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Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1470-1481

2014

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Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.184-192

2007

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Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age

Hormone research in paediatrics, 2013-07, Vol.79 (6), p.333-340

2013

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Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation

Pediatric radiology, 1994-11, Vol.24 (6), p.427-430

SILLENCE, D. O

1994

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A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia

The Journal of clinical investigation, 1998-04, Vol.101 (7), p.1490-1499

1998

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Cyclic bisphosphonate therapy in osteogenesis imperfecta type V

Journal of paediatrics and child health, 2005-03, Vol.41 (3), p.147-151

2005

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A Novel Germ Line Mutation in SOX9 Causes Familial Campomelic Dysplasia and Sex Reversal

Human molecular genetics, 1996-10, Vol.5 (10), p.1625-1630

1996

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X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

Journal of medical genetics, 1995-05, Vol.32 (5), p.383-388

1995

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Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata

Journal of medical genetics, 1998-12, Vol.35 (12), p.1004-1008

1998

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Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

JIMD Reports - Case and Research Reports, 2012/3, 2012-01, Vol.6, p.101-105

2012

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A common presentation of a rare genetic disorder clinically mimicking primary myopathy

Adolescent medicine (Elk Grove Village, Ill.), 2012-08, Vol.23 (2), p.393

2012

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Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family

Journal of paediatrics and child health, 2003-12, Vol.39 (9), p.707-712

2003

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Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

The Lancet (British edition), 2013-10, Vol.382 (9902), p.1424-1432

2013

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Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function

The Journal of cell biology, 1997-01, Vol.136 (2), p.459-471

1997

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Genetic heterogeneity in osteogenesis imperfecta

Journal of medical genetics, 1979-04, Vol.16 (2), p.101-116

1979

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Cognitive and Psychological Functioning in Fabry Disease

Archives of clinical neuropsychology, 2014-11, Vol.29 (7), p.642-650

2014

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Osteogenesis Imperfecta Nosology and Genetics

Annals of the New York Academy of Sciences, 1988-12, Vol.543 (1), p.1-16

SILLENCE, D. O.

1988

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Overnight growth hormone secretion in achondroplasia : Deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea

Pediatric research, 1996-03, Vol.39 (3), p.547-553

1996

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Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

The Journal of biological chemistry, 1995-04, Vol.270 (15), p.8642-8649

1995

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Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings

Clinical dysmorphology, 2000-07, Vol.9 (3), p.167-172

2000

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Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix

Biochemical journal, 1995-11, Vol.311 ( Pt 3) (3), p.939-943

1995

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Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

The Journal of biological chemistry, 2003-10, Vol.278 (42), p.40967-40972

2003

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An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

Pediatric dermatology, 1993-12, Vol.10 (4), p.344-351

1993

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Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele

Journal of medical genetics, 1991-12, Vol.28 (12), p.840-845

1991

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Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

American journal of medical genetics, 1986-03, Vol.23 (3), p.821-832

1986

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Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age

Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia

Cyclic bisphosphonate therapy in osteogenesis imperfecta type V

A Novel Germ Line Mutation in SOX9 Causes Familial Campomelic Dysplasia and Sex Reversal

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata

Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

A common presentation of a rare genetic disorder clinically mimicking primary myopathy

Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function

Genetic heterogeneity in osteogenesis imperfecta

Cognitive and Psychological Functioning in Fabry Disease

Osteogenesis Imperfecta Nosology and Genetics

Overnight growth hormone secretion in achondroplasia : Deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings

Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix

Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

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