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Author/Creator Colleaux, L

1. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. Issue 9 (6th January 2009)

Authors:
Malan, V; Raoul, O; Firth, H V; Royer, G; Turleau, C; Bernheim, A; Willatt, L; Munnich, A; Vekemans, M; Lyonnet, S; Cormier-Daire, V; Colleaux, L
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 9(2009)
Page Start:
635
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Issue 2 (17th December 2011)

Authors:
Molin, A-M; Andrieux, J; Koolen, D A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; de Leeuw, N; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, A C; Le Caignec, C; Ogilvie, C Mackie; Maia, S; Mathieu-Dramard, M
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
104
Record Type:
Journal Article
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3. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Issue 11 (13th July 2006)

Authors:
Jacquemont, M-L; Sanlaville, D; Redon, R; Raoul, O; Cormier-Daire, V; Lyonnet, S; Amiel, J; Le Merrer, M; Heron, D; de Blois, M-C; Prieur, M; Vekemans, M; Carter, N P; Munnich, A; Colleaux, L; Philippe, A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 11(2006)
Page Start:
843
Record Type:
Journal Article
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4. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. Issue 4 (1st April 2002)

Authors:
Rio, M; Molinari, F; Heuertz, S; Ozilou, C; Gosset, P; Raoul, O; Cormier-Daire, V; Amiel, J; Lyonnet, S; Le Merrer, M; Turleau, C; de Blois, M-C; Prieur, M; Romana, S; Vekemans, M; Munnich, A; Colleaux, L
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 4(2002)
Page Start:
266
Record Type:
Journal Article
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8. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. Issue 4 (1st April 2004)

Authors:
Shaw-Smith, C; Redon, R; Rickman, L; Rio, M; Willatt, L; Fiegler, H; Firth, H; Sanlaville, D; Winter, R; Colleaux, L; Bobrow, M; Carter, N P
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 4(2004)
Page Start:
241
Record Type:
Journal Article
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9. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. Issue 6 (3rd June 2010)

Authors:
Bonnet, C; Andrieux, J; Béri-Dexheimer, M; Leheup, B; Boute, O; Manouvrier, S; Delobel, B; Copin, H; Receveur, A; Mathieu, M; Thiriez, G; Le Caignec, C; David, A; de Blois, M C; Malan, V; Philippe, A; Cormier-Daire, V; Colleaux, L; Flori, E; Dollfus, H
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 6(2010)
Page Start:
377
Record Type:
Journal Article
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10. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. Issue 12 (29th July 2009)

Authors:
Willems, M; Geneviève, D; Borck, G; Baumann, C; Baujat, G; Bieth, E; Edery, P; Farra, C; Gerard, M; Héron, D; Leheup, B; Le Merrer, M; Lyonnet, S; Martin-Coignard, D; Mathieu, M; Thauvin-Robinet, C; Verloes, A; Colleaux, L; Munnich, A; Cormier-Daire, V
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 12(2010)
Page Start:
797
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗