Search Results - "Bonnefont, J P"

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development by Steffann, J., Monnot, S., Bonnefont, J.-P.

“…Mitochondria are the largest generator of ATP in the cell. It is therefore expected that energy‐requiring processes such as oocyte maturation, early embryonic…”
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Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency by Bonnefont, J P, Bastin, J, Laforêt, P, Aubey, F, Mogenet, A, Romano, S, Ricquier, D, Gobin‐Limballe, S, Vassault, A, Behin, A, Eymard, B, Bresson, J L, Djouadi, F

“…Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder characterized by myalgia, exercise intolerance,…”
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Unique subungueal keratoacanthoma revealing incontinentia pigmenti by Ferneiny, M., Hadj-Rabia, S., Regnier, S., Ortonne, N., Smahi, A., Steffann, J., Bonnefont, J.-P., Fraitag, S., Chosidow, O., Bodemer, C.

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Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia by Al Marzouqi, F., Michot, C., Dos Santos, S., Bonnefont, J.-P., Bodemer, C., Hadj-Rabia, S.

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Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis by Steffann, J, Frydman, N, Gigarel, N, Burlet, P, Ray, P F, Fanchin, R, Feyereisen, E, Kerbrat, V, Tachdjian, G, Bonnefont, J-P, Frydman, R, Munnich, A

“…Background: Diseases arising from mitochondrial DNA (mtDNA) mutations are usually serious pleiotropic disorders with maternal inheritance. Owing to the high…”
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Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation by Leclerc-Mercier, S., Dufernez, F., Fraitag, S., Coulombe, J., Dompmartin, A., Barreau, M., Bozon, D., Lamazière, A., Bonnefont, J.-P., Khalifa, E., Bodemer, C., Hadj-Rabia, S.

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Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre by Kuleva, M, Ben Miled, S, Steffann, J, Bonnefont, JP, Rondeau, S, Ville, Y, Munnich, A, Salomon, LJ

“…Objective To investigate the obstetric outcome of women carriers of the oxidative phosphorylation (OXPHOS) disorder mutation. Design A retrospective cohort…”
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A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency by Lebre, A S, Rio, M, Faivre d'Arcier, L, Vernerey, D, Landrieu, P, Slama, A, Jardel, C, Laforêt, P, Rodriguez, D, Dorison, N, Galanaud, D, Chabrol, B, Paquis-Flucklinger, V, Grévent, D, Edvardson, S, Steffann, J, Funalot, B, Villeneuve, N, Valayannopoulos, V, de Lonlay, P, Desguerre, I, Brunelle, F, Bonnefont, J P, Rötig, A, Munnich, A, Boddaert, N

“…To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction,…”
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Multiple displacement amplification improves PGD for fragile X syndrome by Burlet, P., Frydman, N., Gigarel, N., Kerbrat, V., Tachdjian, G., Feyereisen, E., Bonnefont, J.-P., Frydman, R., Munnich, A., Steffann, J.

“…We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large…”
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Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH by Rio, M, Royer, G, Gobin, S, de Blois, MC, Ozilou, C, Bernheim, A, Nizon, M, Munnich, A, Bonnefont, J-P, Romana, S, Vekemans, M, Turleau, C, Malan, V

“…Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here,…”
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome by Nizon, M., Henry, M., Michot, C., Baumann, C., Bazin, A., Bessières, B., Blesson, S., Cordier-Alex, M.-P., David, A., Delahaye-Duriez, A., Delezoïde, A.-L., Dieux-Coeslier, A., Doco-Fenzy, M., Faivre, L., Goldenberg, A., Layet, V., Loget, P., Marlin, S., Martinovic, J., Odent, S., Pasquier, L., Plessis, G., Prieur, F., Putoux, A., Rio, M., Testard, H., Bonnefont, J.-P., Cormier-Daire, V.

“…Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism…”
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Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome by Steffann, J, Gigarel, N, Corcos, J, Bonnière, M, Encha-Razavi, F, Sinico, M, Prevot, S, Dumez, Y, Yamgnane, A, Frydman, R, Munnich, A, Bonnefont, J P

“…Background: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk…”
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Recognition and management of fatty acid oxidation defects : A series of 107 patients by SAUDUBRAY, J. M, MARTIN, D, BONNEFONT, J. P, RABIER, D, KAMOUN, P, BRIVET, M, DE LONLAY, P, TOUATI, G, POGGI-TRAVERT, F, BONNET, D, JOUVET, P, BOUTRON, M, SLAMA, A, VIANEY-SABAN, C

“…In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation…”
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Post-mortem MRI reveals CPT2 deficiency after sudden infant death by Bouchireb, Karim, Teychene, Anne-Marie, Rigal, Odile, de Lonlay, Pascale, Valayannopoulos, Vassili, Gaudelus, Joel, Sellier, Nicolas, Bonnefont, J. P., Brivet, Michèle, de Pontual, Loic

“…Inherited metabolic disorders are the cause of a small but significant number of sudden infant deaths in infants. We report on a boy who suddenly died at…”
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Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development by Bouchet, C, Steffann, J, Corcos, J, Monnot, S, Paquis, V, Rötig, A, Lebon, S, Levy, P, Royer, G, Giurgea, I, Gigarel, N, Benachi, A, Dumez, Y, Munnich, A, Bonnefont, J P

“…Introduction: Myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) syndrome, a maternally inherited disorder that is among the most common…”
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Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report by Malan, Valérie, Gesny, R., Morichon-Delvallez, N., Aubry, M.C., Benachi, A., Sanlaville, D., Turleau, C., Bonnefont, J.P., Fekete-Nihoul, C., Vekemans, M.

“…The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous…”
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Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells by Béroud, C, Karliova, M, Bonnefont, JP, Benachi, A, Munnich, A, Dumez, Y, Lacour, B, Paterlini-Bréchot, P

“…Spinal muscular atrophy (SMA) has a prevalence of one in 6000 births and a one in 40 heterozygote frequency. We aimed to develop a routine test for…”
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Clinical presentation of mitochondrial disorders in childhood by Munnich, A., Rötig, A., Chretien, D., Cormier, V., Bourgeron, T., Bonnefont, J. ‐P., Saudubray, J. ‐M., Rustin, P.

“…Summary Respiratory‐chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP)…”
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Pearson's marrow-pancreas syndrome : a multisystem mitochondrial disorder in infancy by RÖTIG, A, CORMIER, V, MUNNICH, A, BLANCHE, S, BONNEFONT, J.-P, LEDEIST, F, ROMERO, N, SCHMITZ, J, RUSTIN, P, FISCHER, A, SAUDUBRAY, J.-M

“…Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas,…”
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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy by de Lonlay, P, Fournet, J C, Rahier, J, Gross-Morand, M S, Poggi-Travert, F, Foussier, V, Bonnefont, J P, Brusset, M C, Brunelle, F, Robert, J J, Nihoul-Fékété, C, Saudubray, J M, Junien, C

“…Sporadic persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or nesidioblastosis is a heterogeneous disorder characterized by profound hypoglycemia due…”
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