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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Published in:
2016
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Rastetter, Agnès;
- Boutaud, Lucile;
- Heide, Solveig;
- Billette, Thierry;
- Doummar, Diane;
- Garel, Catherine;
- Afenjar, Alexandra;
- Jacquette, Aurélia;
- Lacombe, Didier;
- Verloes, Alain;
- Bole-Feysot, Christine;
- Nitschké, Patrick;
- Masson, Cécile;
- Faudet, Anne;
- Lesne, Fabien;
- Bienvenu, Thierry;
- Alby, Caroline;
- Attié-Bitach, Tania
Publication type:
journal 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
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1797, doi. 10.1002/ajmg.a.36054
By:
- Alby, Caroline;
- Bessieres, Bettina;
- Bieth, Eric;
- Attie‐Bitach, Tania;
- Fermont, Laurent;
- Citony, Isabelle;
- Razavi, Ferechté;
- Vekemans, Michel;
- Escande, Fabienne;
- Manouvrier, Sylvie;
- Malan, Valérie;
- Amiel, Jeanne
Publication type:
Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Published in:
Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
By:
- Thauvin-Robinet, Christel;
- Lee, Jaclyn S;
- Lopez, Estelle;
- Herranz-Pérez, Vicente;
- Shida, Toshinobu;
- Franco, Brunella;
- Jego, Laurence;
- Ye, Fan;
- Pasquier, Laurent;
- Loget, Philippe;
- Gigot, Nadège;
- Aral, Bernard;
- Lopes, Carla A M;
- St-Onge, Judith;
- Bruel, Ange-Line;
- Thevenon, Julien;
- González-Granero, Susana;
- Alby, Caroline;
- Munnich, Arnold;
- Vekemans, Michel
Publication type:
Article
P63‐related disorders: Dermatological characteristics in 22 patients.
Published in:
Experimental Dermatology, 2019, v. 28, n. 10, p. 1190, doi. 10.1111/exd.14045
By:
- Maillard, Alexia;
- Alby, Caroline;
- Gabison, Eric;
- Doan, Serge;
- Caux, Frédéric;
- Bodemer, Christine;
- Hadj‐Rabia, Smail
Publication type:
Article
A neuropathological study of novel <italic>RTTN</italic> gene mutations causing a familial microcephaly with simplified gyral pattern.
Published in:
Birth Defects Research, 2018, v. 110, n. 7, p. 598, doi. 10.1002/bdr2.1204
By:
- Chartier, Suzanne;
- Alby, Caroline;
- Boutaud, Lucile;
- Thomas, Sophie;
- Elkhartoufi, Nadia;
- Martinovic, Jelena;
- Kaplan, Josseline;
- Benachi, Alexandra;
- Lacombe, Didier;
- Sonigo, Pascale;
- Drunat, Séverine;
- Vekemans, Michel;
- Agenor, Joël;
- Encha Razavi, Férechté;
- Attie‐Bitach, Tania
Publication type:
Article
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Published in:
Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
By:
- Alby, Caroline;
- Boutaud, Lucile;
- Bonnière, Maryse;
- Collardeau-Frachon, Sophie;
- Guibaud, Laurent;
- Lopez, Estelle;
- Bruel, Ange-Line;
- Aral, Bernard;
- Sonigo, Pascale;
- Roth, Philippe;
- Vibert-Guigue, Claude;
- Castaigne, Vanina;
- Carbonne, Bruno;
- Joye, Nicole;
- Faivre, Laurence;
- Cordier, Marie-Pierre;
- Gelot, Antoinette Bernabe;
- Clementi, Maurizio;
- Mammi, Isabella;
- Vekemans, Michel
Publication type:
Article
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
Published in:
Birth Defects Research, 2017, v. 109, n. 19, p. 1586, doi. 10.1002/bdr2.1093
By:
- Darouich, Sihem;
- Boutaud, Lucile;
- Bessières, Bettina;
- Bonnière, Maryse;
- Martinovic, Jelena;
- Mechler, Charlotte;
- Alby, Caroline;
- Bernard, Jean‐Pierre;
- Roth, Philippe;
- Ville, Yves;
- Malan, Valerie;
- Vekemans, Michel;
- Attié‐Bitach, Tania;
- Encha‐Razavi, Férechté
Publication type:
Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
By:
- Depienne, Christel;
- Nava, Caroline;
- Keren, Boris;
- Heide, Solveig;
- Passemard, Sandrine;
- Moutard, Marie-Laure;
- Amor, David;
- Billette de Villemeur, Thierry;
- Doummar, Diane;
- Alby, Caroline;
- Cormier-Daire, Valérie;
- Saint-Martin, Anne;
- Hirsch, Edouard;
- Faivre, Laurence;
- Burglen, Lydie;
- Odent, Sylvie;
- Delrue, Marie-Ange;
- Caignec, Cédric;
- Isidor, Bertrand;
- Renaldo, Florence
Publication type:
Article
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Published in:
2022
By:
- Delalande, Jean Marie;
- Nagy, Nandor;
- McCann, Conor J.;
- Natarajan, Dipa;
- Cooper, Julie E.;
- Carreno, Gabriela;
- Dora, David;
- Campbell, Alison;
- Laurent, Nicole;
- Kemos, Polychronis;
- Thomas, Sophie;
- Alby, Caroline;
- Attié-Bitach, Tania;
- Lyonnet, Stanislas;
- Logan, Malcolm P.;
- Goldstein, Allan M.;
- Davey, Megan G.;
- Hofstra, Robert M. W.;
- Thapar, Nikhil;
- Burns, Alan J.
Publication type:
Correction Notice
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Published in:
Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.757646
By:
- Delalande, Jean Marie;
- Nagy, Nandor;
- McCann, Conor J.;
- Natarajan, Dipa;
- Cooper, Julie E.;
- Carreno, Gabriela;
- Dora, David;
- Campbell, Alison;
- Laurent, Nicole;
- Kemos, Polychronis;
- Thomas, Sophie;
- Alby, Caroline;
- Attié-Bitach, Tania;
- Lyonnet, Stanislas;
- Logan, Malcolm P.;
- Goldstein, Allan M.;
- Davey, Megan G.;
- Hofstra, Robert M. W.;
- Thapar, Nikhil;
- Burns, Alan J.
Publication type:
Article
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Published in:
Birth Defects Research, 2021, v. 113, n. 18, p. 1324, doi. 10.1002/bdr2.1950
By:
- Chartier, Suzanne;
- Boutaud, Lucile;
- Le Guillou, Edouard;
- Alby, Caroline;
- Billon, Clarisse;
- Millischer, Anne‐Elodie;
- Caillaud, Catherine;
- Galmiche, Louise;
- Mechler, Charlotte;
- Sonigo, Pascale;
- Boddaert, Nathalie;
- Lyonnet, Stanislas;
- Rondeau, Sophie;
- Bole‐Feysot, Christine;
- Masson, Cécile;
- Ville, Yves;
- Roth, Philippe;
- Desguerre, Isabelle;
- Encha‐Razavi, Férechté;
- Attie‐Bitach, Tania
Publication type:
Article
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.
Published in:
Acta Dermato-Venereologica, 2020, v. 100, n. 2, p. 1, doi. 10.2340/00015555-3404
By:
- HARJAMA, Liisa;
- KETTUNEN, Kaisa;
- ELOMAA, Outi;
- EINARSDOTTIR, Elisabet;
- HEIKKILÄ, Hannele;
- KIVIRIKKO, Sirpa;
- LAPPALAINEN, Katriina;
- SAARELA, Janna;
- ALBY, Caroline;
- RANKI, Annamari;
- KERE, Juha;
- HADJ-RABIA, Smail;
- HANNULA-JOUPPI, Katariina
Publication type:
Article
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.
Published in:
2022
By:
- Fertitta, Laura;
- Charbit-Henrion, Fabienne;
- Leclerc-Mercier, Stéphanie;
- Nguyen-Khoa, Thao;
- Baran, Robert;
- Alby, Caroline;
- Steffann, Julie;
- Sermet-Gaudelus, Isabelle;
- Hadj-Rabia, Smail
Publication type:
Case Study

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