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Items: 1 to 50 of 115

1.

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Routier L, Verny F, Barcia G, Chemaly N, Desguerre I, Colleaux L, Nabbout R.

Clin Genet. 2019 Sep;96(3):254-260. doi: 10.1111/cge.13581. Epub 2019 Jun 6.

PMID:
31170314
2.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

3.

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot JC, Thiel C, Foulquier F, Lefort N, Faivre-Sarrailh C, Colleaux L, Guerrera IC, Cantagrel V.

Elife. 2018 Oct 12;7. pii: e38309. doi: 10.7554/eLife.38309.

4.

NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation.

Lahaye X, Gentili M, Silvin A, Conrad C, Picard L, Jouve M, Zueva E, Maurin M, Nadalin F, Knott GJ, Zhao B, Du F, Rio M, Amiel J, Fox AH, Li P, Etienne L, Bond CS, Colleaux L, Manel N.

Cell. 2018 Oct 4;175(2):488-501.e22. doi: 10.1016/j.cell.2018.08.062. Epub 2018 Sep 27.

5.

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Nguyen HH, Pham VA, Barcia G, Malan V, Nguyen KLT, Ngo DN, Nguyen TH, Landrieu P, Colleaux L, Nong VH, Nguyen LS.

Am J Med Genet A. 2018 Sep;176(9):1981-1984. doi: 10.1002/ajmg.a.40375. Epub 2018 Sep 4.

PMID:
30178921
6.

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.

Nguyen LS, Fregeac J, Bole-Feysot C, Cagnard N, Iyer A, Anink J, Aronica E, Alibeu O, Nitschke P, Colleaux L.

Mol Autism. 2018 Jun 19;9:38. doi: 10.1186/s13229-018-0219-3. eCollection 2018.

7.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V.

Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.

PMID:
29878067
8.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S.

Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684.

PMID:
29681083
9.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Egloff M, Nguyen LS, Siquier-Pernet K, Cormier-Daire V, Baujat G, Attié-Bitach T, Bole-Feysot C, Nitschke P, Vekemans M, Colleaux L, Malan V.

Eur J Hum Genet. 2018 Jun;26(6):912-918. doi: 10.1038/s41431-018-0124-4. Epub 2018 Feb 26.

10.

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B.

Nat Commun. 2017 Jul 4;8:15910. doi: 10.1038/ncomms15910.

11.

The emerging roles of MicroRNAs in autism spectrum disorders.

Fregeac J, Colleaux L, Nguyen LS.

Neurosci Biobehav Rev. 2016 Dec;71:729-738. doi: 10.1016/j.neubiorev.2016.10.018. Epub 2016 Oct 25. Review.

PMID:
27793596
12.

[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].

Langouët M, Mircsof D, Rio M, Amiel J, Brown SA, Colleaux L.

Med Sci (Paris). 2016 Jun-Jul;32(6-7):571-3. doi: 10.1051/medsci/20163206015. Epub 2016 Jul 12. French. No abstract available.

13.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V.

Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9.

14.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H.

Am J Hum Genet. 2016 Apr 7;98(4):782-8. doi: 10.1016/j.ajhg.2016.03.016. Epub 2016 Mar 31.

15.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.

Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004.

16.

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.

Nguyen LS, Lepleux M, Makhlouf M, Martin C, Fregeac J, Siquier-Pernet K, Philippe A, Feron F, Gepner B, Rougeulle C, Humeau Y, Colleaux L.

Mol Autism. 2016 Jan 8;7:1. doi: 10.1186/s13229-015-0064-6. eCollection 2016.

17.

Refining the phenotype associated with CASC5 mutation.

Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L.

Neurogenetics. 2016 Jan;17(1):71-8. doi: 10.1007/s10048-015-0468-7. Epub 2015 Dec 1.

PMID:
26626498
18.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L.

Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16.

19.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2016 Mar;24(3):455-8. doi: 10.1038/ejhg.2015.140. Epub 2015 Jul 8.

20.

Contiguous mutation syndrome in the era of high-throughput sequencing.

Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L.

Mol Genet Genomic Med. 2015 May;3(3):215-20. doi: 10.1002/mgg3.134. Epub 2015 Mar 18.

21.

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Leroy C, Jacquemont ML, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C, Malan V.

Clin Genet. 2016 Jan;89(1):68-73. doi: 10.1111/cge.12567. Epub 2015 Mar 5.

PMID:
25677961
22.

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Kim GE, Kronengold J, Barcia G, Quraishi IH, Martin HC, Blair E, Taylor JC, Dulac O, Colleaux L, Nabbout R, Kaczmarek LK.

Cell Rep. 2014 Dec 11;9(5):1661-1672. doi: 10.1016/j.celrep.2014.11.015. Epub 2014 Dec 4.

23.

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
24.

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Lehalle D, Sanlaville D, Guimier A, Plouvier E, Leblanc T, Galmiche L, Radford I, Romana S, Colleaux L, de Pontual L, Lyonnet S, Amiel J.

Am J Med Genet A. 2014 May;164A(5):1310-7. doi: 10.1002/ajmg.a.36452. Epub 2014 Mar 24. Review.

PMID:
24665034
25.

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R.

Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20.

26.

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.

Enervald E, Du L, Visnes T, Björkman A, Lindgren E, Wincent J, Borck G, Colleaux L, Cormier-Daire V, van Gent DC, Pie J, Puisac B, de Miranda NF, Kracker S, Hammarström L, de Villartay JP, Durandy A, Schoumans J, Ström L, Pan-Hammarström Q.

J Exp Med. 2013 Nov 18;210(12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21.

27.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB.

Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013.

28.

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R.

Eur J Med Genet. 2013 Dec;56(12):683-5. doi: 10.1016/j.ejmg.2013.09.013. Epub 2013 Oct 3.

PMID:
24095819
29.

Mutation in TTI2 reveals a role for triple T complex in human brain development.

Langouët M, Saadi A, Rieunier G, Moutton S, Siquier-Pernet K, Fernet M, Nitschke P, Munnich A, Stern MH, Chaouch M, Colleaux L.

Hum Mutat. 2013 Nov;34(11):1472-6. doi: 10.1002/humu.22399. Epub 2013 Sep 10.

PMID:
23956177
30.

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Philippe A, Malan V, Jacquemont ML, Boddaert N, Bonnefont JP, Odent S, Munnich A, Colleaux L, Cormier-Daire V.

Am J Med Genet A. 2013 Jun;161A(6):1370-5. doi: 10.1002/ajmg.a.35307. Epub 2013 May 1.

PMID:
23637084
31.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.

Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24.

32.

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R.

Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.

33.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L.

Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11.

34.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L.

Eur J Hum Genet. 2013 Feb;21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18.

35.

[Early gene expression dysregulation and intellectual disability].

Boissel S, Hashimoto S, Rio M, Zarhrate M, Munnich A, Colleaux L, Egly JM.

Med Sci (Paris). 2012 Feb;28(2):128-9. doi: 10.1051/medsci/2012282003. Epub 2012 Feb 27. French. No abstract available.

36.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G.

J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

37.

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L.

Science. 2011 Aug 26;333(6046):1161-3. doi: 10.1126/science.1206638.

38.

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L.

Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.

39.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L.

Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28.

40.

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V.

Am J Hum Genet. 2010 Aug 13;87(2):189-98. doi: 10.1016/j.ajhg.2010.07.001. Epub 2010 Jul 30.

41.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
42.

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.

Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, Colleaux L.

Am J Hum Genet. 2009 Dec;85(6):903-8. doi: 10.1016/j.ajhg.2009.11.007.

43.

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, Morichon-Delvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2010 Feb;18(2):227-32. doi: 10.1038/ejhg.2009.162. Epub 2009 Oct 21.

44.

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L.

Eur J Hum Genet. 2010 Mar;18(3):285-90. doi: 10.1038/ejhg.2009.159. Epub 2009 Oct 21.

45.

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, Palmieri L, Brunelle F, Palmieri F, Dulac O, Munnich A, Colleaux L.

Clin Genet. 2009 Aug;76(2):188-94. doi: 10.1111/j.1399-0004.2009.01236.x.

PMID:
19780765
46.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V.

J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.

47.

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L.

Am J Hum Genet. 2009 Jul;85(1):106-11. doi: 10.1016/j.ajhg.2009.06.002. Epub 2009 Jun 25.

48.

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M.

Eur J Med Genet. 2009 Jul-Aug;52(4):180-4. doi: 10.1016/j.ejmg.2009.03.013. Epub 2009 Mar 28.

PMID:
19332161
49.

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J.

Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935.

PMID:
19235238
50.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. doi: 10.1136/jmg.2008.062034. Epub 2009 Jan 6.

PMID:
19126570

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