List of works - Luisa Bonafé

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

scientific article (publication date: 15 October 2003)

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

scientific article

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

scientific article

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

scientific article published in August 2008

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

scientific journal article

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

scientific article published on June 2008

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

scientific article published in May 2017

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

scientific journal article

Current Care and Investigational Therapies in Achondroplasia

scientific article published on 21 February 2017

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

scientific article

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

scientific article

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

scientific article published on 16 May 2013

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

scientific article published on 9 January 2011

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

scientific article published on 16 August 2013

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

scientific journal article

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

scientific article

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

scientific article published on March 2008

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

scientific article published on 9 May 2013

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

scientific article

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

scientific article published on 28 May 2009

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

scientific article published on 21 March 2015

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

scientific article published on 23 May 2016

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

scientific article published on 19 August 2015

New topics in the skeletal dysplasias

scientific article published on 12 July 2012

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

scientific article published on 01 June 2020

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

scientific article published on 11 June 2010

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

scientific article published on 01 October 2010

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

scientific article

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

scientific article published in 2010

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder

scientific article published in March 2006

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

scientific article

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

scientific article published on 12 July 2012

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

scientific article

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

scientific article

[New therapies for children affected by bone diseases]

scientific article published on 22 February 2012

List of works by Luisa Bonafé

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

Current Care and Investigational Therapies in Achondroplasia

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

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

New topics in the skeletal dysplasias

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

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

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

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

[New therapies for children affected by bone diseases]