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Page 1
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Among authors: delezoide al. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.
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: delezoide al. 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
Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.
Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A. Guilherme R, et al. Among authors: delezoide al. Am J Med Genet A. 2009 Dec;149A(12):2892-7. doi: 10.1002/ajmg.a.33135. Am J Med Genet A. 2009. PMID: 19938079 No abstract available.
Aphallia, lung agenesis and multiple defects of blastogenesis.
Gérard-Blanluet M, Lambert V, Khung-Savatovsky S, Perrin-Sabourin L, Passemard S, Baumann C, Delezoide AL, Verloes A. Gérard-Blanluet M, et al. Among authors: delezoide al. Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698. Fetal Pediatr Pathol. 2011. PMID: 21204662
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F. Quelin C, et al. Among authors: delezoide al. Am J Med Genet A. 2014 Oct;164A(10):2504-9. doi: 10.1002/ajmg.a.36658. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975584
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E. Delahaye A, et al. Among authors: delezoide al. Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903608
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: delezoide al. 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.
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.
Levaillant JM, Moeglin D, Zouiten K, Bucourt M, Burglen L, Soupre V, Baumann C, Jaquemont ML, Touraine R, Picard A, Vuillard E, Belarbi N, Oury JF, Verloes A, Vazquez MP, Labrune P, Delezoide AL, Gérard-Blanluet M. Levaillant JM, et al. Among authors: delezoide al. Prenat Diagn. 2009 Feb;29(2):140-50. doi: 10.1002/pd.2167. Prenat Diagn. 2009. PMID: 19156647
215 results