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Author/Creator Odent, S

1. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?. Issue 12 (23rd September 2008)

Authors:
Jaillard, S; Dubourg, C; Gérard-Blanluet, M; Delahaye, A; Pasquier, L; Dupont, C; Henry, C; Tabet, A-C; Lucas, J; Aboura, A; David, V; Benzacken, B; Odent, S; Pipiras, E
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 12(2009)
Page Start:
847
Record Type:
Journal Article
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2. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. Issue 5 (30th April 2004)

Authors:
Pinson, L; Augé, J; Audollent, S; Mattéi, G; Etchevers, H; Gigarel, N; Razavi, F; Lacombe, D; Odent, S; Le Merrer, M; Amiel, J; Munnich, A; Meroni, G; Lyonnet, S; Vekemans, M; Attié-Bitach, T
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 5(2004)
Page Start:
381
Record Type:
Journal Article
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4. First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. Issue 1 (5th January 2005)

Authors:
Pasquier, L; Dubourg, C; Gonzales, M; Lazaro, L; David, V; Odent, S; Encha-Razavi, F
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 1(2005)
Page Start:
e4
Record Type:
Journal Article
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8. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (18th March 2013)

Authors:
Callier, P; Aral, B; Hanna, N; Lambert, S; Dindy, H; Ragon, C; Payet, M; Collod‐Beroud, G; Carmignac, V; Delrue, MA; Goizet, C; Philip, N; Busa, T; Dulac, Y; Missotte, I; Sznajer, Y; Toutain, A; Francannet, C; Megarbane, A; Julia, S
Journal:
Clinical genetics
Issue:
Volume 84:Number 6(2013:Dec.)
Page Start:
507
Record Type:
Journal Article
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9. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. Issue 3 (1st March 2003)

Authors:
Chol, M; Lebon, S; Bénit, P; Chretien, D; de Lonlay, P; Goldenberg, A; Odent, S; Hertz-Pannier, L; Vincent-Delorme, C; Cormier-Daire, V; Rustin, P; Rötig, A; Munnich, A
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 3(2003)
Page Start:
188
Record Type:
Journal Article
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10. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Issue 2 (20th January 2006)

Authors:
Pasquier, L; Laugel, V; Lazaro, L; Dollfus, H; Journel, H; Edery, P; Goldenberg, A; Martin, D; Heron, D; Le Merrer, M; Rustin, P; Odent, S; Munnich, A; Sarasin, A; Cormier-Daire, V
Journal:
Archives of disease in childhood
Issue:
Volume 91:Issue 2(2006)
Page Start:
178
Record Type:
Journal Article
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