Clinical Utility Gene Card for: incontinentia pigmenti

od Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Royer, Ghislaine, Bonnefont, Jean-Paul, Ursini, Matilde Valeria
Izdano 2013

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

od Steffann, Julie, Michot, Caroline, Borghese, Roxana, Baptista-Fernandes, Marcia, Monnot, Sophie, Bonnefont, Jean-Paul, Munnich, Arnold
Izdano 2014

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

od Philippe, Anne, Craus, Yann, Rio, Marlène, Bahi-Buisson, Nadia, Boddaert, Nathalie, Malan, Valérie, Bonnefont, Jean-Paul, Robel, Laurence
Izdano u BMC Psychiatry (2015)

Clinical utility gene card: for incontinentia pigmenti

od Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Bonnefont, Jean-Paul, De Oliveira, Judite, Lioi, Maria Brigida, Ursini, Matilde Valeria
Izdano u Eur J Hum Genet (2019)

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy

od Burlet, Philippe, Gigarel, Nadine, Magen, Maryse, Drunat, Séverine, Benachi, Alexandra, Hesters, Laetitia, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie
Izdano 2010

Expanding the clinical spectrum of MTTF mutations

od Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Izdano u Mol Genet Metab Rep (2019)

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

od Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Izdano u Mol Genet Metab Rep (2019)

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

od Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
Izdano u Mol Genet Metab Rep (2019)

Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood

od Vona, Giovanna, Béroud, Christophe, Benachi, Alexandra, Quenette, Alice, Bonnefont, Jean Paul, Romana, Serge, Dumez, Yves, Lacour, Bernard, Paterlini-Bréchot, Patrizia
Izdano 2002

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

od Scherer, Stephen W., Gripp, Karen W., Lucena, Jaume, Nicholson, Linda, Bonnefont, Jean-Paul, Pérez-Jurado, Luis A., Osborne, Lucy R.
Izdano 2005

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

od Valnot, Isabelle, Osmond, Sandrine, Gigarel, Nadine, Mehaye, Blandine, Amiel, Jeanne, Cormier-Daire, Valérie, Munnich, Arnold, Bonnefont, Jean-Paul, Rustin, Pierre, Rötig, Agnès
Izdano 2000

Myeloperoxidase Promoter Polymorphism −463G Is Associated With More Severe Clinical Expression of Cystic Fibrosis Pulmonary Disease

od Reynolds, Wanda F., Sermet-Gaudelus, Isabelle, Gausson, Valérie, Feuillet, Marie-Noëlle, Bonnefont, Jean-Paul, Lenoir, Gérard, Descamps-Latscha, Béatrice, Witko-Sarsat, Véronique
Izdano 2006

Refined Characterization of the Expression and Stability of the SMN Gene Products

od Vitte, Jérémie, Fassier, Coralie, Tiziano, Francesco D., Dalard, Cécile, Soave, Sabrina, Roblot, Natacha, Brahe, Christine, Saugier-Veber, Pascale, Bonnefont, Jean Paul, Melki, Judith
Izdano 2007

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

od Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Izdano 2010

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

od Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence
Izdano 2013

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

od Monnot, Sophie, Gigarel, Nadine, Samuels, David C, Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoit, Martinovic, Jelena, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie
Izdano 2011

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans

od Gigarel, Nadine, Hesters, Laetitia, Samuels, David C., Monnot, Sophie, Burlet, Philippe, Kerbrat, Violaine, Lamazou, Frédéric, Benachi, Alexandra, Frydman, René, Feingold, Josué, Rotig, Agnes, Munnich, Arnold, Bonnefont, Jean-Paul, Frydman, Nelly, Steffann, Julie
Izdano 2011

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

od Delphin, Nathalie, Hanein, Sylvain, Taie, Lucas Fares, Zanlonghi, Xavier, Bonneau, Dominique, Moisan, Jean-Paul, Boyle, Christine, Nitschke, Patrick, Pruvost, Solenn, Bonnefont, Jean-Paul, Munnich, Arnold, Roche, Olivier, Kaplan, Josseline, Rozet, Jean-Michel
Izdano 2012

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

od Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Izdano 2013

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

od Barcia, Giulia, Rio, Marlène, Assouline, Zahra, Zangarelli, Coralie, Roux, Charles-Joris, de Lonlay, Pascale, Steffann, Julie, Desguerre, Isabelle, Munnich, Arnold, Bonnefont, Jean-Paul, Boddaert, Nathalie, Rötig, Agnès, Metodiev, Metodi D., Ruzzenente, Benedetta
Izdano u Eur J Hum Genet (2020)