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51

Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep?

Mathieu, M.-L., de Bellescize, J., Till, M., Labalme, A., Chatron, N., Sanlaville, D., Ostrowsky-Coste, K., Des Portes, V., Lesca, G.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 40 KB

english, 2017

52

West syndrome due to compound heterozygous QARS mutations

Poulat, A.L., Lesca, G., Chatron, N., Labalme, A., Des Portes, V., Sanlaville, D., De Bellescize, J., Ville, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

53

Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism

Faoucher, M., Putoux, A., Francannet, C., Poulat, A.L., Chatron, N., Aquaviva, C., Labalme, A., Schluth-Bolard, C., Till, M., Saban, C., Desportes, V., Sanlaville, D., Edery, P., Lesca, G.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

54

Epileptic encephalopathy caused by BRAT1 mutations: Description of a novel patient

Putoux, Audrey, Chatron, Nicolas, Eyraud-Rousselle, Anne-Sophie, Labalme, Audrey, Streichenberger, Nathalie, Meyronet, David, De-Regnauld-De-Bellescize, Julitta, Sanlaville, Damien, Edery, Patrick, Le

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 55 KB

english, 2017

55

Mosaic variegated aneuploidy syndrome: Case report of two brothers

Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Pugeat, Michel, Nicolino, Marc, Till, Marianne, Lesca, Gaetan, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline, Putoux, Audrey

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

56

Diagnosis of biotin-thiamine-responsive basal ganglia disease by whole-exome sequencing in a family with Leigh's syndrome

Rousselle, Christophe, Labalme, Audrey, Chatron, Nicolas, Gonnaud, Pierre-Marie, Devic, Perrine, Sanlaville, Damien, Lesca, Gaetan

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 168 KB

english, 2017

57

Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

Chatron, N., Møller, R.S., Champaigne, N.L., Kuechler, A., Labalme, A., Baggett, L., Wieczorek, D., Portes, V. des, Edery, P., Gardella, E., Scheffer, I.E., Mefford, H., Sanlaville, D., Carvill, G.L.,

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

58

Identification of the functional states of human vitamin K epoxide reductase from molecular dynamics simulations

Chatron, N., Chalmond, B., Trouvé, A., Benoît, E., Caruel, H., Lattard, V., Tchertanov, L.

Journal:

Year:

2017

Language:

english

File:

PDF, 2.57 MB

english, 2017

59

Cancer du poumon et transplantation pulmonaire. À propos de l’expérience du centre de Strasbourg

Chatron, E., Degot, T., Salvaterra, E., Dumazet, A., Porzio, M., Renaud-Picard, B., Hirschi, S., Schuller, A., Massard, G., Kessler, R.

Journal:

Revue des Maladies Respiratoires

Year:

2018

Language:

french

File:

PDF, 60 KB

french, 2018

60

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide He Forest?

Demily, Caroline, Lesca, Gaétan, Poisson, Alice, Till, Marianne, Barcia, Giulia, Chatron, Nicolas, Sanlaville, Damien, Munnich, Arnold

Journal:

Journal of Autism and Developmental Disorders

Year:

2018

Language:

english

File:

PDF, 843 KB

english, 2018

61

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Chatron, Nicolas, Møller, Rikke S., Champaigne, Neena L., Schneider, Amy L., Kuechler, Alma, Labalme, Audrey, Simonet, Thomas, Baggett, Lauren, Bardel, Claire, Kamsteeg, Erik-Jan, Pfundt, Rolph, Roman

Journal:

Annals of Neurology

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

62

SAT0318 Could Adrenomedullin be Considered as a Treatment for Osteoarthritis?

Chatron-Colliet, A., Velard, F., Côme, D., Lin, H., Ea, H. K., Lioté, F.

Journal:

Annals of the Rheumatic Diseases

Year:

2013

Language:

english

File:

PDF, 246 KB

english, 2013

63

Chronic thromboembolic pulmonary hypertension in cancer patients with pulmonary embolism

Catella-Chatron, J., Merah, A., De Magalhaes, E., Moulin, N., Accassat, S., Duvillard, C., Mismetti, P., Bertoletti, L.

Journal:

Thrombosis Research

Year:

2018

Language:

english

File:

PDF, 205 KB

english, 2018

64

IPD2.10 Observational study of glucose tolerance abnormalities in patients with cystic fibrosis homozygous for Phe508del CFTR treated by lumacaftor-ivacaftor

Misgault, B., Chatron, E., Durieu, I., Mely, L., Abely, M., Bounyar, L., Porzio, M., Weiss, L., Kessler, R., Kessler, L.

Journal:

Journal of Cystic Fibrosis

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

65

Electrical status epilepticus in sleep, a constitutive feature of Christianson Syndrome?

Mathieu, Marie-Laure, de Bellescize, Julitta, Till, Marianne, Flurin, Vincent, Labalme, Audrey, Chatron, Nicolas, Sanlaville, Damien, Chemaly, Nicole, Portes, Vincent des, Ostrowsky, Karine, Arzimanog

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 8.24 MB

english, 2018

66

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration

Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Till, Marianne, Broussolle, Emmanuel, Sanlaville, Damien, Demily, Caroline, Lesca, Gaetan

Journal:

Biological Psychiatry

Year:

2018

Language:

english

File:

PDF, 629 KB

english, 2018

67

Validation d’un guide d’entretien pour le suivi des patients traités par chimiothérapie orale

de Chevigny, Alix, Chatron, Claire, Morvillez, Ludivine, Prevost, Virginie, Chédru-Legros, Valérie

Journal:

Actualités Pharmaceutiques

Year:

2018

Language:

french

File:

PDF, 332 KB

french, 2018

68

Performance of Semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidies: results from a multicenter prospective cohort study in a clinical setting

El Khattabi, Laïla Allach, Brun, Stéphanie, Gueguen, Paul, Chatron, Nicolas, Guichoux, Erwan, Schutz, Sacha, Nectoux, Juliette, Sorlin, Arthur, Quere, Manal, Boudjarane, John, Tsatsaris, Vassilis, Man

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2018

Language:

english

File:

PDF, 1015 KB

english, 2018

69

The CFHQSIR survey: a Y -band extension of the CFHTLS-Wide survey

Pipien, S., Basa, S., Cuby, J.-G., Cuillandre, J.-C., Willott, C., Moutard, T., Chatron, J., Arnouts, S., Hudelot, P.

Journal:

Astronomy and Astrophysics

Year:

2018

Language:

english

File:

PDF, 30.38 MB

english, 2018

70

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome

Poisson, Alice, Lesca, Gaetan, Chatron, Nicolas, Demily, Caroline, Favre, Emilie, Cottin, Vincent, Gamondes, Delphine, Sanlaville, Damien, Edery, Patrick, Giraud, Sophie, Dupuis-Girod, Sophie

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 791 KB

english, 2018

71

Lung cancer after lung transplantation: an analysis of 25 years of experience in a single institution

Chatron, Eva, Dégot, Tristan, Salvaterra, Elena, Dumazet, Antoine, Porzio, Michele, Hirschi, Sandrine, Schuller, Armelle, Massard, Gilbert, Renaud-Picard, Benjamin, Kessler, Romain

Journal:

Clinical Transplantation

Year:

2018

Language:

english

File:

PDF, 612 KB

english, 2018

72

Clinical spectrum of STX1B -related epileptic disorders

Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh,

Journal:

Year:

2019

Language:

english

File:

PDF, 706 KB

english, 2019

73

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Cap

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 873 KB

2019

74

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Cap

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 873 KB

english, 2019

75

Severe haemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

Journal:

Journal of Thrombosis and Haemostasis

Year:

2019

Language:

english

File:

PDF, 876 KB

english, 2019

76

Indications and potential pitfalls of anticoagulants in pulmonary hypertension: Would DOACs become a better option than VKAs?

Margelidon-Cozzolino, Victor, Delavenne, Xavier, Catella-Chatron, Judith, De Magalhaes, Elodie, Bezzeghoud, Souad, Humbert, Marc, Montani, David, Bertoletti, Laurent

Journal:

Year:

2019

File:

PDF, 1.16 MB

2019

77

Comment on “Trisomy 21 noninvasive prenatal testing for twin pregnancies”

Chatron, Nicolas, Raymond, Laure, Schluth‐Bolard, Caroline, Bardel, Claire, Huissoud, Cyril, Nouchy, Marc, Sanlaville, Damien, Massoud, Mona

Journal:

Prenatal Diagnosis

Year:

2019

File:

PDF, 173 KB

2019

78

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder

Roucher-Boulez, Florence, Mallet, Delphine, Chatron, Nicolas, Dijoud, Frédérique, Gorduza, Daniela Brindusa, Bretones, Patricia, Morel, Yves

Journal:

Frontiers in Endocrinology

Year:

2019

Language:

english

File:

PDF, 1.79 MB

english, 2019

79

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

Chatron, Nicolas, Cabet, Sara, Alix, Eudeline, Buenerd, Annie, Cox, Phillip, Guibaud, Laurent, Labalme, Audrey, Marks, Peter, Osio, Deborah, Putoux, Audrey, Sanlaville, Damien, Lesca, Gaetan, Vasiljev

Journal:

Year:

2019

Language:

english

File:

PDF, 887 KB

english, 2019

80

Une spondylodiscite à Aspergillus chez un patient traité par ibrutinib

Petitdemange, A., Martin, A., Ruch, Y., Chatron, E., Karol, A., Hansmann, Y.

Journal:

Médecine et Maladies Infectieuses

Year:

2019

Language:

french

File:

PDF, 256 KB

french, 2019

81

Guidance for cytological automation in hematology

Gruson, Anne, Chatron, Philippe

Journal:

Annales de Biologie Clinique

Year:

2019

Language:

french

File:

PDF, 133 KB

french, 2019

82

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 676 KB

english, 2019

83

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 676 KB

2019

84

Chimpanzees use tree species with a resonant timbre for accumulative stone throwing

Kalan, Ammie K., Carmignani, Eleonora, Kronland-Martinet, Richard, Ystad, Sølvi, Chatron, Jacques, Aramaki, Mitsuko

Journal:

Biology Letters

Year:

2019

File:

PDF, 739 KB

2019

85

Pneumopathie interstitielle et hypertension pulmonaire au cours de la sclérodermie systémique dans l’étude HYPID

Chauvelot, L., Gamondes, D., Nieves, A., Berthiller, J., Renard, S., Catella-Chatron, J., Ahmad, K., Bertoletti, L., Camara, B., Gomez, E., Launay, D., Montani, D., Mornex, J.F., Polazzi, S., Prévot,

Journal:

Revue des Maladies Respiratoires

Year:

2019

File:

PDF, 292 KB

2019

86

Évaluation des anomalies de la tolérance du glucose chez des patients atteints de mucoviscidose, homozygotes pour la mutation Delta F508 du CFTR, traités par Ivacaftor–Lumacaftor

Chatron, E., Misgault, B., Porzio, M., Kessler, L., Kessler, R.

Journal:

Revue des Maladies Respiratoires

Year:

2019

Language:

french

File:

PDF, 229 KB

french, 2019

87

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Fourneret, Pierre, Ville, Dorothée, Mathieu, Marie Laure, Sanlaville, Damien, Demily, Caroline, Lesca, Gaëtan

Journal:

BMC Medical Genetics

Year:

2020

Language:

english

File:

PDF, 1.23 MB

english, 2020

88

Genome sequencing in cytogenetics: Comparison of shortâread and linkedâread approaches for germline structural variant detection and characterization

Uguen, KÃ©vin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, ValÃ©rie, Dupont, JeanâMichel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, RollatâFarnier, PierreâAntoine, Ba

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 1.09 MB

english, 2020

89

Effect of one-year lumacaftorâivacaftor treatment on glucose tolerance abnormalities in cystic fibrosis patients

Misgault, Bastien, Chatron, Eva, Reynaud, Quitterie, Touzet, Sandrine, Abely, Michel, Melly, Laurent, Dominique, StÃ©phane, Troussier, FranÃ§oise, Ronsin-Pradel, Olivia, Gerardin, MichÃ¨le, Mankikian,

Journal:

Journal of Cystic Fibrosis

Year:

2020

Language:

english

File:

PDF, 450 KB

english, 2020

90

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek

Journal:

Year:

2020

File:

PDF, 1.01 MB

2020

91

Cardiovascular disease events within 5âyears after a diagnosis of breast cancer

Mery, BenoÃ®te, Fouilloux, Antoine, Rowinski, Elise, Catella-Chatron, Judith, Guichard, Jean-Baptiste, Da Costa, Antoine, Tinquaut, Fabien, MagnÃ©, N., Bertoletti, Laurent

Journal:

Year:

2020

File:

PDF, 574 KB

2020

92

Defining and expanding the phenotype of QARS -associated developmental epileptic encephalopathy

Johannesen, Katrine M., Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M., Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter,

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 542 KB

2019

93

MandibularâPelvicâPatellar syndrome (MPP) is a novel PITX1 ârelated disorder due to alteration of PITX1 transactivation ability

Morel, Godelieve, Duhamel, CÃ©line, Boussion, Simon, FrÃ©nois, FrÃ©dÃ©ric, Lesca, Gaetan, Chatron, Nicolas, Labalme, Audrey, Sanlaville, Damien, Edery, Patrick, Thevenon, Julien, Faivre, Laurence, Fas

Journal:

Year:

2020

File:

PDF, 352 KB

2020

94

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, GaÃ«tan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, SoniÃ©, Sandrine, Edery, Patrick

Journal:

Year:

2020

File:

PDF, 753 KB

2020

95

Salmonella Detection in Dried Milk Products by Motility Enrichment on Modified Semisolid Rappaport-Vassiliadis Medium: Collaborative Study

Bolderduk, Robert F, Milas, John E, Asperger, H, Becker, H, Chatron, S, Cordier, J L, DeSmedt, J, Gonzalez, D, Hammers, A, Hoekstra, J, Kanitz, L, McDonagh, S, Nowacki, R, Oggel, J, Quinlan, J, Stolpe

Journal:

Journal of AOAC International

Year:

1996

File:

PDF, 1.01 MB

1996

96

Adrenomedullin and truncated peptide adrenomedullin(22-52) affect chondrocyte response to apoptotis in vitro: downregulation of FAS protects chondrocyte from cell death

Velard, FrÃ©dÃ©ric, Chatron-Colliet, Aurore, CÃ´me, Dominique, Ah-Kioon, Marie-Dominique, Lin, HilÃ¨ne, Hafsia, Narjes, Cohen-Solal, Martine, Ea, Hang-Korng, LiotÃ©, FrÃ©dÃ©ric

Journal:

Scientific Reports

Year:

2020

File:

PDF, 4.24 MB

2020

97

The social and clinical impact of the Covidâ19 epidemic on the Strasbourg lung transplant cohort â a singleâcenter retrospective cohort study

RenaudâPicard, Benjamin, Gallais, Floriane, Riou, Marianne, Chatron, Eva, Degot, Tristan, Freudenberger, Sophie, Porzio, Michele, Schuller, Armelle, Stauder, Julien, Hirschi, Sandrine, Kessler, Roma

Journal:

Clinical Transplantation

Year:

2020

File:

PDF, 12.39 MB

2020

98

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Pugeat, Michel, Till, Marianne, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline, Nicolino, Marc, Lesca, Gaetan, Putoux, Audrey

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 3.09 MB

2020

99

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

Mazzola, Laure, Oliver, Karen L, Labalme, Audrey, Baykan, BetÃ¼l, Muona, Mikko, Joensuu, Tarja H, Courage, Carolina, Chatron, Nicolas, Borsani, Giuseppe, Alix, Eudeline, Ramond, Francis, Touraine, Ren

Journal:

Annals of Neurology

Year:

2020

File:

PDF, 1.46 MB

2020

100

[British Medical Journal Publishing Group 24th EAHP Congress, 27thâ29th March 2019, Barcelona, Spain - ()] Section 4: Clinical Pharmacy Services - 4CPS-162âMedication counselling by clinical pharmacists in newly grafted renal transplant recipients

Landry, A, Goyer, I, Saint-Lorant, G, Baudon-Lecame, M, Chatron, C

Year:

2019

File:

PDF, 66 KB

2019