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Author/Creator Rio, M.

1. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. Issue 5 (3rd February 2016)

Authors:
Nizon, M.; Henry, M.; Michot, C.; Baumann, C.; Bazin, A.; Bessières, B.; Blesson, S.; Cordier‐Alex, M.‐P.; David, A.; Delahaye‐Duriez, A.; Delezoïde, A.‐L.; Dieux‐Coeslier, A.; Doco‐Fenzy, M.; Faivre, L.; Goldenberg, A.; Layet, V.; Loget, P.; Marlin, S.; Martinovic, J.; Odent, S.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 5(2016)
Page Start:
584
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Electro-clinical features in epileptic children with chromosome 15q duplication syndrome. Issue 5 (May 2021)

Authors:
Dangles, M.-T.; Malan, V.; Dumas, G.; Romana, S.; Raoul, O.; Coste-Zeitoun, D.; Soufflet, C.; Vignolo-Diard, P.; Bahi-Buisson, N.; Barnérias, C.; Chemaly, N.; Desguerre, I.; Gitiaux, C.; Hully, M.; Bourgeois, M.; Guimier, A.; Rio, M.; Munnich, A.; Nabbout, R.; Kaminska, A.
Journal:
Clinical neurophysiology
Issue:
Volume 132:Issue 5(2021)
Page Start:
1126
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Issue 2 (1st March 2017)

Authors:
Nambot, S.; Gavrilov, D.; Thevenon, J.; Bruel, A.L.; Bainbridge, M.; Rio, M.; Goizet, C.; Rötig, A.; Jaeken, J.; Niu, N.; Xia, F.; Vital, A.; Houcinat, N.; Mochel, F.; Kuentz, P.; Lehalle, D.; Duffourd, Y.; Rivière, J.B.; Thauvin‐Robinet, C.; Beaudet, A.L.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 2(2017)
Page Start:
188
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Issue 3 (18th May 2017)

Authors:
Lehman, N.; Mazery, A.C.; Visier, A.; Baumann, C.; Lachesnais, D.; Capri, Y.; Toutain, A.; Odent, S.; Mikaty, M.; Goizet, C.; Taupiac, E.; Jacquemont, M.L.; Sanchez, E.; Schaefer, E.; Gatinois, V.; Faivre, L.; Minot, D.; Kayirangwa, H.; Sang, K.‐H.L.Q.; Boddaert, N.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 3(2017)
Page Start:
298
Record Type:
Journal Article
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5. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes. (26th March 2014)

Authors:
Piard, J.; Aral, B.; Vabres, P.; Holder‐Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; Pierquin, G.; Callier, P.; Baumann, C.; Pasquier, L.; Baujat, G.; Martorell, L.; Rodriguez, A.; Brady, A. F.; Boralevi, F.; González‐Enseñat, M. A.; Rio, M.; Bodemer, C.; Philip, N.
Journal:
Clinical genetics
Issue:
Volume 87:Number 3(2015:Mar.)
Page Start:
244
Record Type:
Journal Article
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6. WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors. (June 2017)

Authors:
Cavallin, M.; Rujano, Maria A.; Bednarek, N.; Medina-Cano, D.; Bernabe Gelot, A.; Drunat, S.; Maillard, C.; Nitschké, P.; Beneteau, C.; Poirier, K.; Rio, M.; Boddaert, N.; Passemard, S.; Baffet, A.; Thomas, S.; Bahi-Buisson, N.
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e84
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗