Disease: Sillence syndrome
- 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