• A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes
• A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance
• A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
• An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
• Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature
• Autoimmune Polyglandular Syndromes
• Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus
• Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy
• Calcitriol dosage in osteomalacia, hypoparathyroidism and attempted treatment of myositis ossificans progressiva
• Cellular immunology in a historical perspective
• Congenital hypophosphataemia in adults: determinants of bone turnover markers and amelioration of renal phosphate wasting following total parathyroidectomy
• Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn
• Developments in rare bone diseases and mineral disorders
• Diagnosed in the allergy and immunology clinic
• Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review
• Emerging role of a phosphatonin in mineral homeostasis and its derangements
• Endocrine manifestations related to inherited metabolic diseases in adults
• Evaluation and management of B and T cell abnormalities
• Fabry's disease and hypoparathyroidism
• Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR)
• FGF-23 is elevated by chronic hyperphosphatemia
• Gene mapping of mineral metabolic disorders
• HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
• Hungry bone syndrome and normalisation of renal phosphorus threshold after total parathyroidectomy for tertiary hyperparathyroidism in X-linked hypophosphataemia: a case report
• Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients
• Hypoparathyroidism and Pseudohypoparathyroidism
• Idiopathic hypoparathyroidism (isolated)
• Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred
• Imaging diagnostics for primary hyperparathyroidism
• Immunodeficiency and syndromes: a nosographic approach
• Introduction to genetics for otorhinolaryngology nurses
• Juvenile parkinsonism: Differential diagnosis, genetics, and treatment
• Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27
• Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism
• Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
• Molecular genetic approaches to the study of human craniofacial dysmorphologies
• Molecular genetics of mineral metabolic disorders
• mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation
• Paediatric Metabolic Bone Disease: A Lifetime Ahead
• Parathyroid hormone sensitivity in familial X-linked hypophosphatemic rickets
• Primary immunodeficiencies in adults
• Primary T-cell immunodeficiencies
• Proceedings of the 2023 Santa Fe Bone Symposium: Progress and Controversies in the Management of Patients with Skeletal Diseases
• Pulmonary complications of primary immunodeficiencies
• Rare diseases of phosphate and calcium metabolism: Crossing glances between nephrology and endocrinology
• Renal Phosphate Handling: Independent Effects of Circulating FGF23, PTH, and Calcium
• Rickets, Vitamin D, and Ca/P Metabolism
• Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
• T-cell subsets analyzed by monoclonal antibodies in patients with primary immunodeficiency diseases
• The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
• The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets
• The etiology of enamel hypoplasia: a unifying concept
• Thyroid autoimmunity and polyglandular endocrine syndromes
• Transcription map of Xq27: candidates for several X-linked diseases
• Type 1 diabetes and autoimmune polyendocrine syndromes
• Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
• X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase
• YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter