• <em>Amelogenesis imperfecta</em>: Next-generation sequencing sheds light on Witkop's classification
• A nonsense mutation in MSX1 causes Witkop syndrome
• A rare case of tooth-nail syndrome
• ACOG Committee Opinion No. 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer
• Albinism
• Albinism and Hermansky-Pudlak syndrome in Puerto Rico
• Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20)
• Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism
• An improved method for the extraction of endogenous platelet serotonin
• Autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome
• Basal cell nevus syndrome. Combined clinical staff conference at the National Institutes of Health
• Classification of albinism in man
• Clinical aspects of dental anomalies
• Clinical, genetic, and histologic features of the trichoonychodental (TOD) syndrome
• Clinical, histologic, cytologic, and ultrastructural characteristics of the oral lesions from hereditary mucoepithelial dysplasia. A disease of gap junction and desmosome formation
• Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management
• Depigmentations of the general and oral tissues and their genetic foundations
• Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets
• Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome)
• Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction
• Features of oligodontia in three generations
• Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita
• Gardner's syndrome and other osteognathodermal disorders with defects in parathyroid functions
• Globodontia in the otodental syndrome
• Globodontia--a new familial tooth abnormality
• Hereditary benign intra-epithelial dyskeratosis (Witkop--Von Sallman syndrome)
• Hereditary defects of dentin
• Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome
• Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation
• Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review
• Hereditary mucoepithelial dysplasia. Case report and review of the literature
• Hermansky-Pudlak syndrome (HPS): a proposed block in glutathione peroxidase
• Hermansky-Pudlak syndrome (HPS). An epidemiologic study
• Hermansky-Pudlak syndrome in a Swiss population
• Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases
• Hermansky-Pudlak syndrome. Ophthalmic findings
• Heterogeneity in gingival fibromatosis
• Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review
• Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes
• Inherited disorders of pigmentation
• Knowledge and attitudes survey in bleeding disorders providers regarding pain
• Labile aggregation stimulating substance (LASS): the factor from storage pool deficient platelets correcting defective aggregation and release of aspirin treated normal platelets
• Malformation syndromes. A selected miscellany
• MSX1 mutation in witkop syndrome; a case report
• Mucocutaneous dyskeratosis with periodontal destruction and premature tooth loss
• Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper
• Odontodysplasia. Report of three cases with vascular nevi overlying the adjacent skin of the face
• Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome
• Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome
• Platelet aggregation independent of ADP release or prostaglandin synthesis in patients with hermansky-Pudlak syndrome
• Prepubertal diagnosis of Klinefelter syndrome in a patient with taurodontic teeth
• Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA)
• Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency
• Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
• Resistance to parathyroid extract in Gardner's syndrome
• Severely hypoplastic amelogenesis imperfecta with taurodontism
• Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions
• Studies of platelets in a variant of the Hermansky-Pudlak syndrome
• Surgical and prosthetic rehabilitation of siblings with Witkop tooth and nail syndrome using zygomatic implants: a familial case series of 3 patients with up to 15-year follow-up
• Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism
• Syndromes affecting skin and mucosa
• Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndrome
• Taurodontism, an isolated trait associated with syndromes and X-chromosomal aneuploidy
• Taurodontism: an anomaly of teeth reflecting disruptive developmental homeostasis
• The Hermansky-Pudlak syndrome: inclusions in circulating leucocytes
• The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages
• The Hermansky-Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes
• The role of ceroid in lung and gastrointestinal disease in Hermansky-Pudlak syndrome
• The Saethre-Chotzen syndrome
• Thioredoxin reductase activity in Hermansky-Pudlak syndrome: a method for identification of putative heterozygotes
• Understanding the spectrum of the female athlete triad
• Use of metformin in polycystic ovary syndrome: a meta-analysis
• What syndrome is this? Witkop tooth and nail syndrome
• Witkop syndrome: A case report of an affected family
• Witkop tooth and nail syndrome and orthodontics
• Witkop tooth and nail syndrome: a case report
• Witkop tooth and nail syndrome: a report of three cases in a family
• Witkop tooth and nail syndrome: report of two cases in a family
• Witkop's syndrome: A case report
• Witkop's tooth and nail syndrome: a multifaceted approach to dental management