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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: burguet a. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
Variation in follow-up for children born very preterm in Europe.
Seppänen AV, Barros H, Draper ES, Petrou S, Andronis L, Kim S, Maier RF, Pedersen P, Gadzinowski J, Pierrat V, Sarrechia I, Lebeer J, Ådén U, Toome L, Thiele N, van Heijst A, Cuttini M, Zeitlin J; SHIPS Research Group. Seppänen AV, et al. Eur J Public Health. 2024 Feb 5;34(1):91-100. doi: 10.1093/eurpub/ckad192. Eur J Public Health. 2024. PMID: 37978865 Free PMC article.
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D. Courcet JB, et al. Among authors: burguet a. J Pediatr. 2013 Sep;163(3):742-6. doi: 10.1016/j.jpeds.2013.02.032. Epub 2013 Mar 25. J Pediatr. 2013. PMID: 23535010
Cerebral palsy among very preterm children in relation to gestational age and neonatal ultrasound abnormalities: the EPIPAGE cohort study.
Ancel PY, Livinec F, Larroque B, Marret S, Arnaud C, Pierrat V, Dehan M, N'Guyen S, Escande B, Burguet A, Thiriez G, Picaud JC, André M, Bréart G, Kaminski M; EPIPAGE Study Group. Ancel PY, et al. Among authors: burguet a. Pediatrics. 2006 Mar;117(3):828-35. doi: 10.1542/peds.2005-0091. Pediatrics. 2006. PMID: 16510664
Behavioral outcome at 3 years of age in very preterm infants: the EPIPAGE study.
Delobel-Ayoub M, Kaminski M, Marret S, Burguet A, Marchand L, N'Guyen S, Matis J, Thiriez G, Fresson J, Arnaud C, Poher M, Larroque B; EPIPAGE Study Group. Delobel-Ayoub M, et al. Among authors: burguet a. Pediatrics. 2006 Jun;117(6):1996-2005. doi: 10.1542/peds.2005-2310. Pediatrics. 2006. PMID: 16740841
124 results