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Items: 39

1.

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.

Hum Genet. 2019 Apr;138(4):363-374. doi: 10.1007/s00439-019-01993-y. Epub 2019 Mar 5.

PMID:
30838450
2.

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.

Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290.

3.

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.

Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5.

4.

Recent advances in understanding inheritance of holoprosencephaly.

Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé 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. Review.

5.

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

Dupé V, Dubourg C, de Tayrac M, David V.

Med Sci (Paris). 2017 Nov;33(11):924-926. doi: 10.1051/medsci/20173311003. Epub 2017 Dec 4. French. No abstract available.

6.
7.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V.

Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23.

8.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Mouden C, Dubourg C, Carré W, Rose S, Quelin C, Akloul L, Hamdi-Rozé H, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V.

Clin Genet. 2016 Jun;89(6):659-68. doi: 10.1111/cge.12722. Epub 2016 Feb 16.

9.

Evolutionary Conservation of the Early Axon Scaffold in the Vertebrate Brain.

Ware M, Dupé V, Schubert FR.

Dev Dyn. 2015 Oct;244(10):1202-14. doi: 10.1002/dvdy.24312. Epub 2015 Aug 13. Review.

10.

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.

PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015.

11.

Dynamic expression of Notch-dependent neurogenic markers in the chick embryonic nervous system.

Ratié L, Ware M, Jagline H, David V, Dupé V.

Front Neuroanat. 2014 Dec 18;8:158. doi: 10.3389/fnana.2014.00158. eCollection 2014.

12.

Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus.

Ware M, Hamdi-Rozé H, Dupé V.

Front Neuroanat. 2014 Dec 2;8:140. doi: 10.3389/fnana.2014.00140. eCollection 2014. Review.

13.

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development.

Ratié L, Ware M, Barloy-Hubler F, Romé H, Gicquel I, Dubourg C, David V, Dupé V.

Neural Dev. 2013 Dec 23;8:25. doi: 10.1186/1749-8104-8-25.

14.

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.

Démurger F, Pasquier L, Dubourg C, Dupé V, Gicquel I, Evain C, Ratié L, Jaillard S, Beri M, Leheup B, Lespinasse J, Martin-Coignard D, Mercier S, Quelin C, Loget P, Marcorelles P, Laquerrière A, Bendavid C, Odent S, David V.

Mol Syndromol. 2013 Sep;4(6):267-72. doi: 10.1159/000353878. Epub 2013 Aug 1.

15.

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.

Dis Model Mech. 2013 Mar;6(2):537-43. doi: 10.1242/dmm.010132. Epub 2012 Dec 20.

16.

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S.

J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22.

17.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Dupé V, Rochard L, Mercier S, Le Pétillon Y, Gicquel I, Bendavid C, Bourrouillou G, Kini U, Thauvin-Robinet C, Bohan TP, Odent S, Dubourg C, David V.

Hum Mol Genet. 2011 Mar 15;20(6):1122-31. doi: 10.1093/hmg/ddq556. Epub 2010 Dec 31.

18.

Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammation.

Niculescu C, Ganguli-Indra G, Pfister V, Dupé V, Messaddeq N, De Arcangelis A, Georges-Labouesse E.

Eur J Cell Biol. 2011 Feb-Mar;90(2-3):270-7. doi: 10.1016/j.ejcb.2010.09.003. Epub 2010 Oct 20.

PMID:
20965608
19.

Holoprosencephaly: An update on cytogenetic abnormalities.

Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):86-92. doi: 10.1002/ajmg.c.30250. Review.

20.

Retinoic acid receptors exhibit cell-autonomous functions in cranial neural crest cells.

Dupé V, Pellerin I.

Dev Dyn. 2009 Oct;238(10):2701-11. doi: 10.1002/dvdy.22087.

21.

Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis.

Matt N, Ghyselinck NB, Pellerin I, Dupé V.

Dev Biol. 2008 Aug 1;320(1):140-8. doi: 10.1016/j.ydbio.2008.04.039. Epub 2008 May 11.

22.

Identification of a new type of PBX1 partner that contains zinc finger motifs and inhibits the binding of HOXA9-PBX1 to DNA.

Laurent A, Bihan R, Deschamps S, Guerrier D, Dupé V, Omilli F, Burel A, Pellerin I.

Mech Dev. 2007 May;124(5):364-76. Epub 2007 Feb 8.

23.

Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells.

Matt N, Dupé V, Garnier JM, Dennefeld C, Chambon P, Mark M, Ghyselinck NB.

Development. 2005 Nov;132(21):4789-800. Epub 2005 Oct 5.

25.

Contribution of cellular retinol-binding protein type 1 to retinol metabolism during mouse development.

Matt N, Schmidt CK, Dupé V, Dennefeld C, Nau H, Chambon P, Mark M, Ghyselinck NB.

Dev Dyn. 2005 May;233(1):167-76.

26.

A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment.

Dupé V, Matt N, Garnier JM, Chambon P, Mark M, Ghyselinck NB.

Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14036-41. Epub 2003 Nov 17.

27.

Hindbrain patterning involves graded responses to retinoic acid signalling.

Dupé V, Lumsden A.

Development. 2001 Jun;128(12):2199-208.

28.

Differential contributions of AF-1 and AF-2 activities to the developmental functions of RXR alpha.

Mascrez B, Mark M, Krezel W, Dupé V, LeMeur M, Ghyselinck NB, Chambon P.

Development. 2001 Jun;128(11):2049-62.

29.

A genetic dissection of the retinoid signalling pathway in the mouse.

Mark M, Ghyselinck NB, Wendling O, Dupé V, Mascrez B, Kastner P, Chambon P.

Proc Nutr Soc. 1999 Aug;58(3):609-13. Review.

PMID:
10604193
30.
31.

Essential roles of retinoic acid signaling in interdigital apoptosis and control of BMP-7 expression in mouse autopods.

Dupé V, Ghyselinck NB, Thomazy V, Nagy L, Davies PJ, Chambon P, Mark M.

Dev Biol. 1999 Apr 1;208(1):30-43.

32.

Mesectoderm is a major target of retinoic acid action.

Mark M, Ghyselinck NB, Kastner P, Dupé V, Wendling O, Krezel W, Mascrez B, Chambon P.

Eur J Oral Sci. 1998 Jan;106 Suppl 1:24-31.

PMID:
9541199
33.

Impaired locomotion and dopamine signaling in retinoid receptor mutant mice.

Krezel W, Ghyselinck N, Samad TA, Dupé V, Kastner P, Borrelli E, Chambon P.

Science. 1998 Feb 6;279(5352):863-7.

34.

Role of the retinoic acid receptor beta (RARbeta) during mouse development.

Ghyselinck NB, Dupé V, Dierich A, Messaddeq N, Garnier JM, Rochette-Egly C, Chambon P, Mark M.

Int J Dev Biol. 1997 Jun;41(3):425-47.

35.

[Genetic control of the development by retinoic acid].

Mark M, Kastner P, Ghyselinck NB, Krezel W, Dupé V, Chambon P.

C R Seances Soc Biol Fil. 1997;191(1):77-90. Review. French.

PMID:
9181129
36.

In vivo functional analysis of the Hoxa-1 3' retinoic acid response element (3'RARE).

Dupé V, Davenne M, Brocard J, Dollé P, Mark M, Dierich A, Chambon P, Rijli FM.

Development. 1997 Jan;124(2):399-410.

37.

Genetic evidence that the retinoid signal is transduced by heterodimeric RXR/RAR functional units during mouse development.

Kastner P, Mark M, Ghyselinck N, Krezel W, Dupé V, Grondona JM, Chambon P.

Development. 1997 Jan;124(2):313-26.

38.

RXR gamma null mice are apparently normal and compound RXR alpha +/-/RXR beta -/-/RXR gamma -/- mutant mice are viable.

Krezel W, Dupé V, Mark M, Dierich A, Kastner P, Chambon P.

Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9010-4.

39.

Roles of retinoic acid receptors and of Hox genes in the patterning of the teeth and of the jaw skeleton.

Mark M, Lohnes D, Mendelsohn C, Dupé V, Vonesch JL, Kastner P, Rijli F, Bloch-Zupan A, Chambon P.

Int J Dev Biol. 1995 Feb;39(1):111-21. Review.

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