Fiche personne


Coordonnées

Laboratoire de génétique chromosomique et moléculaire
Plateau technique de Biologie
CHU de Dijon
2 rue Angélique Ducoudray
BP 37013
21070 DIJON Cedex

03 80 29 34 89

Territoire

Bourgogne

Statut

Hospitalo-Universitaire

Recherche

Expertises :
- Clinique:Génétique Médicale

Publications


The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T

Clin Genet. 2024 12 29;:

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.

Sjøstrøm E, Bruel AL, Philippe C, Delanne J, Faivre L, Menke LA, Au PYB, Cormick JJ, Moosa S, Bayat A

Clin Genet. 2024 11 27;:

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC, ,,,de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C

Eur J Hum Genet. 2024 10 24;:

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