• A "modified Obel" method for the severity scoring of (endocrinopathic) equine laminitis
• A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome
• A case of ruptured cerebral aneurysm associated with fenestrated vertebral artery in osteogenesis imperfecta
• A common presentation of a rare genetic disorder clinically mimicking primary myopathy
• A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
• A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus
• A new type of achondrogenesis
• A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
• A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal
• A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family
• 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
• Abnormalities of the spine in Goldenhar's syndrome
• Advances in osteogenesis imperfecta
• alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients
• Atelosteogenesis syndromes: a review, with comments on their pathogenesis
• Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28
• Breathing abnormalities in sleep in achondroplasia
• Carbohydrate pellets to assess insulin dysregulation in horses
• Cardiofaciocutaneous syndrome
• Collagen genes and proteins in osteogenesis imperfecta
• Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome
• Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI
• Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant
• Congenital macular colobomas and short-limb skeletal dysplasia
• Congenital synspondylism
• CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
• Dappled diaphyseal dysplasias
• Demographic, morphologic, hormonal and metabolic factors associated with the rate of improvement from equine hyperinsulinaemia-associated laminitis
• Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis
• Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family
• Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
• Diverse requirements for Notch signalling in mammals
• Dyssegmental dysplasia (report of two cases with a review of the literature)
• Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele
• Equine glucagon-like peptide-1 receptor physiology
• Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
• Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III
• Fast food and fat fillies: the ills of western civilisation
• Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
• Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
• Gene localization for an autosomal dominant familial periodic fever to 12p13
• Genetic heterogeneity in osteogenesis imperfecta
• Glucagon-like peptide-1, insulin-like growth factor-1, and adiponectin in insulin-dysregulated ponies: effects of feeding a high nonstructural carbohydrate diet and association with prospective laminitis
• Glucagon-like peptide-2: A potential role in equine insulin dysregulation
• Glucose transport in the equine hoof
• Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects
• Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics
• Hyperinsulinemia Down-Regulates TLR4 Expression in the Mammalian Heart
• Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis
• IMPAD1 mutations in two Catel-Manzke like patients
• Incidence and risk factors for recurrence of endocrinopathic laminitis in horses
• Insulin and incretin responses to grazing in insulin-dysregulated and healthy ponies
• Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases
• Lethal osteogenesis imperfecta in a Congolese newborn infant
• Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome
• Metabolic profile distinguishes laminitis-susceptible and -resistant ponies before and after feeding a high sugar diet
• Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature
• Morphologic studies in the skeletal dysplasias
• Mutations in PYCR1 cause cutis laxa with progeroid features
• Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
• Non-Invasive Screening Tools for Down's Syndrome: A Review
• Non-Majewski short rib-polydactyly syndrome
• Nosology and classification of genetic skeletal disorders: 2019 revision
• Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization
• Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature
• Osteogenesis imperfecta and dentinogenesis imperfecta. Apropos of 4 cases
• Osteogenesis imperfecta: an expanding panorama of variants
• Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment
• Osteogenesis imperfecta: fibronectin in dentin matrix
• Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea
• Pathogenic variants in <em>PLOD3</em> result in a Stickler syndrome-like connective tissue disorder with vascular complications
• Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes
• Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
• Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive <em>P3H1</em> Pathogenic Variant
• Phenotypic, hormonal, and clinical characteristics of equine endocrinopathic laminitis
• Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
• Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
• Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
• Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome?
• Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale)
• Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia
• Spondylometepiphyseal dysplasia, Strudwick type
• Sustained, Low-Intensity Exercise Achieved by a Dynamic Feeding System Decreases Body Fat in Ponies
• The application of a new laminitis scoring method to model the rate and pattern of improvement from equine endocrinopathic laminitis in a clinical setting
• The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen
• The cresty neck score is an independent predictor of insulin dysregulation in ponies
• The differential diagnosis of children with joint hypermobility: a review of the literature
• The effect of diet change and insulin dysregulation on the faecal microbiome of ponies
• The effect of different grazing conditions on the insulin and incretin response to the oral glucose test in ponies
• The efficacy and safety of velagliflozin over 16 weeks as a treatment for insulin dysregulation in ponies
• The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)
• The natural history and osteodystrophy of mucolipidosis types II and III
• The oral glucose test predicts laminitis risk in ponies fed a diet high in nonstructural carbohydrates
• The repeatability of an oral glucose test in ponies
• The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome
• Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase
• Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
• Variability in kyphomelic dysplasia
• X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
• ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components