Bonnefont, Jean-Paul

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

BONNEFONT, J. (2004) · Molecular Aspects of Medicine

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 637

Pearson's marrow–pancreas syndrome. A multisystem mitochondrial disorder in infancy

Rötig, A., Cormier, V, Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., & Saudubray, J. M. (1990) · Journal of Clinical Investigation

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 461

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., et al. (2011) · Human Mutation

dental development and anomaliesGenetic and rare skin diseases.

Cited by 311

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states

Bonnefont, J. P., Specola, N. B., Vassault, A., Lombes, A., Ogier, H., de Klerk, J. B. C., Munnich, A., Coude, M., Paturneau-Jouas, M., & Saudubray, J. M. (1990) · European Journal of Pediatrics

Metabolism and Genetic DisordersDiet and metabolism studies

Cited by 168

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

Steffann, J., Frydman, N., Gigarel, N., Burlet, P., Ray, P. F., Fanchin, R., Feyereisen, E., Kerbrat, V, Tachdjian, G., Bonnefont, J.-P., et al. (2006) · Journal of Medical Genetics

Prenatal Screening and DiagnosticsMitochondrial Function and Pathology

Cited by 145

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., et al. (2018) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 75

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

Hadj-Rabia, S., Rimella, A., Smahi, A., Fraitag, S., Hamel-Teillac, D., Bonnefont, J.-P., de Prost, Y., & Bodemer, C. (2011) · Journal of the American Academy of Dermatology

Genetic and rare skin diseases.Skin and Cellular Biology Research

Cited by 57

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

Steffann, J., Jouannet, P., Bonnefont, J.-P., Chneiweiss, H., & Frydman, N. (2018) · Cell Stem Cell

Prenatal Screening and DiagnosticsCRISPR and Genetic Engineering

Cited by 47