prénatal non invasif génomique. Revue Médicale de Liège, 80 (4), 208 - 213.
Editorial Reviewed verified by ORBi

Pantiru, A. D., Van de Sompele, S., Ligneul, C., Chatelain, C., Barrea, C., Lerch, J. P., Filippi, B. M., Alkan, S., De Baere, E., Johnston, J., & Clapcote, S. J. (27 February 2025). Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Molecular Autism, 16 (1), 14. doi:10.1186/s13229-025-00650-8
Peer Reviewed verified by ORBi

Chatelain, C., KUKOR, L., Bailleux, S., Bours, V., Bulk, S., & Docampo Martínez, E. (February 2025). Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature. European Journal of Medical Genetics, 73, 104985. doi:10.1016/j.ejmg.2024.104985
Peer Reviewed verified by ORBi

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.

Chatelain, C., KUKOR, L., BULK, S., Bours, V., & Docampo Martínez, E. (12 April 2024). SKI missense variant c.539C>T p.(Thr180Met), a recurrent variant in Shprintzen-Goldberg syndrome: a case report and review of literature [Poster presentation]. Annual Symposium : Single cells, to care or not to care?, Leuven, Belgium.

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).
Editorial Reviewed verified by ORBi

Chatelain, C. (2023). La drépanocytose [Paper presentation]. Soirée d'information aux patients drépanocytaires, Liège, Belgium.

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.

Chatelain, C. (2020). Dépistage néonatal de l'amyotrophie spinale et traitement présymptomatique [Master’s dissertation, ULiège - Université de Liège]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/316948

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