L. Bonafé

Discipline

Psychologie (5) Anthropologie biologique (3) Sciences de l'information et de la communication (1) Géographie (1)

Type de document

Articles (29) Recensions (6) Colloques et conférences (1)

Co-auteur

Date

Source

Mot-clé

Patients (16) Patients (16) gène (13) protéine (9) mutation (9) Treatment (9) Human beings (9) Families (9) Mutation (9) maladie (9) maladie (8) Bone (8) roman (8) modèle (7) analyse (7) famille (7) Dysplasia (7) Management (7) Example (7) Analysis (7) Family (7) tissu (corporel) (6) gestion (6) Phenotype (6) Animals (6) Management (6) métabolisme (5) ADN (5) Diagnosis (5) Development (5)

Documents écrit par L. Bonafé (29) | parle de L. Bonafé (0)

Identification of potential non-invasive biomarkers in diastrophic dysplasia.
C. Paganini et al.
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.
B. Aubry-Rozier et al. (28 juin 2020)
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.
M. Capurro et al. (4 sept. 2017)
Current Care and Investigational Therapies in Achondroplasia.
S. Unger et al.
Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
A. Bregou Bourgeois et al. (2016)
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.
K. Pichler et al. (2016)
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
B. Royer-Bertrand et al. (2015)
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
U. Lindert et al. (2015)
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects
R. Ferriero et al. (2014)
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.
P. Jafari et al. (2013)
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.
P. Jafari et al. (2013)
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
P Jafari et al. (2013)
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
G.C. Jackson et al. (2012)
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
B.P. Kelley et al. (2011)
The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.
P. Jafari et al. (2011)
Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant
D. Ballhausen et al. (2011)
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
M.E. Bowen et al. (2011)
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
J. Deuquet et al. (2011)
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
P. Smits et al. (21 janv. 2010)
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
D. Ballhausen et al. (2010)
Swiss Group for Inborn Errors of Metabolism (SGIEM): Recommendations about the use of tetrahydrobiopterin (BH4) in phenylketonuric (PKU) patients in Switzerland
D. Ballhausen et al. (2010)
Management and outcome of classical phenylketonuria in a preterm infant
D. Ballhausen et al. (2010)
Early neurological impairment and severe anemia in a newborn with Pearson syndrome
A. S. Morel et al. (2009)
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
T. Fukada et al. (2008)
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
L. Bonafé et al. (2008)

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