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243 results

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Page 1
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V. Coolen M, et al. Among authors: garel c. Am J Hum Genet. 2022 May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. Am J Hum Genet. 2022. PMID: 35390279 Free PMC article.
Prenatal ultrasonographic diagnosis of polymicrogyria.
Dhombres F, Nahama-Allouche C, Gelot A, Jouannic JM, de Villemeur TB, Saint-Frison MH, le Pointe HD, Garel C. Dhombres F, et al. Among authors: garel c. Ultrasound Obstet Gynecol. 2008 Dec;32(7):951-4. doi: 10.1002/uog.6251. Ultrasound Obstet Gynecol. 2008. PMID: 18991326 Free article.
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Guimiot F, et al. Among authors: garel c. Am J Med Genet A. 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859. Am J Med Genet A. 2009. PMID: 19449422
Correlation between pre- and postnatal cerebral magnetic resonance imaging.
Dhouib A, Blondiaux E, Moutard ML, Billette de Villemeur T, Chalard F, Jouannic JM, Ducou le Pointe H, Garel C. Dhouib A, et al. Among authors: garel c. Ultrasound Obstet Gynecol. 2011 Aug;38(2):170-8. doi: 10.1002/uog.8937. Epub 2011 Jul 15. Ultrasound Obstet Gynecol. 2011. PMID: 21240911 Free article.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: garel c. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)-SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale). Teixeira SR, et al. Among authors: garel c. Prenat Diagn. 2015 Apr;35(4):337-41. doi: 10.1002/pd.4543. Epub 2015 Jan 5. Prenat Diagn. 2015. PMID: 25475607
243 results