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114 results

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Page 1
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L. Melo US, et al. Among authors: piard j. Hum Genet. 2021 Oct;140(10):1459-1469. doi: 10.1007/s00439-021-02344-6. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34436670 Free PMC article.
Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.
Ekmen A, Doulazmi M, Méneret A, Jegatheesan P, Hervé A, Damier P, Gras D, Roubertie A, Piard J, Mutez E, Tarrano C, Welniarz Q, Vidailhet M, Worbe Y, Gallea C, Roze E. Ekmen A, et al. Among authors: piard j. Mov Disord Clin Pract. 2023 Jun 5;10(7):1082-1089. doi: 10.1002/mdc3.13795. eCollection 2023 Jul. Mov Disord Clin Pract. 2023. PMID: 37476308 Free PMC article.
Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis.
Ramanah R, Martin A, Guigue V, Arbez-Gindre F, Piard J, Terrosi P, Alanio E, Favre R, Gaillard D, Riethmuller D. Ramanah R, et al. Among authors: piard j. Ultrasound Obstet Gynecol. 2012 Dec;40(6):724-5. doi: 10.1002/uog.11146. Epub 2012 Nov 15. Ultrasound Obstet Gynecol. 2012. PMID: 22374821 Free article. No abstract available.
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N. Miyake N, et al. Among authors: piard j. Am J Med Genet A. 2016 Oct;170(10):2662-70. doi: 10.1002/ajmg.a.37778. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264538
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. Windpassinger C, et al. Among authors: piard j. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. Am J Hum Genet. 2017. PMID: 28886341 Free PMC article.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C. De Tomasi L, et al. Among authors: piard j. Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026. Am J Hum Genet. 2017. PMID: 29100091 Free PMC article.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF. Piard J, et al. Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426. Hum Mol Genet. 2018. PMID: 29267967 Free PMC article.
114 results