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The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Journal of medical genetics, 2006-05, Vol.43 (5), p.406-413

2006

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nature genetics, 1995-07, Vol.10 (3), p.330-336

1995

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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

2004

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The diagnosis of skeletal dysplasias: a multidisciplinary approach

European journal of radiology, 2001-12, Vol.40 (3), p.161-167

Mortier, Geert R

2001

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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

American journal of human genetics, 1998-02, Vol.62 (2), p.311-319

1998

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Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Journal of oral pathology & medicine, 2005-08, Vol.34 (7), p.444-446

2005

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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Journal of medical genetics, 2000-04, Vol.37 (4), p.263-271

2000

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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Nature genetics, 2001-08, Vol.28 (4), p.393-396

2001

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Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Human molecular genetics, 2002-04, Vol.11 (7), p.853-860

2002

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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Journal of medical genetics, 2003-03, Vol.40 (3), p.201-207

2003

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Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome

American journal of neuroradiology : AJNR, 2000-08, Vol.21 (7), p.1334-1336

2000

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Nosology of genetic skeletal disorders: 2023 revision

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1164-1209

2023

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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

American journal of medical genetics. Part A, 2004-03, Vol.125A (3), p.278-284

2004

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Beckwith-Wiedemann Syndrome: An Update and Review for the Primary Pediatrician

Clinical pediatrics, 1995-06, Vol.34 (6), p.317-326

1995

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Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Pediatric radiology, 1998-10, Vol.28 (10), p.790-793

1998

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Nosology of genetic skeletal disorders: 2023 revision

Yearbook of Paediatric Endocrinology, 2023-09

2023

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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

European journal of human genetics : EJHG, 2010-08, Vol.18 (8), p.872-880

2010

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Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

European journal of human genetics : EJHG, 2001-08, Vol.9 (8), p.606-612

2001

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Nature genetics, 2004-11, Vol.36 (11), p.1213-1218

2004

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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing

Genetics in medicine, 1999-09, Vol.1 (6), p.248-253

1999

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Imaging studies in the diagnostic workup of neonatal nasal obstruction

Journal of computer assisted tomography, 2001-07, Vol.25 (4), p.540-549

2001

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The scapula as a window to the diagnosis of skeletal dysplasias

Pediatric radiology, 1997-05, Vol.27 (5), p.447-451

1997

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A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

Human molecular genetics, 1995-02, Vol.4 (2), p.285-288

1995

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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

American journal of human genetics, 2003-04, Vol.72 (4), p.1040-1046

2003

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The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

The diagnosis of skeletal dysplasias: a multidisciplinary approach

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome

Nosology of genetic skeletal disorders: 2023 revision

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

Beckwith-Wiedemann Syndrome: An Update and Review for the Primary Pediatrician

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Nosology of genetic skeletal disorders: 2023 revision

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing

Imaging studies in the diagnostic workup of neonatal nasal obstruction

The scapula as a window to the diagnosis of skeletal dysplasias

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

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