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Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 3, p. e26, doi. 10.1111/epi.12920
By:
- Hartmann, Corinna;
- Spiczak, Sarah;
- Suls, Arvid;
- Weckhuysen, Sarah;
- Buyse, Gunnar;
- Vilain, Catheline;
- Van Bogaert, Patrick;
- De Jonghe, Peter;
- Cook, Joseph;
- Muhle, Hiltrud;
- Stephani, Ulrich;
- Helbig, Ingo;
- Mefford, Heather C.
Publication type:
Article
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1721, doi. 10.1007/s00439-023-02609-2
By:
- Giuili, Edoardo;
- Grolaux, Robin;
- Macedo, Catarina Z. N. M.;
- Desmyter, Laurence;
- Pichon, Bruno;
- Neuens, Sebastian;
- Vilain, Catheline;
- Olsen, Catharina;
- Van Dooren, Sonia;
- Smits, Guillaume;
- Defrance, Matthieu
Publication type:
Article
A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63727
By:
- Neuens, Sebastian;
- Kausar, Maiza;
- Kang, Sun‐Kyoung;
- Soblet, Julie;
- Van Dooren, Sonia;
- Olsen, Catharina;
- Janssen, Toon;
- Caljon, Ben;
- Jun, Chang‐Duk;
- Smits, Guillaume;
- Coppens, Sandra;
- Vilain, Catheline
Publication type:
Article
Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1556, doi. 10.1002/ajmg.a.62653
By:
- Coppens, Sandra;
- Desmyter, Laurence;
- Koch, Manuel;
- Özcelik, Semra;
- O'Heir, Emily;
- Van Bogaert, Patrick;
- Vilain, Catheline;
- Christiaens, Florence
Publication type:
Article
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2685, doi. 10.1002/ajmg.a.61805
By:
- Paternoster, Lionel;
- Soblet, Julie;
- Aeby, Alec;
- De Tiège, Xavier;
- Goldman, Serge;
- Yue, Wyatt W.;
- Coppens, Sandra;
- Smits, Guillaume;
- Vilain, Catheline;
- Deconinck, Nicolas
Publication type:
Article
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 201, doi. 10.1002/ajmg.a.38479
By:
- Soblet, Julie;
- Dimov, Ivan;
- Graf von Kalckreuth, Clemens;
- Cano‐Chervel, Julie;
- Baijot, Simon;
- Pelc, Karin;
- Sottiaux, Martine;
- Vilain, Catheline;
- Smits, Guillaume;
- Deconinck, Nicolas
Publication type:
Article
A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 5, p. 617, doi. 10.1002/aur.1396
By:
- Lambert, Nelle;
- Wermenbol, Vanessa;
- Pichon, Bruno;
- Acosta, Sandra;
- Ameele, Jelle;
- Perazzolo, Camille;
- Messina, Diana;
- Musumeci, Maria ‐ Franca;
- Dessars, Barbara;
- De Leener, Anne;
- Abramowicz, Marc;
- Vilain, Catheline
Publication type:
Article
Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 9, p. 4285, doi. 10.1210/jc.2004-0166
By:
- MEEUS, LAURENT;
- GILBERT, BRIGITTE;
- RYDLEWSKI, CATHERINE;
- PARMA, JASMINE;
- ROUSSIE, ANNE LIENHARDT;
- ABRAMOWICZ, MARC;
- VILAIN, CATHELINE;
- CHRISTOPHE, DANIEL;
- COSTAGLIOLA, SABINE;
- VASSART, GILBERT
Publication type:
Article
Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 1, p. 234, doi. 10.1210/jcem.86.1.7140
By:
- VILAIN, CATHELINE;
- RYDLEWSKI, CATHERINE;
- DUPREZ, LAURENCE;
- HEINRICHS, CLAUDINE;
- ABRAMOWICZ, MARC;
- MALVAUX, PAUL;
- RENNEBOOG, BENOÎT;
- PARMA, JASMINE;
- COSTAGLIOLA, SABINE;
- VASSART, GILBERT
Publication type:
Article
New variant in deficiency of interleukin‐36 receptor antagonist syndrome (DITRA).
Published in:
International Journal of Dermatology, 2021, v. 60, n. 7, p. 899, doi. 10.1111/ijd.15522
By:
- Salik, Déborah;
- Zoghaib, Samer;
- Dangoisse, Chantal;
- Sass, Ursula;
- Kolivras, Athanasios;
- Soblet, Julie;
- Vilain, Catheline
Publication type:
Article
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 9, p. 1237, doi. 10.1515/jpem-2020-0207
By:
- Brachet, Cécile;
- Gernay, Caroline;
- Boros, Emese;
- Soblet, Julie;
- Vilain, Catheline;
- Heinrichs, Claudine
Publication type:
Article
Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant.
Published in:
European Journal of Endocrinology, 2024, v. 191, n. 2, p. K5, doi. 10.1093/ejendo/lvae100
By:
- Boros, Emese;
- Vilain, Catheline;
- Driessens, Natacha;
- Heinrichs, Claudine;
- Vliet, Guy Van;
- Brachet, Cécile
Publication type:
Article
Small amplified RNA‐SAGE: an alternative approach to study transcriptome from limiting amount of mRNA.
Published in:
Nucleic Acids Research, 2003, v. 31, n. 6, p. e24, doi. 10.1093/nar/gng024
By:
- Vilain, Catheline;
- Libert, Frederick;
- Venet, David;
- Costagliola, Sabine;
- Vassart, Gilbert
Publication type:
Article
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
Published in:
Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.729056
By:
- Ulgiati, Fiorenza;
- Lhoir, Sophie;
- Balikova, Irina;
- Tenoutasse, Sylvie;
- Boros, Emese;
- Vilain, Catheline;
- Heinrichs, Claudine;
- Brachet, Cécile
Publication type:
Article
Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant.
Published in:
2021
By:
- D'Amico, Giovanna;
- De Laet, Corinne;
- Smits, Guillaume;
- Salik, Deborah;
- Deprez, Guillaume;
- Vilain, Catheline;
- Perlot, Pascale;
- Vicinanza, Alfredo
Publication type:
Case Study
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Published in:
2021
By:
- Brouillard, Pascal;
- Schlögel, Matthieu J.;
- Homayun Sepehr, Nassim;
- Helaers, Raphaël;
- Queisser, Angela;
- Fastré, Elodie;
- Boutry, Simon;
- Schmitz, Sandra;
- Clapuyt, Philippe;
- Hammer, Frank;
- Dompmartin, Anne;
- Weitz-Tuoretmaa, Annamaria;
- Laranne, Jussi;
- Pasquesoone, Louise;
- Vilain, Catheline;
- Boon, Laurence M.;
- Vikkula, Miikka
Publication type:
journal article
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.
Published in:
2021
By:
- Balza, Claire;
- Garofalo, Giulia;
- Cos, Teresa;
- Désir, Julie;
- Kang, Xin;
- Keymolen, Kathelijn;
- Soblet, Julie;
- Van Berkel, Kim;
- Vilain, Catheline;
- Ben Abbou, Wafa;
- Cassart, Marie
Publication type:
Case Study
Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1095, doi. 10.1002/acn3.51581
By:
- Santalucia, Roberto;
- Vilain, Catheline;
- Soblet, Julie;
- De Laet, Corinne;
- Vuckovic, Aline;
- König, Jörg;
- Aeby, Alec
Publication type:
Article
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Published in:
Pediatric Dermatology, 2022, v. 39, n. 4, p. 590, doi. 10.1111/pde.14976
By:
- Salik, Deborah;
- Hadj‐Rabia, Smail;
- Hohl, Daniel;
- Vahidnezhad, Hassan;
- Youssefian, Leila;
- Rakosi, Adèle;
- Dangoisse, Chantal;
- Marangoni, Martina;
- Vilain, Catheline;
- Smits, Guillaume
Publication type:
Article
First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.
Published in:
Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/9523427
By:
- Kadhim, Hazim;
- Segers, Valérie;
- Vilain, Catheline;
- Désir, Julie;
- D’Haene, Nicky
Publication type:
Article
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 6, p. 901, doi. 10.1093/hmg/ddab298
By:
- Macha, Arthur;
- Liebsch, Filip;
- Fricke, Steffen;
- Hetsch, Florian;
- Neuser, Franziska;
- Johannes, Lena;
- Kress, Vanessa;
- Djémié, Tania;
- Santamaria-Araujo, Jose A;
- Vilain, Catheline;
- Aeby, Alec;
- Bogaert, Patrick Van;
- Dejanovic, Borislav;
- Weckhuysen, Sarah;
- Meier, Jochen C;
- Schwarz, Guenter
Publication type:
Article
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 10, p. 2771, doi. 10.1093/hmg/ddv038
By:
- Dupuis, Nina;
- Fafouri, Assia;
- Bayot, Aurélien;
- Kumar, Manoj;
- Lecharpentier, Tifenn;
- Ball, Gareth;
- Edwards, David;
- Bernard, Véronique;
- Dournaud, Pascal;
- Drunat, Séverine;
- Vermelle-Andrzejewski, Marie;
- Vilain, Catheline;
- Abramowicz, Marc;
- Désir, Julie;
- Bonaventure, Jacky;
- Gareil, Nelly;
- Boncompain, Gaelle;
- Csaba, Zsolt;
- Perez, Franck;
- Passemard, Sandrine
Publication type:
Article
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 283, doi. 10.1093/hmg/ddt418
By:
- Murray, Lydia S.;
- Lu, Yinhui;
- Taggart, Aislynn;
- Van Regemorter, Nicole;
- Vilain, Catheline;
- Abramowicz, Marc;
- Kadler, Karl E.;
- Van Agtmael, Tom
Publication type:
Article
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia.
Published in:
Movement Disorders, 2024, v. 39, n. 6, p. 983, doi. 10.1002/mds.29754
By:
- Kaiyrzhanov, Rauan;
- Ortigoza‐Escobar, Juan Darío;
- Stringer, Brett W.;
- Ganieva, Manizha;
- Gowda, Vykuntaraju K.;
- Srinivasan, Varunvenkat M.;
- Macaya, Alfons;
- Laner, Andreas;
- Onbool, Enas;
- Al‐Shammari, Randa;
- Al‐Owain, Mohammed;
- Deconinck, Nicolas;
- Vilain, Catheline;
- Dontaine, Pauline;
- Self, Eleanor;
- Akram, Rabia;
- Hussain, Ghulam;
- Baig, Shahid Mahmood;
- Iqbal, Javed;
- Salpietro, Vincenzo
Publication type:
Article
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2925, doi. 10.1210/jc.2018-02316
By:
- Brachet, Cécile;
- Kozhemyakina, Elena A.;
- Boros, Emese;
- Heinrichs, Claudine;
- Balikova, Irina;
- Soblet, Julie;
- Smits, Guillaume;
- Vilain, Catheline;
- Mathers, Peter H.
Publication type:
Article
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
Published in:
2019
By:
- Brachet, C;
- Kozhemyakina, E;
- Boros, E;
- Heinrichs, C;
- Balikova, I;
- Soblet, J;
- Smits, G;
- Vilain, C;
- Mathers, P H;
- Brachet, Cécile;
- Kozhemyakina, Elena A;
- Boros, Emese;
- Heinrichs, Claudine;
- Balikova, Irina;
- Soblet, Julie;
- Smits, Guillaume;
- Vilain, Catheline;
- Mathers, Peter H
Publication type:
journal article

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