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Items: 41

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.

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.

4.

Aurora A kinase activity is required to maintain an active spindle assembly checkpoint during prometaphase.

Courtheoux T, Diallo A, Damodaran AP, Reboutier D, Watrin E, Prigent C.

J Cell Sci. 2018 Apr 12;131(7). pii: jcs191353. doi: 10.1242/jcs.191353.

5.

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

Zuin J, Casa V, Pozojevic J, Kolovos P, van den Hout MCGN, van Ijcken WFJ, Parenti I, Braunholz D, Baron Y, Watrin E, Kaiser FJ, Wendt KS.

PLoS Genet. 2017 Dec 20;13(12):e1007137. doi: 10.1371/journal.pgen.1007137. eCollection 2017 Dec.

6.

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.

Eur J Med Genet. 2018 Nov;61(11):680-684. doi: 10.1016/j.ejmg.2017.11.004. Epub 2017 Nov 15.

PMID:
29155047
7.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.

Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24.

PMID:
28120103
8.

Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.

Watrin E, Kaiser FJ, Wendt KS.

Curr Opin Genet Dev. 2016 Apr;37:59-66. doi: 10.1016/j.gde.2015.12.004. Epub 2016 Jan 25. Review.

9.

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ.

Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25.

PMID:
26671848
10.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ.

Clin Genet. 2016 Jan;89(1):74-81. doi: 10.1111/cge.12564. Epub 2015 Feb 25.

11.

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ.

Hum Mutat. 2015 Jan;36(1):26-9. doi: 10.1002/humu.22685. Epub 2014 Dec 2. Erratum in: Hum Mutat. 2015 Feb;36(2):279-80.

PMID:
25196272
12.

Sororin pre-mRNA splicing is required for proper sister chromatid cohesion in human cells.

Watrin E, Demidova M, Watrin T, Hu Z, Prigent C.

EMBO Rep. 2014 Sep;15(9):948-55. doi: 10.15252/embr.201438640. Epub 2014 Aug 4.

13.

Dynamic estrogen receptor interactomes control estrogen-responsive trefoil Factor (TFF) locus cell-specific activities.

Quintin J, Le Péron C, Palierne G, Bizot M, Cunha S, Sérandour AA, Avner S, Henry C, Percevault F, Belaud-Rotureau MA, Huet S, Watrin E, Eeckhoute J, Legagneux V, Salbert G, Métivier R.

Mol Cell Biol. 2014 Jul;34(13):2418-36. doi: 10.1128/MCB.00918-13. Epub 2014 Apr 21.

14.

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K.

Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316.

15.

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells.

Watrin E, Peters JM.

EMBO J. 2009 Sep 2;28(17):2625-35. doi: 10.1038/emboj.2009.202. Epub 2009 Jul 23.

16.

Molecular biology. How and when the genome sticks together.

Watrin E, Peters JM.

Science. 2007 Jul 13;317(5835):209-10. No abstract available.

PMID:
17626874
17.

Sororin is required for stable binding of cohesin to chromatin and for sister chromatid cohesion in interphase.

Schmitz J, Watrin E, Lénárt P, Mechtler K, Peters JM.

Curr Biol. 2007 Apr 3;17(7):630-6. Epub 2007 Mar 8.

18.

Cohesin and DNA damage repair.

Watrin E, Peters JM.

Exp Cell Res. 2006 Aug 15;312(14):2687-93. Epub 2006 Jun 22. Review.

PMID:
16876157
19.

Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.

Watrin E, Schleiffer A, Tanaka K, Eisenhaber F, Nasmyth K, Peters JM.

Curr Biol. 2006 May 9;16(9):863-74.

21.

Multiple roles of Condensins: a complex story.

Legagneux V, Cubizolles F, Watrin E.

Biol Cell. 2004 Apr;96(3):201-13. Review.

PMID:
15182703
22.

Introduction to chromosome dynamics in mitosis.

Watrin E, Legagneux V.

Biol Cell. 2003 Nov;95(8):507-13. Review.

PMID:
14630387
23.

Distribution of XCAP-E and XCAP-D2 in the Xenopus oocyte nucleus.

Beenders B, Watrin E, Legagneux V, Kireev I, Bellini M.

Chromosome Res. 2003;11(6):549-64.

PMID:
14516064
24.

Expression and functional dynamics of the XCAP-D2 condensin subunit in Xenopus laevis oocytes.

Watrin E, Cubizolles F, Osborne HB, Le Guellec K, Legagneux V.

J Biol Chem. 2003 Jul 11;278(28):25708-15. Epub 2003 May 2.

25.

Nucleolar association of pEg7 and XCAP-E, two members of Xenopus laevis condensin complex in interphase cells.

Uzbekov R, Timirbulatova E, Watrin E, Cubizolles F, Ogereau D, Gulak P, Legagneux V, Polyakov VJ, Le Guellec K, Kireev I.

J Cell Sci. 2003 May 1;116(Pt 9):1667-78.

26.

[Glioma of the surgically treated retina and sexual precocity].

Neimann N, Watrin E, Thiriet M, Mendelsohn P.

Bull Soc Ophtalmol Fr. 1967 Dec;67(12):1145-50. French. No abstract available.

PMID:
5621634
27.

[Palpebral cold abscess revealing a tuberculous maxillary sinusitis].

Watrin E, Mendelsohn P.

Bull Soc Ophtalmol Fr. 1967 Dec;67(12):1124-9. French. No abstract available.

PMID:
4987571
28.

[Retinocerebellar angiomatosis (Von Hippel-Lindau disease): a case].

Cordier J, Saudax E, Watrin E, Raspiller A.

Bull Soc Ophtalmol Fr. 1967 Oct;67(10):951-8. French. No abstract available.

PMID:
5630175
29.

[Long term recurrence of orbital inflammatory pseudotumor].

Watrin E, Reny A, Mendelsohn P, Parache R.

Bull Soc Ophtalmol Fr. 1967 Oct;67(10):970-8. French. No abstract available.

PMID:
5621026
30.

[Ataxia telangiectasia syndrome].

Thomas C, Cordier J, Watrin E, Reny.

Bull Mem Soc Fr Ophtalmol. 1967;80:559-66. French. No abstract available.

PMID:
5633892
31.

[Narcosis by gamma-OH combined with local anesthesia in ophthalmology].

Thomas C, Watrin E, Raspiller A.

Bull Soc Ophtalmol Fr. 1966 Jul-Aug;66(7):700-4. French. No abstract available.

PMID:
5981484
32.

[Trial comparison of results of various operations performed in congenital glaucoma].

Watrin E, Thomas C.

Bull Soc Ophtalmol Fr. 1966 Jul-Aug;66(7):663-9. French. No abstract available.

PMID:
5981475
33.

[Apropos of essential atrophy of the iris].

Saudax E, Watrin E, Fontenaille N.

Bull Soc Ophtalmol Fr. 1966 Feb;66(2):209-14. French. No abstract available.

PMID:
5945786
34.

[Sensitization to the effects of central stimulants by a previous reserpine treatment].

Xhenseval B, Dallemagne G, Parent MJ, Watrin E.

J Physiol (Paris). 1965 Sep-Oct;57(5):723-4. French. No abstract available.

PMID:
5847182
35.

[Atypical lymph node metastases from a retinoblastoma previously treated by enucleation and radiotherapy].

Watrin E.

Bull Soc Ophtalmol Fr. 1965 Jul-Aug;65(7):646-8. French. No abstract available.

PMID:
5844759
36.

[Use in ophthalmology of a fibrinolytic agent-diffusant enzyme combination (alphamucase)].

Cordier J, Watrin E, Seigneur JP.

Bull Soc Ophtalmol Fr. 1965 Jul-Aug;65(7):613-27. French. No abstract available.

PMID:
5844753
37.

[Ocular inflammation of dental origin].

Cordier J, Vexler C, Watrin E, Barisain P.

Bull Soc Ophtalmol Fr. 1965 Mar;65(3):221-2. French. No abstract available.

PMID:
5830361
38.

[Iconography of an unusual intra-ocular foreign body].

Saudax E, Watrin E, Barisain P.

Bull Soc Ophtalmol Fr. 1965 Mar;65(3):218-21. French. No abstract available.

PMID:
5830360
39.

[RETINAL EMBOLISM REVEALING A MITRAL STENOSIS].

SAUDAX E, WATRIN E.

Bull Soc Ophtalmol Fr. 1964 Nov;64:950. French. No abstract available.

PMID:
14300843
40.

[APROPOS OF A PERILACRIMAL TUMOR].

WATRIN E, SAUDAX E.

Bull Soc Ophtalmol Fr. 1964 Nov;64:924-6. French. No abstract available.

PMID:
14300837
41.

[APROPOS OF A FURTHER CASE OF FRAN COIS' SYNDROME].

WATRIN E.

Bull Soc Ophtalmol Fr. 1964 Jan;64:87-9. French. No abstract available.

PMID:
14297456

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