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Author/Creator Rio, M

1. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. Issue 1 (23rd October 2010)

Authors:
Lebre, A S; Rio, M; Faivre d'Arcier, L; Vernerey, D; Landrieu, P; Slama, A; Jardel, C; Laforêt, P; Rodriguez, D; Dorison, N; Galanaud, D; Chabrol, B; Paquis-Flucklinger, V; Grévent, D; Edvardson, S; Steffann, J; Funalot, B; Villeneuve, N; Valayannopoulos, V; de Lonlay, P
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 1(2011)
Page Start:
16
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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations. Issue 7 (1st May 2014)

Authors:
Bricout, M; Grévent, D; Lebre, A S; Rio, M; Desguerre, I; De Lonlay, P; Valayannopoulos, V; Brunelle, F; Rötig, A; Munnich, A; Boddaert, N
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 7(2014)
Page Start:
429
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. 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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Available online (eLD content is only available in our Reading Rooms) ↗

10. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?. Issue 2 (2nd February 2005)

Authors:
Redon, R; Rio, M; Gregory, S G; Cooper, R A; Fiegler, H; Sanlaville, D; Banerjee, R; Scott, C; Carr, P; Langford, C; Cormier-Daire, V; Munnich, A; Carter, N P; Colleaux, L
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 2(2005)
Page Start:
166
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗