Biblio

25 resultats trouvés
Filtres: Auteur is Piard, J.  [Clear All Filters]
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De lange I, Helbig K., Weckhuysen S., Moller R., Velinov M., Dolzhanskaya N., Marsh E., Helbig I, Devinsky O., Tang S. et al..  2016.  DE NOVO MUTATIONS OF KIAA2022 IN FEMALES CAUSE INTELLECTUAL DISABILITY AND INTRACTABLE EPILEPSY. EPILEPSIA. 57:113-114.
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Piard J., Moris-Rosendahl D.J, Putoux A., Delplancq G., Cabrol C., J. Goffeney B, Pasquier L., Brischoux-Boucher E., Wollnik B., Yigit G. et al..  2019.  Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:263.
Piard J., Moris-Rosendahl D.J, Putoux A., Delplancq G., Cabrol C., J. Goffeney B, Pasquier L., Brischoux-Boucher E., Wollnik B., Yigit G. et al..  2019.  Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:263.
Popp B., Vasileiou G., Zweier M., Ekici A.B, Moortgat S., Lederer D., Maystadt I., Destree A., Drunat S., Verloes A. et al..  2020.  Exome Pool-Seq Reloaded. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:332-333.
Popp B., Vasileiou G., Zweier M., Ekici A.B, Moortgat S., Lederer D., Maystadt I., Destree A., Drunat S., Verloes A. et al..  2020.  Exome Pool-Seq Reloaded. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:332-333.
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Michot C., Huber C., K. Sang LQuan, Bole C., Nitschke P., Abdalla E., Alessandri J., Baumann C., Bedeschi M., Bieth E. et al..  2018.  Genotype-phenotype correlation in Jeune thoracic dysplasia/short rib-polydactyly type III: review of 130 cases. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:46-47.
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Schaefer E., Baer S., Afenjar A., Smol T., Gerard B., Alembik Y., Bienvenu T., Boute O., Colson C., Cordier M.P et al..  2018.  KMT2A mutation is a major gene inintellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:511-512.
Schaefer E., Baer S., Afenjar A., Smol T., Gerard B., Alembik Y., Bienvenu T., Boute O., Colson C., Cordier M.P et al..  2018.  KMT2A mutation is a major gene inintellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:511-512.
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Mercier S., Kuery S., Magot A., Bodak N., Bou-Hanna C., Cormier-Daire V., David A., Faivre L., Figarella-Branger D., Gherardi R. et al..  2014.  Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis. NEUROMUSCULAR DISORDERS. 24:848.
S. Cohen B, Piard J., Vincenot A., Bertrand M.A, Harroche A., Schlegel N..  2017.  Mutations In The Gene Encoding Filamin A are a Cause of Macrothrombocytopenia: Case Report. HAEMOPHILIA. 23:127-128.
S. Cohen B, Piard J., Vincenot A., Bertrand M.A, Harroche A., Schlegel N..  2017.  Mutations In The Gene Encoding Filamin A are a Cause of Macrothrombocytopenia: Case Report. HAEMOPHILIA. 23:127-128.
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Melo U., Piard J., Klever M., Mensa M., Schoepflin R., Holtgrewe M., Arbez-Gindre F., Guigue V., Gaillard D., Kremer V. et al..  2020.  Neo-TAD formation on 7q36.3 causes lung agenesis in three affected fetuses. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:222-223.
Melo U., Piard J., Klever M., Mensa M., Schoepflin R., Holtgrewe M., Arbez-Gindre F., Guigue V., Gaillard D., Kremer V. et al..  2020.  Neo-TAD formation on 7q36.3 causes lung agenesis in three affected fetuses. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:222-223.
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Piard J., Hawkes L., Milh M., Villard L., Borgatti R., Fradin M., Capri Y., Heron D., Nougues M., Nava C. et al..  2019.  The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:246-247.
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Piard J., Aral B., Vabres P., Holder-Espinasse M., Megarbane A., Gauthier S., Capra V., Pierquin G., Callier P., Baumann C. et al..  2015.  Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. CLINICAL GENETICS. 87:244-251.
Ruaud L., Floettman R., Escande F., Van Maldergem L., Mundlos S., Piard J..  2018.  Split hand/foot malformation associated with 20p12.1 deletion: a case report. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:501-502.
Ruaud L., Floettman R., Escande F., Van Maldergem L., Mundlos S., Piard J..  2018.  Split hand/foot malformation associated with 20p12.1 deletion: a case report. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:501-502.
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Piard J., Hawkes L., Milh M., Villard L., Borgatti R., Fradin M., Capri Y., Heron D., Nougues M., Nava C. et al..  2019.  The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:246-247.
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Cabrol C., Quevarec L., Martin A., Reviron S., Guillermet C., Piard J., Ruaud L., Arbez-Gindre F., Melki J., Van Maldergem L..  2018.  Wieacker-Wolff syndrome in a tenth family. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:449.
Cabrol C., Quevarec L., Martin A., Reviron S., Guillermet C., Piard J., Ruaud L., Arbez-Gindre F., Melki J., Van Maldergem L..  2018.  Wieacker-Wolff syndrome in a tenth family. EUROPEAN JOURNAL OF HUMAN GENETICS. 26:449.
Baer S., Afenjar A., Smol T., Piton A., Gerard B., Alembik Y., Bienvenu T., Boursier G., Boute O., Colson C. et al..  2018.  Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. CLINICAL GENETICS. 94:141-152.
Patat O., Bailleul-Forestier I., Plaisancie J., Bonneau D., Colin E., Colson C., Cordier M., Coubes C., Demurger F., Dieux-Coeslier A. et al..  2019.  WNT10A mutations: refining genotype, phenotype, penetrance, clinical variability and inheritance manner. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:1302-1303.
Patat O., Bailleul-Forestier I., Plaisancie J., Bonneau D., Colin E., Colson C., Cordier M., Coubes C., Demurger F., Dieux-Coeslier A. et al..  2019.  WNT10A mutations: refining genotype, phenotype, penetrance, clinical variability and inheritance manner. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:1302-1303.
Patat O., Bailleul-Forestier I., Plaisancie J., Bonneau D., Colin E., Colson C., Cordier M., Coubes C., Demurger F., Dieux-Coeslier A. et al..  2019.  WNT10A mutations: refining genotype, phenotype, penetrance, clinical variability and inheritance manner. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:1302-1303.
Patat O., Bailleul-Forestier I., Plaisancie J., Bonneau D., Colin E., Colson C., Cordier M., Coubes C., Demurger F., Dieux-Coeslier A. et al..  2019.  WNT10A mutations: refining genotype, phenotype, penetrance, clinical variability and inheritance manner. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:1302-1303.