Lista de obras -

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

artículo científico publicado en 2012

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

artículo científico publicado en 2015

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

artículo científico publicado en 2016

A syndactyly type IV locus maps to 7q36.

artículo científico publicado en 2007

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

artículo científico publicado en 2016

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

scientific journal article

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

artículo científico publicado en 2021

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

artículo científico publicado en 2012

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

artículo científico publicado en 2013

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

artículo científico publicado en 2006

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development

artículo científico publicado en 2007

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

artículo científico publicado en 2006

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

artículo científico publicado en 2014

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

scientific journal article

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

artículo científico publicado en 2004

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

artículo científico publicado en 2004

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

scientific journal article

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

artículo científico publicado en 2014

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

artículo científico publicado en 2012

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features

artículo científico publicado en 2002

TRPV4-associated skeletal dysplasias

artículo científico publicado en 2012

TRPV4-pathy, a novel channelopathy affecting diverse systems

artículo científico publicado en 2010

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

artículo científico publicado en 2007

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

artículo científico publicado en 2020

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

artículo científico publicado en 2011

Lista de obras de

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

A syndactyly type IV locus maps to 7q36.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

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

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

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

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

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

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

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

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features

TRPV4-associated skeletal dysplasias

TRPV4-pathy, a novel channelopathy affecting diverse systems

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type