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XYLT1 Mutations in Desbuquois Dysplasia Type 2

American journal of human genetics, 2014-03, Vol.94 (3), p.405-414

2014

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Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

Journal of bone and mineral research, 2020-08, Vol.35 (8), p.1470-1480

2020

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Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

Matrix biology, 2019-08, Vol.81, p.70-90

2019

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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

American journal of human genetics, 2009-05, Vol.84 (5), p.706-711

2009

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Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment

Journal of bone and mineral research, 2024-04, Vol.39 (3), p.287-297

2024

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Nature communications, 2018-08, Vol.9 (1), p.3087-15, Article 3087

2018

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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

Human molecular genetics, 2019-08, Vol.28 (16), p.2720-2737

2019

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Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1349-1359

2020

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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.3711-3722

2022

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The 3M syndrome

Baillière's best practice & research. Clinical endocrinology & metabolism, 2011-02, Vol.25 (1), p.143-151

2011

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Mutations in IFT80 cause SRPS Type IV. Report of two families and review

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.639-644

2019

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Bone (New York, N.Y.), 2020-04, Vol.133, p.115219-115219, Article 115219

2020

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Serum bikunin is a biomarker of linkeropathies

Clinica chimica acta, 2018-10, Vol.485, p.178-180

2018

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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

American journal of human genetics, 2013-11, Vol.93 (5), p.926-931

2013

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ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

American journal of human genetics, 2004-11, Vol.75 (5), p.801-806

2004

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Identification of CANT1 Mutations in Desbuquois Dysplasia

American journal of human genetics, 2009-11, Vol.85 (5), p.706-710

2009

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Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Human mutation, 2015-02, Vol.36 (2), p.187-190

2015

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A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy

European journal of medical genetics, 2020-04, Vol.63 (4), p.103823-103823, Article 103823

2020

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Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

BONE REPORTS, 2021-12, Vol.15, p.101121, Article 101121

2021

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Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions

European journal of medical genetics, 2020-02, Vol.63 (2), p.103729-103729, Article 103729

2020

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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

American journal of human genetics, 2013-01, Vol.92 (1), p.144-149

2013

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Ciliary disorder of the skeleton

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.165-174

2012

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XYLT1 Mutations in Desbuquois Dysplasia Type 2

Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

The 3M syndrome

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Serum bikunin is a biomarker of linkeropathies

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Identification of CANT1 Mutations in Desbuquois Dysplasia

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Ciliary disorder of the skeleton

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