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Items: 1 to 50 of 52

1.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B.

Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17.

PMID:
31630789
2.

Improved gene co-expression network quality through expression dataset down-sampling and network aggregation.

Liesecke F, De Craene JO, Besseau S, Courdavault V, Clastre M, Vergès V, Papon N, Giglioli-Guivarc'h N, Glévarec G, Pichon O, Dugé de Bernonville T.

Sci Rep. 2019 Oct 8;9(1):14431. doi: 10.1038/s41598-019-50885-8.

3.

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A.

Eur J Hum Genet. 2019 Oct 7. doi: 10.1038/s41431-019-0522-2. [Epub ahead of print]

PMID:
31591517
4.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

5.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19.

PMID:
31273809
6.

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.

Genet Med. 2019 Nov;21(11):2663. doi: 10.1038/s41436-019-0590-2.

PMID:
31267042
7.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Corominas Galbany J, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C.

Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12.

PMID:
31230393
8.

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.

Genet Med. 2019 Jun 3. doi: 10.1038/s41436-019-0557-3. [Epub ahead of print] Erratum in: Genet Med. 2019 Jul 3;:.

PMID:
31155615
9.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

Conrad S, Demurger F, Moradkhani K, Pichon O, Le Caignec C, Pascal C, Thomas C, Bayart S, Perlat A, Dubourg C, Jaillard S, Nizon M.

Am J Med Genet A. 2019 Jun;179(6):993-1000. doi: 10.1002/ajmg.a.61113. Epub 2019 Mar 19.

PMID:
30888095
10.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.

Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.

11.

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

Pacault M, Nizon M, Pichon O, Vincent M, Le Caignec C, Isidor B.

Eur J Med Genet. 2019 Dec;62(12):103586. doi: 10.1016/j.ejmg.2018.11.020. Epub 2018 Nov 22.

PMID:
30472483
12.

Setting-up a fast and reliable cytokinin biosensor based on a plant histidine kinase receptor expressed in Saccharomyces cerevisiae.

Daudu D, Kisiala A, Werner Ribeiro C, Mélin C, Perrot L, Clastre M, Courdavault V, Papon N, Oudin A, Courtois M, Dugé de Bernonville T, Gaucher M, Degrave A, Lanoue A, Lanotte P, Schouler C, Brisset MN, Emery RJN, Pichon O, Carpin S, Giglioli-Guivarc'h N, Crèche J, Besseau S, Glévarec G.

J Biotechnol. 2019 Jan 10;289:103-111. doi: 10.1016/j.jbiotec.2018.11.013. Epub 2018 Nov 20.

PMID:
30468817
13.

Genome-wide identification and biochemical characterization of the UGT88F subfamily in Malus x domestica Borkh.

Elejalde-Palmett C, Billet K, Lanoue A, De Craene JO, Glévarec G, Pichon O, Clastre M, Courdavault V, St-Pierre B, Giglioli-Guivarc'h N, Dugé de Bernonville T, Besseau S.

Phytochemistry. 2019 Jan;157:135-144. doi: 10.1016/j.phytochem.2018.10.019. Epub 2018 Nov 3.

PMID:
30399496
14.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

15.

Ranking genome-wide correlation measurements improves microarray and RNA-seq based global and targeted co-expression networks.

Liesecke F, Daudu D, Dugé de Bernonville R, Besseau S, Clastre M, Courdavault V, de Craene JO, Crèche J, Giglioli-Guivarc'h N, Glévarec G, Pichon O, Dugé de Bernonville T.

Sci Rep. 2018 Jul 18;8(1):10885. doi: 10.1038/s41598-018-29077-3.

16.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Lenormand A, Khonsari R, Corre P, Perrin JP, Boscher C, Nizon M, Pichon O, David A, Le Caignec C, Bertin H, Isidor B.

Am J Med Genet A. 2018 Jul;176(7):1614-1617. doi: 10.1002/ajmg.a.38690. Epub 2018 Apr 28.

PMID:
29704302
17.

Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma.

Le Nail LR, Brennan M, Rosset P, Deschaseaux F, Piloquet P, Pichon O, Le Caignec C, Crenn V, Layrolle P, Hérault O, De Pinieux G, Trichet V.

Int J Mol Sci. 2018 Mar 1;19(3). pii: E707. doi: 10.3390/ijms19030707.

18.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

19.

CHASE-Containing Histidine Kinase Receptors in Apple Tree: From a Common Receptor Structure to Divergent Cytokinin Binding Properties and Specific Functions.

Daudu D, Allion E, Liesecke F, Papon N, Courdavault V, Dugé de Bernonville T, Mélin C, Oudin A, Clastre M, Lanoue A, Courtois M, Pichon O, Giron D, Carpin S, Giglioli-Guivarc'h N, Crèche J, Besseau S, Glévarec G.

Front Plant Sci. 2017 Sep 20;8:1614. doi: 10.3389/fpls.2017.01614. eCollection 2017.

20.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B.

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

21.

Virus-induced gene silencing of the two squalene synthase isoforms of apple tree (Malus × domestica L.) negatively impacts phytosterol biosynthesis, plastid pigmentation and leaf growth.

Navarro Gallón SM, Elejalde-Palmett C, Daudu D, Liesecke F, Jullien F, Papon N, Dugé de Bernonville T, Courdavault V, Lanoue A, Oudin A, Glévarec G, Pichon O, Clastre M, St-Pierre B, Atehortùa L, Yoshikawa N, Giglioli-Guivarc'h N, Besseau S.

Planta. 2017 Jul;246(1):45-60. doi: 10.1007/s00425-017-2681-0. Epub 2017 Mar 27.

PMID:
28349256
22.

Folivory elicits a strong defense reaction in Catharanthus roseus: metabolomic and transcriptomic analyses reveal distinct local and systemic responses.

Dugé de Bernonville T, Carqueijeiro I, Lanoue A, Lafontaine F, Sánchez Bel P, Liesecke F, Musset K, Oudin A, Glévarec G, Pichon O, Besseau S, Clastre M, St-Pierre B, Flors V, Maury S, Huguet E, O'Connor SE, Courdavault V.

Sci Rep. 2017 Jan 17;7:40453. doi: 10.1038/srep40453.

23.

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.

Latypova X, Bordereau S, Bleriot A, Pichon O, Poulain D, Briand A, Le Caignec C, Isidor B.

Am J Med Genet A. 2016 Sep;170(9):2466-70. doi: 10.1002/ajmg.a.37837. Epub 2016 Jul 5.

PMID:
27378064
24.

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.

Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson PF, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C, Lefort B, Bajolle F, Pezard P, Schott JJ, Dina C, Redon R, Gournay V, Bonnet D, Le Caignec C.

Circ Cardiovasc Genet. 2016 Feb;9(1):86-94. doi: 10.1161/CIRCGENETICS.115.001213. Epub 2015 Dec 7.

PMID:
26643481
25.

Characterization of a spermidine hydroxycinnamoyltransferase in Malus domestica highlights the evolutionary conservation of trihydroxycinnamoyl spermidines in pollen coat of core Eudicotyledons.

Elejalde-Palmett C, de Bernonville TD, Glevarec G, Pichon O, Papon N, Courdavault V, St-Pierre B, Giglioli-Guivarc'h N, Lanoue A, Besseau S.

J Exp Bot. 2015 Dec;66(22):7271-85. doi: 10.1093/jxb/erv423. Epub 2015 Sep 12.

PMID:
26363642
26.

Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

Molin A, Lopez-Cazaux S, Pichon O, Vincent M, Isidor B, Le Caignec C.

Am J Med Genet A. 2015 Jun;167(6):1386-90. doi: 10.1002/ajmg.a.37052. Epub 2015 Apr 21.

PMID:
25899668
27.

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V.

Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Review.

PMID:
25425167
28.

Disruption of the SEMA3D gene in a patient with congenital heart defects.

Sanchez-Castro M, Pichon O, Briand A, Poulain D, Gournay V, David A, Le Caignec C.

Hum Mutat. 2015 Jan;36(1):30-3. doi: 10.1002/humu.22702. Epub 2014 Nov 28.

PMID:
25230848
29.

Congenital heart defects in patients with deletions upstream of SOX9.

Sanchez-Castro M, Gordon CT, Petit F, Nord AS, Callier P, Andrieux J, Guérin P, Pichon O, David A, Abadie V, Bonnet D, Visel A, Pennacchio LA, Amiel J, Lyonnet S, Le Caignec C.

Hum Mutat. 2013 Dec;34(12):1628-31. doi: 10.1002/humu.22449. Epub 2013 Oct 18.

PMID:
24115316
30.

Characterization of the early events leading to totipotency in an Arabidopsis protoplast liquid culture by temporal transcript profiling.

Chupeau MC, Granier F, Pichon O, Renou JP, Gaudin V, Chupeau Y.

Plant Cell. 2013 Jul;25(7):2444-63. doi: 10.1105/tpc.113.109538. Epub 2013 Jul 31.

31.

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?

Isidor B, Le Meur G, Conti C, Caldagues E, Lainey E, Launay E, Leclair MD, Le Francois T, Pichon O, Boisseau P, Migraine A, Keren B, Le Caignec C, Crow YJ, David A.

Am J Med Genet A. 2013 Aug;161A(8):1829-32. doi: 10.1002/ajmg.a.36021. Epub 2013 Jul 3.

PMID:
23824919
32.

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C.

Eur J Hum Genet. 2013 Jul;21(7):784-7. doi: 10.1038/ejhg.2012.252. Epub 2012 Nov 21.

33.

Autosomal insertional translocation mimicking an X-linked mode of inheritance.

Thierry G, Pichon O, Briand A, Poulain D, Sznajer Y, David A, Le Caignec C.

Eur J Med Genet. 2013 Jan;56(1):46-9. doi: 10.1016/j.ejmg.2012.10.006. Epub 2012 Oct 26.

PMID:
23107885
34.

Optimization of the URA-blaster disruption system in Candida guilliermondii: efficient gene targeting using the URA3 marker.

Foureau E, Courdavault V, Simkin AJ, Pichon O, Crèche J, Giglioli-Guivarc'h N, Clastre M, Papon N.

J Microbiol Methods. 2012 Oct;91(1):117-20. doi: 10.1016/j.mimet.2012.07.020. Epub 2012 Aug 3.

PMID:
22884441
35.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.

Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.

36.

De novo duplication and deletions at 7q in a three-generation family.

Isidor B, Villa O, Pichon O, Briand A, Poulain D, Boisseau P, Pérez-Jurado LA, Le Caignec C.

Am J Med Genet A. 2012 Jun;158A(6):1493-7. doi: 10.1002/ajmg.a.35332. Epub 2012 May 10. No abstract available.

PMID:
22577094
37.

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

Isidor B, Le Merrer M, Exner GU, Pichon O, Thierry G, Guiochon-Mantel A, David A, Cormier-Daire V, Le Caignec C.

Hum Mutat. 2011 Nov;32(11):1239-42. doi: 10.1002/humu.21563. Epub 2011 Sep 12.

PMID:
21793104
38.

The 21(st) Ion Channel Meeting, September 2010, France.

Baron-Foster A, Poët M, Pichon O, Fricker D, Poncer JC, Van Coppenolle F, Duranton C.

Channels (Austin). 2011 Jul-Aug;5(4):382-5. doi: 10.4161/chan.5.4.16530. Epub 2011 Jul 1.

PMID:
21654198
39.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C.

Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778.

PMID:
21378989
40.

Molecular cloning and characterisation of two calmodulin isoforms of the Madagascar periwinkle Catharanthus roseus.

Poutrain P, Guirimand G, Mahroug S, Burlat V, Melin C, Ginis O, Oudin A, Giglioli-Guivarc'h N, Pichon O, Courdavault V.

Plant Biol (Stuttg). 2011 Jan;13(1):36-41. doi: 10.1111/j.1438-8677.2010.00325.x.

PMID:
21143723
41.

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C.

Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17.

42.

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.

Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S.

Clin Genet. 2011 Apr;79(4):371-7. doi: 10.1111/j.1399-0004.2010.01465.x.

PMID:
20569257
43.

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.

Isidor B, Pichon O, Baron S, David A, Le Caignec C.

Am J Med Genet A. 2010 Jan;152A(1):175-80. doi: 10.1002/ajmg.a.33152.

PMID:
20014135
44.

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, Morel Y, David A, Le Caignec C.

Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830.

PMID:
19449405
45.

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization.

Isidor B, Baujat G, Le Caignec C, Pichon O, Martin-Coignard D, Toutain A, David A.

Am J Med Genet A. 2009 Aug;149A(8):1734-9. doi: 10.1002/ajmg.a.32796.

PMID:
19449403
46.

Two distinct intracellular Ca2+-release components act in opposite ways in the regulation of the auxin-dependent MIA biosynthesis in Catharanthus roseus cells.

Poutrain P, Mazars C, Thiersault M, Rideau M, Pichon O.

J Exp Bot. 2009;60(4):1387-98. doi: 10.1093/jxb/erp017. Epub 2009 Feb 13.

PMID:
19218316
47.

The Arabidopsis abscisic acid catabolic gene CYP707A2 plays a key role in nitrate control of seed dormancy.

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