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Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
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
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P.
Vezain M, et al. Among authors: trestard l.
Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5.
Acta Neuropathol Commun. 2018.
PMID: 30340542
Free PMC article.
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Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A.
Pirot N, et al. Among authors: trestard l.
J Neuropathol Exp Neurol. 2016 Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9.
J Neuropathol Exp Neurol. 2016.
PMID: 26865159
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J.
Laquerriere A, et al. Among authors: trestard l.
J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5.
J Med Genet. 2022.
PMID: 33820833
Free PMC article.
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Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.
Chadie A, Radi S, Trestard L, Charollais A, Eurin D, Verspyck E, Marret S; Haute-Normandie Perinatal Network.
Chadie A, et al. Among authors: trestard l.
Acta Paediatr. 2008 Apr;97(4):420-4. doi: 10.1111/j.1651-2227.2008.00688.x. Epub 2008 Feb 27.
Acta Paediatr. 2008.
PMID: 18307547
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.
Laquérriere A, et al. Among authors: trestard l.
Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.
Hum Mol Genet. 2014.
PMID: 24319099
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Congenital rubella with bilateral cataract detected at 5 weeks.
Lardennois C, Radi-Bencteux S, Trestard L, Marret S, Grangeot-Keros L, Buffet-Janvresse C.
Lardennois C, et al. Among authors: trestard l.
Acta Paediatr. 2004 Nov;93(11):1550. doi: 10.1080/08035250410033907.
Acta Paediatr. 2004.
PMID: 15513590
No abstract available.
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[The nutrition of the newborn en neonatal medicine].
Fie L, Legourd G, Lardennois C, Radi-Bencteux S, Trestard L.
Fie L, et al. Among authors: trestard l.
Soins Pediatr Pueric. 2005 Oct;(226):34-6.
Soins Pediatr Pueric. 2005.
PMID: 16305035
French.
No abstract available.
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