C. Lacoste

发表

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

L. Vercueil, A. Afenjar, S. Auvin, 2013, Orphanet Journal of Rare Diseases.

Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

A. Munnich, N. Philip, H. Van Esch, 2006, Clinical genetics.

Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis

P. Cony-Makhoul, C. Bastard, C. Preudhomme, 2015, American journal of hematology.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.

J. Sarles, N. André, N. Lévy, 2009, Journal of pediatric gastroenterology and nutrition.

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

J. Thevenon, R. Nabbout, D. Ville, 2022, European journal of medical genetics.

Efficacy of Colchicine in Non-Hospitalized Patients with COVID-19

D. Gaudet, S. Lévesque, J. Tardif, 2021, medRxiv.

Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures

S. Julia, A. Afenjar, O. Dulac, 2019, Epilepsia.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

A New ATRX Mutation in a Patient With Acquired α-Thalassemia Myelodysplastic Syndrome

P. Maboudou, C. Rose, C. Lacoste, 2012, Hemoglobin.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation

A. Laquérriere, L. Villard, S. Moutton, 2017, Neuropathology and applied neurobiology.

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.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity

L. Aniksztejn, J. Devaux, L. Villard, 2016, Epilepsia.

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

K. Grzeschik, E. Chouery, A. Mégarbané, 2012, Archives of dermatology.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

Breast Actinomyces neuii abscess simulating primary malignancy: A case diagnosed by fine‐needle aspiration

J. Klijanienko, C. Nos, C. Lacoste, 2009, Diagnostic cytopathology.

Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood.

C. Bodemer, J. Merlio, F. Boralevi, 2016, JAMA dermatology.

First case of γ-thalassemia in association with a βS allele: a pitfall in the neonatal screening for sickle cell disease

N. Lévy, I. Thuret, C. Lacoste, 2008, Haematologica.

[Next-generation DNA sequencing in clinical diagnostics].

C Lacoste, A Fabre, C Pécheux, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Malignant Melanoma Arising in Patients with a Large Congenital Melanocytic Naevus: Retrospective Study of 10 Cases with Cytogenetic Analysis.

C. Bodemer, N. Dupin, M. Avril, 2015, Acta dermato-venereologica.

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Caroline Lacoste, Christophe Béroud, Véronique Picard, 2015, Blood.

[Leg ulcer associated with type I cryoglobulinaemia due to incipient B-cell lymphoma].

C. Copie-Bergman, P. Gaulard, C. Haioun, 2013, Annales de dermatologie et de venereologie.

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

Partial duplications of the ATRX gene cause the ATR-X syndrome

K. Devriendt, J. Vermeesch, B. Thienpont, 2007, European Journal of Human Genetics.

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

F. Giuliano, B. Leheup, D. Mowat, 2014, Clinical genetics.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

J. Sarles, N. André, J. Hugot, 2012, American journal of human genetics.

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

L. Borrego, C. Lacoste, C. Badens, 2017, European journal of medical genetics.

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

E. Chouery, A. Mégarbané, J. Fayyad, 2012, Journal of intellectual disability research : JIDR.

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA

N. Philip, N. Lévy, K. Maclean, 2009, Clinical genetics.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015, Neurobiology of Disease.

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

N. Lévy, F. Blanc, A. D. de Paula, 2021, European journal of medical genetics.

Nivolumab-induced alopecia areata: A reversible factor of good prognosis?

C. Lebbé, C. Lacoste, B. Baroudjian, 2018, JAAD case reports.

A recurrent KCNQ 2 pore mutation causing early onset epileptic encephalopathy has amoderate effect onM current but alters subcellular localization of Kv 7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015 .

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.