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Author/Creator Mignot, C.

1. A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. Issue 1 (December 2016)

Authors:
Sabry, S.; Vuillaumier-Barrot, S.; Mintet, E.; Fasseu, M.; Valayannopoulos, V.; Héron, D.; Dorison, N.; Mignot, C.; Seta, N.; Chantret, I.; Dupré, T.; Moore, S.
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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2. Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication. (June 2017)

Authors:
Billette de Villemeur, T.; Valence, S.; Heron, D.; Heide, S.; Keren, B.; Nava, C.; des Portes, V.; Garel, C.; Blondiaux, E.; Afenjar, A.; Mignot, C.; Rastetter, A.; Depienne, C.; Moutard, M.-L.
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e43
Record Type:
Journal Article
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3. Deciphering the natural history of SCA7 in children. (23rd July 2020)

Authors:
Bah, M. G.; Rodriguez, D.; Cazeneuve, C.; Mochel, F.; Devos, D.; Suppiej, A.; Roubertie, A.; Meunier, I.; Gitiaux, C.; Curie, A.; Klapczynski, F.; Allani‐Essid, N.; Carneiro, M.; Van Minkelen, R.; Kievit, A.; Fluss, J.; Leheup, B.; Ratbi, L.; Héron, D.; Gras, D.
Journal:
European journal of neurology
Issue:
Volume 27:Number 11(2020)
Page Start:
2267
Record Type:
Journal Article
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5. NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder. Issue 2 (10th July 2018)

Authors:
Lévy, J.; Grotto, S.; Mignot, C.; Maruani, A.; Delahaye‐Duriez, A.; Benzacken, B.; Keren, B.; Haye, D.; Xavier, J.; Heulin, M.; Charles, E.; Verloes, A.; Dupont, C.; Pipiras, E.; Tabet, A.‐C.
Journal:
Clinical genetics
Issue:
Volume 94:Issue 2(2018)
Page Start:
264
Record Type:
Journal Article
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6. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56. (31st March 2021)

Authors:
Legrand, A.; Pujol, C.; Durand, C. M.; Mesnil, A.; Rubera, I.; Duranton, C.; Zuily, S.; Sousa, A. B.; Renaud, M.; Boucher, J. L.; Pietrancosta, N.; Adham, S.; Orssaud, C.; Marelli, C.; Casali, C.; Ziccardi, L.; Villain, N.; Ewenczyk, C.; Durr, A.; Mignot, C.
Journal:
Journal of internal medicine
Issue:
Volume 289:Number 5(2021)
Page Start:
709
Record Type:
Journal Article
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7. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Issue 3 (4th October 2017)

Authors:
Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.‐L.; Guët, A.; Xavier, J.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 3(2018)
Page Start:
567
Record Type:
Journal Article
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8. Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Issue 2 (30th July 2015)

Authors:
Dimassi, S.; Labalme, A.; Ville, D.; Calender, A.; Mignot, C.; Boutry‐Kryza, N.; de Bellescize, J.; Rivier‐Ringenbach, C.; Bourel‐Ponchel, E.; Cheillan, D.; Simonet, T.; Maincent, K.; Rossi, M.; Till, M.; Mougou‐Zerelli, S.; Edery, P.; Saad, A.; Heron, D.; des Portes, V.; Sanlaville, D.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 2(2016)
Page Start:
198
Record Type:
Journal Article
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