C. Vilain

发表

G. Vassart, C. Vilain, 2004, Methods in molecular biology.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.

J. Parma, G. Vassart, G. Decaux, 2007, Journal of the American Society of Nephrology : JASN.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

A. Vanderver, C. Bodemer, B. Gener, 2013, The Lancet Neurology.

Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1

S. Coppens, P. van Bogaert, C. Vilain, 2022, American journal of medical genetics. Part A.

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

J. Parma, M. Abramowicz, S. Costagliola, 2004, The Journal of clinical endocrinology and metabolism.

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

J. Parma, M. Abramowicz, S. Costagliola, 2001, The Journal of clinical endocrinology and metabolism.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

K. Kadler, M. Abramowicz, N. van Regemorter, 2013, Human molecular genetics.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

A. Biraben, L. Valton, A. Vermersch, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Dymeclin de fi ciency causes postnatal microcephaly , hypomyelination and reticulum-to-Golgi traf fi cking defects in mice and humans

G. Ball, P. Gressens, F. Perez, 2015 .

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

T. de Ravel, K. Devriendt, B. Menten, 2014, European journal of medical genetics.

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

A. Verloes, P. David, P. van Bogaert, 2002, American journal of medical genetics.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

R. Helaers, M. Vikkula, S. Schmitz, 2021, Orphanet Journal of Rare Diseases.

Digestive involvement in a severe form of Snyder-Robinson syndrome: possible expansion of the phenotype.

C. Vilain, J. Soblet, V. Catros, 2020, European journal of medical genetics.

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

W. Chung, C. Cytrynbaum, N. Brunetti‐Pierri, 2013, Human mutation.

“Benign” myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency

N. Gaspard, A. Suls, P. Bogaert, 2011, Epileptic disorders : international epilepsy journal with videotape.

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

S. Coppens, S. Goldman, A. Aeby, 2020, American journal of medical genetics. Part A.

[Use of very low doses of intravenous immunoglobulins for the treatment of bullous pemphigoid].

F. Oksman, J. Albarède, C. Vilain, 1987, Presse medicale.

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Sandeep Kumar Dhanda, S. Pfister, P. Vahteristo, 2022, Journal of Medical Genetics.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

N. Simonis, G. Mortier, Nelle Lambert, 2013, Journal of Medical Genetics.

A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder

Nelle Lambert, M. Abramowicz, B. Pichon, 2014, Autism research : official journal of the International Society for Autism Research.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

Variable expressivity in Buschke-Ollendorff syndrome.

G. Smits, C. Dangoisse, C. Vilain, 2021, Annales de dermatologie et de venereologie.

Investigating the genetic basis of fever‐associated syndromic epilepsies using copy number variation analysis

H. Mefford, U. Stephani, H. Muhle, 2015, Epilepsia.

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

S. Baijot, G. Smits, N. Deconinck, 2017, American journal of medical genetics. Part A.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

M. Cassart, J. Désir, C. Vilain, 2021, Clinical case reports.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Small amplified RNA-SAGE: an alternative approach to study transcriptome from limiting amount of mRNA.

S. Costagliola, G. Vassart, F. Libert, 2003, Nucleic acids research.

Decrease of telomere length in thyroid adenomas without telomerase activity.

J. Dumont, F. Miot, C. Vilain, 1998, The Journal of clinical endocrinology and metabolism.

The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

I. Balikova, C. Heinrichs, C. Vilain, 2021, Frontiers in Endocrinology.

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

J. Désir, N. D’haene, C. Vilain, 2017, Case reports in pediatrics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

P. van Bogaert, A. Aeby, J. Jaeken, 2016, Epileptic disorders : international epilepsy journal with videotape.

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

G. Ball, P. Gressens, F. Perez, 2015, Human molecular genetics.

Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant

G. Smits, C. Vilain, G. Deprez, 2021, Pediatric reports.

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

M. Abramowicz, I. Pirson, P. van Bogaert, 2012, Clinical genetics.

A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases

Stephen H. Bell, M. Abramowicz, S. Allan, 2023, bioRxiv.

Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review

G. Mortier, A. Verloes, C. Baumann, 2009, American journal of medical genetics. Part A.

A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology

S. Coppens, V. Straub, N. Deconinck, 2023, Neuromuscular Disorders.

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.

G. Smits, I. Balikova, P. Mathers, 2019, Journal of Clinical Endocrinology and Metabolism.

[Prevalence of hypothyroidism and hyperthyroidism in temporal arteritis and rhizomelic pseudopolyarthritis. A controlled study of 104 cases].

M. Labarthe, C. Vilain, S. Ollier, 1993, Revue du rhumatisme.

Focal Cortical Presentations Genetically Proven Alzheimer Disease

M. Abramowicz, G. Naeije, J. Bier, 2011 .

Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy

A. Aeby, J. König, C. Vilain, 2022, Annals of clinical and translational neurology.

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

T. de Ravel, M. Abramowicz, S. Janssens, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism.

K. Devriendt, I. Casteels, G. Smits, 2023, European journal of medical genetics.

[Malignant rheumatoid nodulitis or Wegener's disease? Apropos of a case].

C. Vilain, D. Adoue, J. Voigt, 1987, Revue du rhumatisme et des maladies osteo-articulaires.

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

K. Devriendt, G. Mortier, H. Van Esch, 2021, Molecular genetics & genomic medicine.

[Chronic relapsing polychondritis. Clinical characteristics].

C. Vilain, J. Pris, P. Arlet, 1989, Presse medicale.

Iodotyrosine deiodinase defect identified via genome-wide approach.

M. Abramowicz, A. Burniat, B. Corvilain, 2012, The Journal of clinical endocrinology and metabolism.

Co-Occurrence of Hypohidrotic Ectodermal Dysplasia and Food Protein-Induced Enterocolitis Syndrome: A Report of a New Ectodysplasin A Variant

C. Vilain, M. Marangoni, D. Salik, 2022, Skin Appendage Disorders.

A new mutation of carbonic anhydrase 8 gene expanding the cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ) subtype 3

A. Aeby, G. Smits, N. Deconinck, 2017, Journal of the Neurological Sciences.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Iodotyrosine deiodinase defect identified via genome-wide approach.

M. Abramowicz, A. Burniat, B. Corvilain, 2012, The Journal of clinical endocrinology and metabolism.