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Author/Creator Chelly, J

1. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. Issue 4 (16th September 2005)

Authors:
Lugtenberg, D; de Brouwer, A P M; Kleefstra, T; Oudakker, A R; Frints, S G M; Schrander-Stumpel, C T R M; Fryns, J P; Jensen, L R; Chelly, J; Moraine, C; Turner, G; Veltman, J A; Hamel, B C J; de Vries, B B A; van Bokhoven, H; Yntema, H G
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 4(2006)
Page Start:
362
Record Type:
Journal Article
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2. Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. Issue 3 (March 1997)

Authors:
des Portes, V; Pinard, J M; Smadja, D; Motte, J; Boespflüg-Tanguy, O; Moutard, M L; Desguerre, I; Billuart, P; Carrie, A; Bienvenu, T; Vinet, M C; Bachner, L; Beldjord, C; Dulac, O; Kahn, A; Ponsot, G; Chelly, J
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 3(1997)
Page Start:
177
Record Type:
Journal Article
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4. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. Issue 10 (30th September 2005)

Authors:
Laumonnier, F; Holbert, S; Ronce, N; Faravelli, F; Lenzner, S; Schwartz, C E; Lespinasse, J; Van Esch, H; Lacombe, D; Goizet, C; Phan-Dinh Tuy, F; van Bokhoven, H; Fryns, J-P; Chelly, J; Ropers, H-H; Moraine, C; Hamel, B C J; Briault, S
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 10(2005)
Page Start:
780
Record Type:
Journal Article
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5. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. Issue 11 (6th July 2007)

Authors:
Saillour, Y; Zanni, G; Des Portes, V; Heron, D; Guibaud, L; Iba-Zizen, M T; Pedespan, J L; Poirier, K; Castelnau, L; Julien, C; Franconnet, C; Bonthron, D; Porteous, M E; Chelly, J; Bienvenu, T
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 11(2007)
Page Start:
739
Record Type:
Journal Article
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7. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. Issue 10 (26th August 2008)

Authors:
Bahi-Buisson, N; Poirier, K; Boddaert, N; Saillour, Y; Castelnau, L; Philip, N; Buyse, G; Villard, L; Joriot, S; Marret, S; Bourgeois, M; Van Esch, H; Lagae, L; Amiel, J; Hertz-Pannier, L; Roubertie, A; Rivier, F; Pinard, J M; Beldjord, C; Chelly, J
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 10(2008)
Page Start:
647
Record Type:
Journal Article
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8. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. Issue 5 (30th April 2004)

Authors:
Kleefstra, T; Yntema, H G; Oudakker, A R; Banning, M J G; Kalscheuer, V M; Chelly, J; Moraine, C; Ropers, H-H; Fryns, J-P; Janssen, I M; Sistermans, E A; Nillesen, W N; de Vries, L B A; Hamel, B C J; van Bokhoven, H
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 5(2004)
Page Start:
394
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗