Works matching AU Colleaux, Laurence

Results: 43

Author Correction: Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs.

Published in:

2025

By:

Baylot, Virginie;
Le, Thi Khanh;
Taïeb, David;
Rocchi, Palma;
Colleaux, Laurence

Publication type:

Correction Notice

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

Published in:

Clinical Genetics, 2019, v. 96, n. 3, p. 254, doi. 10.1111/cge.13581

By:

Routier, Laura;
Verny, Florine;
Barcia, Giulia;
Chemaly, Nicole;
Desguerre, Isabelle;
Colleaux, Laurence;
Nabbout, Rima

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140

By:

Philippe, Orianne;
Rio, Marlène;
Malan, Valérie;
Van Esch, Hilde;
Baujat, Geneviève;
Bahi-Buisson, Nadia;
Valayannopoulos, Vassili;
Gesny, Roseline;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Froyen, Guy;
Amiel, Jeanne;
Boddaert, Nathalie;
Colleaux, Laurence

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159

By:

Rio, Marlène;
Malan, Valérie;
Boissel, Sarah;
Toutain, Annick;
Royer, Ghislaine;
Gobin, Stéphanie;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Vekemans, Michel;
Colleaux, Laurence

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162

By:

Malan, Valérie;
Chevallier, Suzanne;
Soler, Gwendoline;
Coubes, Christine;
Lacombe, Didier;
Pasquier, Laurent;
Soulier, Jean;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Munnich, Arnold;
Romana, Serge;
Vekemans, Michel;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214

By:

Lyle, Robert;
Béna, Frédérique;
Gagos, Sarantis;
Gehrig, Corinne;
Lopez, Gipsy;
Schinzel, Albert;
Lespinasse, James;
Bottani, Armand;
Dahoun, Sophie;
Taine, Laurence;
Doco-Fenzy, Martine;
Cornillet-Lefèbvre, Pascale;
Pelet, Anna;
Lyonnet, Stanislas;
Toutain, Annick;
Colleaux, Laurence;
Horst, Jürgen;
Kennerknecht, Ingo;
Wakamatsu, Nobuaki;
Descartes, Maria

Publication type:

Article

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 6, p. 759, doi. 10.1038/sj.ejhg.5201613

By:

Redon, Richard;
Baujat, Geneviève;
Sanlaville, Damien;
Le Merrer, Martine;
Vekemans, Michel;
Munnich, Arnold;
Carter, Nigel P.;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591

By:

Colleaux, Laurence;
Rio, Marlène;
Heuertz, Solange;
Moindrault, Séverine;
Turleau, Catherine;
Ozilou, Catherine;
Gosset, Philippe;
Raoult, Odile;
Lyonnet, Stanislas;
Cormier-Daire, Valérie;
Amiel, Jeanne;
Le Merrer, Martine;
Picq, Monique;
de Blois, Marie-Christine;
Prieur, Marguerite;
Romana, Serge;
Cornelis, François;
Vekemans, Michel;
Munnich, Arnold

Publication type:

Article

The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 3, p. 174, doi. 10.1038/sj.ejhg.5200439

By:

Cardoso, Carlos;
Mignon, Cecile;
Hetet, Gilles;
Grandchamps, Bernard;
Fontes, Michel;
Colleaux, Laurence

Publication type:

Article

XI. Yeast sequencing reports. The sequence of a 9·3 kb segment located on the left arm of the yeast chromosome XI reveals five open reading frames including the CCE1 gene and putative products related to MYO2 and to the ribosomal protein L10.

Published in:

Yeast, 1992, v. 8, n. 11, p. 987, doi. 10.1002/yea.320081109

By:

Pascolo, Steve;
Ghazvini, Marjan;
Boyer, Jeanne;
Colleaux, Laurence;
Thierry, Agnès;
Dujon, Bernard

Publication type:

Article

Sequence of a segment of yeast chromosome XI identifies a new mitochondrial carrier,a new member of the G protein family, and a protein with the PAAKK motif of the H1 histones.

Published in:

Yeast, 1992, v. 8, n. 4, p. 325, doi. 10.1002/yea.320080410

By:

Colleaux, Laurence;
Richard, Guy-Franck;
Thierry, Agnès;
Dujon, Bernard

Publication type:

Article

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

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441

By:

Barcia, Giulia;
Fleming, Matthew R;
Deligniere, Aline;
Gazula, Valeswara-Rao;
Brown, Maile R;
Langouet, Maeva;
Chen, Haijun;
Kronengold, Jack;
Abhyankar, Avinash;
Cilio, Roberta;
Nitschke, Patrick;
Kaminska, Anna;
Boddaert, Nathalie;
Casanova, Jean-Laurent;
Desguerre, Isabelle;
Munnich, Arnold;
Dulac, Olivier;
Kaczmarek, Leonard K;
Colleaux, Laurence;
Nabbout, Rima

Publication type:

Article

Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 2, p. 195, doi. 10.1093/hmg/ddg276

By:

Molinari, Florence;
Meskanaite, Virginia;
Munnich, Arnold;
Sonderegger, Peter;
Colleaux, Laurence

Publication type:

Article

Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system.

Published in:

Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R195, doi. 10.1093/hmg/ddg276

By:

Molinari, Florence;
Meskanaite, Virginia;
Munnich, Arnold;
Sonderegger, Peter;
Colleaux, Laurence

Publication type:

Article

Specific interaction between the XNP /ATR-X gene product and the SET domain of the human EZH2 protein.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 679, doi. 10.1093/hmg/7.4.679

By:

Cardoso, Carlos;
Timsit, Serge;
Villard, Laurent;
Khrestchatisky, Michel;
Fontès, Michel;
Colleaux, Laurence

Publication type:

Article

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1465

By:

May, Melanie;
Colleaux, Laurence;
Murgia, Alessandra;
Aylsworth, Arthur;
Nussbaum, Robert;
Fontes, Michel;
Schwartz, Charles

Publication type:

Article

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8

By:

Mascibroda, Lauren G.;
Shboul, Mohammad;
Elrod, Nathan D.;
Colleaux, Laurence;
Hamamy, Hanan;
Huang, Kai-Lieh;
Peart, Natoya;
Singh, Moirangthem Kiran;
Lee, Hane;
Merriman, Barry;
Jodoin, Jeanne N.;
Sitaram, Poojitha;
Lee, Laura A.;
Fathalla, Raja;
Al-Rawashdeh, Baeth;
Ababneh, Osama;
El-Khateeb, Mohammad;
Escande-Beillard, Nathalie;
Nelson, Stanley F.;
Wu, Yixuan

Publication type:

Article

Refining the phenotype associated with CASC5 mutation.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 71, doi. 10.1007/s10048-015-0468-7

By:

Saadi, Abdelkrim;
Verny, Florine;
Siquier-Pernet, Karine;
Bole-Feysot, Christine;
Nitschke, Patrick;
Munnich, Arnold;
Abada-Dendib, Myriam;
Chaouch, Malika;
Abramowicz, Marc;
Colleaux, Laurence

Publication type:

Article

Rapid physical mapping of YAC inserts by random integration of I-Sce I sites.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 3, p. 265

By:

Colleaux, Laurence;
Rougeulle, Claire;
Avner, Philip;
Dujon, Bernard

Publication type:

Article

Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits.

Published in:

Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00328-3

By:

Fregeac, Julien;
Moriceau, Stéphanie;
Poli, Antoine;
Nguyen, Lam Son;
Oury, Franck;
Colleaux, Laurence

Publication type:

Article

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

Published in:

Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0219-3

By:

Nguyen, Lam Son;
Fregeac, Julien;
Bole-Feysot, Christine;
Cagnard, Nicolas;
Iyer, Anand;
Anink, Jasper;
Aronica, Eleonora;
Alibeu, Olivier;
Nitschke, Patrick;
Colleaux, Laurence

Publication type:

Article

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

Published in:

Molecular Autism, 2016, v. 7, p. 1, doi. 10.1186/s13229-015-0064-6

By:

Nguyen, Lam Son;
Fregeac, Julien;
Siquier-Pernet, Karine;
Philippe, Anne;
Colleaux, Laurence;
Lepleux, Marylin;
Martin, Christelle;
Humeau, Yann;
Makhlouf, Mélanie;
Rougeulle, Claire;
Feron, François;
Gepner, Bruno

Publication type:

Article

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

Published in:

2016

By:

Megahed, Hisham;
Nicouleau, Michaël;
Barcia, Giulia;
Medina-Cano, Daniel;
Siquier-Pernet, Karine;
Bole-Feysot, Christine;
Parisot, Mélanie;
Masson, Cécile;
Nitschké, Patrick;
Rio, Marlène;
Bahi-Buisson, Nadia;
Desguerre, Isabelle;
Munnich, Arnold;
Boddaert, Nathalie;
Colleaux, Laurence;
Cantagrel, Vincent

Publication type:

journal article

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

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935

By:

de Pontual, Loïc;
Mathieu, Yves;
Golzio, Christelle;
Rio, Marlène;
Malan, Valérie;
Boddaert, Nathalie;
Soufflet, Christine;
Picard, Capucine;
Durandy, Anne;
Dobbie, Angus;
Heron, Delphine;
Isidor, Bertrand;
Motte, Jacques;
Newburry-Ecob, Ruth;
Pasquier, Laurent;
Tardieu, Marc;
Viot, Géraldine;
Jaubert, Francis;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 966, doi. 10.1002/humu.20531

By:

Borck, Guntram;
Mollà-Herman, Anahi;
Boddaert, Nathalie;
Encha-Razavi, Férechté;
Philippe, Anne;
Robel, Laurence;
Desguerre, Isabelle;
Brunelle, Francis;
Benmerah, Alexandre;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9478

By:

Borck, Guntram;
Zarhrate, Mohamed;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 731, doi. 10.1002/humu.20380

By:

Borck, Guntram;
Zarhrate, Mohamed;
Cluzeau, Céline;
Bal, Elodie;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

A rapid microarray based whole genome analysis for detection of uniparental disomy.

Published in:

Human Mutation, 2005, v. 26, n. 2, p. 153, doi. 10.1002/humu.20198

By:

Altug-Teber, Özge;
Dufke, Andreas;
Poths, Sven;
Mau-Holzmann, Ulrike Angelika;
Bastepe, Murat;
Colleaux, Laurence;
Cormier-Daire, Valérie;
Eggermann, Thomas;
Gillessen-Kaesbach, Gabriele;
Bonin, Michael;
Riess, Olaf

Publication type:

Article

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q

By:

Lévy, Nicolas;
Bernard-Bronsard, Rafaëlle;
Lossi, Anne-Marie;
Colleaux, Laurence;
Cardoso, Carlos;
Villard, Laurent;
Fontés, Michel

Publication type:

Article

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

Published in:

Nature Communications, 2017, v. 8, n. 7, p. 15910, doi. 10.1038/ncomms15910

By:

Brechet, Aline;
Buchert, Rebecca;
Schwenk, Jochen;
Boudkkazi, Sami;
Zolles, Gerd;
Siquier-Pernet, Karine;
Schaber, Irene;
Bildl, Wolfgang;
Saadi, Abdelkrim;
Bole-Feysot, Christine;
Nitschke, Patrick;
Reis, Andre;
Sticht, Heinrich;
Al-Sanna'a, Nouriya;
Rolfs, Arndt;
Kulik, Akos;
Schulte, Uwe;
Colleaux, Laurence;
Abou Jamra, Rami;
Fakler, Bernd

Publication type:

Article

Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06121-9

By:

Baylot, Virginie;
Le, Thi Khanh;
Taïeb, David;
Rocchi, Palma;
Colleaux, Laurence

Publication type:

Article

Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments.

Published in:

Cancers, 2023, v. 15, n. 20, p. 5047, doi. 10.3390/cancers15205047

By:

Le, Thi Khanh;
Duong, Quang Hieu;
Baylot, Virginie;
Fargette, Christelle;
Baboudjian, Michael;
Colleaux, Laurence;
Taïeb, David;
Rocchi, Palma

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1981, doi. 10.1002/ajmg.a.40375

By:

Nguyen, Huy Hoang;
Pham, Van Anh;
Barcia, Giulia;
Malan, Valérie;
Nguyen, Kiem Lien Thi;
Ngo, Diem Ngoc;
Nguyen, Thu Hien;
Landrieu, Pierre;
Colleaux, Laurence;
Nong, Van Hai;
Nguyen, Lam Son

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684

By:

Alby, Caroline;
Boutaud, Lucile;
Bessières, Bettina;
Serre, Valérie;
Rio, Marlene;
Cormier‐Daire, Valerie;
de Oliveira, Judith;
Ichkou, Amale;
Mouthon, Linda;
Gordon, Christopher T.;
Bonnière, Maryse;
Mechler, Charlotte;
Nitschke, Patrick;
Bole, Christine;
Lyonnet, Stanislas;
Bahi‐Buisson, Nadia;
Boddaert, Nathalie;
Colleaux, Laurence;
Roth, Philippe;
Ville, Yves

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1310, doi. 10.1002/ajmg.a.36452

By:

Lehalle, Daphné;
Sanlaville, Damien;
Guimier, Anne;
Plouvier, Emmanuel;
Leblanc, Thierry;
Galmiche, Louise;
Radford, Isabelle;
Romana, Serge;
Colleaux, Laurence;
de Pontual, Loïc;
Lyonnet, Stanislas;
Amiel, Jeanne

Publication type:

Article

Xq25 duplications encompassing GRIA 3 and STAG 2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1370, doi. 10.1002/ajmg.a.35307

By:

Philippe, Anne;
Malan, Valérie;
Jacquemont, Marie‐Line;
Boddaert, Nathalie;
Bonnefont, Jean‐Paul;
Odent, Sylvie;
Munnich, Arnold;
Colleaux, Laurence;
Cormier‐Daire, Valérie

Publication type:

Article

Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices.

Published in:

Médecine Sciences, 2016, v. 32, n. 6, p. 571, doi. 10.1051/medsci/20163206015

By:

Langouët, Maéva;
Mircsof, Dennis;
Rio, Marlène;
Amiel, Jeanne;
Brown, Steven A.;
Colleaux, Laurence

Publication type:

Article

Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle.

Published in:

Médecine Sciences, 2012, v. 28, n. 2, p. 128, doi. 10.1051/medsci/2012282003

By:

Boissel, Sarah;
Hashimoto, Satoru;
Rio, Marlène;
Zarhrate, Mohammed;
Munnich, Arnold;
Colleaux, Laurence;
Egly, Jean-Marc

Publication type:

Article

Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1472, doi. 10.1002/humu.22399

By:

Langouët, Maéva;
Saadi, Abdelkrim;
Rieunier, Guillaume;
Moutton, Sébastien;
Siquier-Pernet, Karine;
Fernet, Marie;
Nitschke, Patrick;
Munnich, Arnold;
Stern, Marc-Henri;
Chaouch, Malika;
Colleaux, Laurence

Publication type:

Article

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522

By:

Rio, Marlène;
Ozilou, Catherine;
Cormier-Daire, Valérie;
Turleau, Catherine;
Prieur, Marguerite;
Vekemans, Michel;
Chauveau, Pierre;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 215, doi. 10.1002/mgg3.134

By:

Langouët, Maéva;
Siquier‐Pernet, Karine;
Sanquer, Sylvia;
Bole‐Feysot, Christine;
Nitschke, Patrick;
Boddaert, Nathalie;
Munnich, Arnold;
Mancini, Grazia M. S.;
Barouki, Robert;
Amiel, Jeanne;
Colleaux, Laurence

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187

By:

Van Maldergem, Lionel;
Hou, Qingming;
Kalscheuer, Vera M.;
Rio, Marlène;
Doco-Fenzy, Martine;
Medeira, Ana;
de Brouwer, Arjan P.M.;
Cabrol, Christelle;
Haas, Stefan A.;
Cacciagli, Pierre;
Moutton, Sébastien;
Landais, Emilie;
Motte, Jacques;
Colleaux, Laurence;
Bonnet, Céline;
Villard, Laurent;
Dupont, Juliette;
Man, Heng-Ye

Publication type:

Article

Inhibition of poly(ADP-Ribosyl)ation reduced vascular smooth muscle cells loss and improves aortic disease in a mouse model of human accelerated aging syndrome.

Published in:

Cell Death & Disease, 2024, v. 15, n. 10, p. 1, doi. 10.1038/s41419-024-07078-7

By:

Cardoso, Déborah;
Guilbert, Solenn;
Guigue, Philippe;
Carabalona, Aurélie;
Harhouri, Karim;
Peccate, Cécile;
Tournois, Johana;
Guesmia, Zoheir;
Ferreira, Lino;
Bartoli, Catherine;
Levy, Nicolas;
Colleaux, Laurence;
Nissan, Xavier;
Muchir, Antoine

Publication type:

Article