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Prenatal revelation of Niemann-Pick disease type C in siblings.
Moreno R, Lardennois C, Drouin-Garraud V, Verspyck E, Marret S, Laquerrière A. Moreno R, et al. Among authors: laquerriere a. Acta Paediatr. 2008 Aug;97(8):1136-9. doi: 10.1111/j.1651-2227.2008.00829.x. Epub 2008 Jun 28. Acta Paediatr. 2008. PMID: 18554276
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM. Tessier A, et al. Among authors: laquerriere a. Prenat Diagn. 2016 Dec;36(13):1270-1275. doi: 10.1002/pd.4971. Epub 2016 Dec 9. Prenat Diagn. 2016. PMID: 27859469 Review.
Meckel-Grüber syndrome: sonography and pathology.
Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, Laquerrière A, Avni EF. Ickowicz V, et al. Among authors: laquerriere a. Ultrasound Obstet Gynecol. 2006 Mar;27(3):296-300. doi: 10.1002/uog.2708. Ultrasound Obstet Gynecol. 2006. PMID: 16450359 Free article.
Goldenhar syndrome and neuroblastoma: a chance association?
Michel-Adde C, Laquerrière A, Eurin D, Drouin-Garraud V, Marret S. Michel-Adde C, et al. Among authors: laquerriere a. Acta Paediatr. 2003 Oct;92(10):1223-5. doi: 10.1080/08035250310005729. Acta Paediatr. 2003. PMID: 14632345
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Sudrié-Arnaud B, Marguet F, Patrier S, Martinovic J, Louillet F, Broux F, Charbonnier F, Dranguet H, Coutant S, Vezain M, Lanos R, Tebani A, Fuller M, Lamari F, Chambon P, Brehin AC, Trestard L, Tournier I, Marret S, Verspyck E, Laquerrière A, Bekri S. Sudrié-Arnaud B, et al. Among authors: laquerriere a. Clin Chim Acta. 2018 Jun;481:1-8. doi: 10.1016/j.cca.2018.02.023. Epub 2018 Feb 22. Clin Chim Acta. 2018. PMID: 29476731
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A. Saugier-Veber P, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. Acta Neuropathol Commun. 2017. PMID: 28460636 Free PMC article.
260 results