Luisa Bonafe

Summary

Affiliation: Centre Hospitalier Universitaire Vaudois
Country: Switzerland

Publications

  1. pmc Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
    Paris Jafari
    Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, 1011 Lausanne, Switzerland
    Orphanet J Rare Dis 8:4. 2013
  2. pmc Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report
    Timo Hinrichs
    Department of Sports Medicine and Sports Nutrition, University of Bochum, Bochum, Germany
    BMC Musculoskelet Disord 11:110. 2010
  3. pmc Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
    Luisa Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    PLoS Genet 1:e47. 2005
  4. ncbi request reprint Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
    Raffaele Renella
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:541-50. 2006
  5. doi request reprint Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation
    Pelin Ozlem Simsek-Kiper
    Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 164:2667-71. 2014
  6. doi request reprint Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
    Esra Dikoglu
    Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 161:3161-5. 2013
  7. doi request reprint Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
    Diana Ballhausen
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02 35, Av P Decker 2, 1011 Lausanne, Switzerland
    J Inherit Metab Dis 33:S219-26. 2010
  8. ncbi request reprint Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, Lausanne, Switzerland
    Am J Med Genet A 133:61-7. 2005
  9. doi request reprint Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
    Claudine Rieubland
    Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Eur J Med Genet 53:294-8. 2010
  10. ncbi request reprint Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
    Russia Ha-Vinh
    Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:115-20. 2004

Collaborators

Detail Information

Publications27

  1. pmc Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
    Paris Jafari
    Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, 1011 Lausanne, Switzerland
    Orphanet J Rare Dis 8:4. 2013
    ..Early diagnosis and current treatment strategies aimed at limiting the production of these metabolites are only partially effective in preventing neurological damage...
  2. pmc Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report
    Timo Hinrichs
    Department of Sports Medicine and Sports Nutrition, University of Bochum, Bochum, Germany
    BMC Musculoskelet Disord 11:110. 2010
    ..Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms...
  3. pmc Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
    Luisa Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    PLoS Genet 1:e47. 2005
    ..Thus, RMRP molecular testing may be indicated in individuals with isolated metaphyseal dysplasia, anemia, or immune dysregulation...
  4. ncbi request reprint Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
    Raffaele Renella
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:541-50. 2006
    ..The notion of recessive inheritance hitherto assumed is challenged by the observation of two apparently dominant pedigrees...
  5. doi request reprint Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation
    Pelin Ozlem Simsek-Kiper
    Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 164:2667-71. 2014
    ..No obvious side effects were observed. We cautiously conclude that TGFβ1 inhibition with losartan deserves further evaluation in the clinical management of Camurati-Engelmann disease...
  6. doi request reprint Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
    Esra Dikoglu
    Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 161:3161-5. 2013
    ..841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15...
  7. doi request reprint Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
    Diana Ballhausen
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02 35, Av P Decker 2, 1011 Lausanne, Switzerland
    J Inherit Metab Dis 33:S219-26. 2010
    ..A threshold of more than 45% heteroplasmy in muscle seems to be necessary to alter complex I activity leading to clinical manifestation. The presented data may be helpful for prognostic considerations and counseling in affected families...
  8. ncbi request reprint Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, Lausanne, Switzerland
    Am J Med Genet A 133:61-7. 2005
    ....
  9. doi request reprint Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
    Claudine Rieubland
    Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Eur J Med Genet 53:294-8. 2010
    ..After termination of pregnancy, radiographs showed short ribs, short and bent long bones and anisospondyly of two vertebral bodies. The fetus was homozygous for a previously undescribed null mutation in HSPG2...
  10. ncbi request reprint Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
    Russia Ha-Vinh
    Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:115-20. 2004
    ..Collagen degradation products in urine and mutation analysis of PLOD2 may be used to diagnose BS and differentiate it from OI...
  11. pmc Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
    Andreas Zankl
    Division of Molecular Paediatrics, Lausanne, Switzerland
    Eur J Hum Genet 15:150-4. 2007
    ..We conclude that expert clinical-radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias...
  12. ncbi request reprint [Array CGH: why and to whom]
    Alessandra Ferrarini
    Service de génétique médicale et Département médico chirurgical de pédiatrie, CHUV, 1011 Lausanne
    Rev Med Suisse 6:390-2, 394-6. 2010
    ..Examples of our practice will be presented...
  13. doi request reprint Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
    Luisa Bonafe
    Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland
    Arthritis Rheumatol 68:2323-7. 2016
    ..To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis...
  14. doi request reprint MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
    Luisa Bonafe
    Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland
    Am J Med Genet A 164:1175-9. 2014
    ..g., metaphyseal dysplasia, Schmid type; OMIM # 156500) and from more severe multi-system conditions (such as cartilage-hair hypoplasia; OMIM # 250250) and to give precise recurrence risks and prognosis...
  15. ncbi request reprint Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1
    Andreas Zankl
    Department of Pediatrics, Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 129:144-8. 2004
    ..The diagnosis of SPD is suggested by the appearance of brachydactyly in a child who has clinical and radiographic features of a collagen II disorder...
  16. ncbi request reprint Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:299-300. 2004
    ..To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2...
  17. ncbi request reprint Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
    Andreas Zankl
    CHUV, Lausanne, Switzerland
    J Bone Miner Res 22:329-33. 2007
    ..MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. Our findings suggest that Torg, NAO, and Winchester syndrome are allelic disorders...
  18. doi request reprint Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy
    Eliane Roulet-Perez
    Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Epilepsia 49:1955-8. 2008
    ..Seizure control and neuropsychological improvements were obtained with a ketogenic diet...
  19. doi request reprint Early neurological impairment and severe anemia in a newborn with Pearson syndrome
    Anne Sophie Morel
    Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland
    Eur J Pediatr 168:311-5. 2009
    ..PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course...
  20. doi request reprint NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina
    Nuria Garcia Segarra
    Center for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland
    Am J Med Genet A 167:2902-12. 2015
    ..Early recognition of the skeletal phenotype is important for preventive management of cervical instability...
  21. doi request reprint Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
    Nuria Garcia Segarra
    Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland Electronic address
    J Neurol Sci 342:69-78. 2014
    ..These findings provide further evidence of this molecular mechanism as causative of FHM1 and expand the phenotypic spectrum of CACNA1A mutations with a child exhibiting severe SHM1 and non-episodic ataxia of congenital onset...
  22. doi request reprint The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
    Nuria Garcia Segarra
    Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland
    Am J Med Genet C Semin Med Genet 160:217-29. 2012
    ..Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis...
  23. pmc Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I
    Paris Jafari
    Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland
    PLoS ONE 8:e53735. 2013
    ..They suggest that intracerebral ammonium accumulation might be an important target for the development of more effective treatment strategies to prevent brain damage in patients with glutaric aciduria type I...
  24. doi request reprint Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria
    Marine Jequier Gygax
    Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Eur J Pediatr 168:957-62. 2009
    ..Sudden death has not been reported in association with L-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be important...
  25. pmc Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia
    Ana Belinda Campos-Xavier
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Hum Genet 84:760-70. 2009
    ..Thus, GPC6 seems to have a previously unsuspected role in endochondral ossification and skeletal growth, and its functional abrogation results in a short-limb phenotype...
  26. pmc Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
    Beryl Royer-Bertrand
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Sci Rep 5:17154. 2015
    ....
  27. pmc Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors
    Julie Deuquet
    Ecole Polytechnique Federale de Lausanne, Global Health Institute, Lausanne, Switzerland
    EMBO Mol Med 3:208-21. 2011
    ....