David V - Search Results

1

Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.

Guyodo H, Rizzo A, Diab F, Noury F, Mironov S, de Tayrac M, David V, Odent S, Dubourg C, Dupé V. Guyodo H, et al. Among authors: david v. Clin Exp Dent Res. 2024 Apr;10(2):e861. doi: 10.1002/cre2.861. Clin Exp Dent Res. 2024. PMID: 38558491 Free PMC article.

2

Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.

Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. Hamdi-Rozé H, et al. Among authors: david v. J Clin Endocrinol Metab. 2020 Sep 1;105(9):dgaa249. doi: 10.1210/clinem/dgaa249. J Clin Endocrinol Metab. 2020. PMID: 32403133 Free article.

3

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.

Kim A, Le Douce J, Diab F, Ferovova M, Dubourg C, Odent S, Dupé V, David V, Diambra L, Watrin E, de Tayrac M. Kim A, et al. Among authors: david v. Brain. 2020 Jul 1;143(7):2027-2038. doi: 10.1093/brain/awaa152. Brain. 2020. PMID: 32542401

4

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M. Traiffort E, et al. Among authors: david v. J Biol Chem. 2004 Oct 8;279(41):42889-97. doi: 10.1074/jbc.M405161200. Epub 2004 Jul 28. J Biol Chem. 2004. PMID: 15292211 Free article.

5

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Babron MC, Akloul L, Héron-Longe B, Odent S, Dupé V, Giet R, David V. Mouden C, et al. Among authors: david v. PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015. PLoS One. 2015. PMID: 25658757 Free PMC article.

6

[From cyclops to reality: a fresh look at the genetics of holoprosencephaly].

Dupé V, Dubourg C, de Tayrac M, David V. Dupé V, et al. Among authors: david v. Med Sci (Paris). 2017 Nov;33(11):924-926. doi: 10.1051/medsci/20173311003. Epub 2017 Dec 4. Med Sci (Paris). 2017. PMID: 29200384 Free article. French. No abstract available.

7

Recent advances in understanding inheritance of holoprosencephaly.

Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Dubourg C, et al. Among authors: david v. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):258-269. doi: 10.1002/ajmg.c.31619. Epub 2018 May 22. Am J Med Genet C Semin Med Genet. 2018. PMID: 29785796 Free article. Review.

8

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Among authors: david v. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.

9

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.

Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C, David V. Beaumont M, et al. Among authors: david v. Hum Genet. 2019 Apr;138(4):363-374. doi: 10.1007/s00439-019-01993-y. Epub 2019 Mar 5. Hum Genet. 2019. PMID: 30838450

10

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V. Mercier S, et al. Among authors: david v. Dis Model Mech. 2013 Mar;6(2):537-43. doi: 10.1242/dmm.010132. Epub 2012 Dec 20. Dis Model Mech. 2013. PMID: 23264560 Free PMC article.

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