Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov [PDF]
, 2016 Background Clinical trials are typically designed using the classical frequentist framework to constrain type I and II error rates. Sample sizes required in such designs typically range from hundreds to thousands of patients which can be challenging for
Day, Simon +8 more
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Ectodermal dysplasia in identical twins
Journal of Pharmacy and Bioallied Sciences, 2013 Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands.
Gurkar Haraswarupa Puttaraju +1 more
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Dental implants in patients with oral mucosal alterations : an update [PDF]
, 2011 Objective: To determine whether a series of diseases of the oral mucosa - Sjögren syndrome, ectodermal dysplasia, epidermolysis bullosa and lichen planus - reduce the survival rate of dental implants. Material and Method: A Medline search was carried out
Ata-Ali Mahmud, Francisco Javier +4 more
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TYPE AND COUNTER-TYPE FROM SPECIFIC CHROMOSOMAL REGIONS [PDF]
, 2013 Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the ...
Antona,V +6 more
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Дентальні маркери дерматологічних захворювань [PDF]
, 2010 Кожные болезни могут быть связаны с широким разнообразием стоматологических проявлений, которые должны быть знакомы и дерматологам, и стоматологам. Стоматологические проявления связаны с широким спектром заболеваний кожи, которые включают генетические ...
Галникіна, С.О. +1 more
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Hypohidrotic Ectodermal Dysplasia: Prosthetic Rehabilitation of a Rare Pediatric Case
Journal of Primary Care Dentistry and Oral HealthProsthetic management of hypohidrotic ectodermal dysplasia can be considered an early intervention for an affected child, not only to optimize esthetics and the functioning of the stomatognathic system but also to improve general nutrition and health ...
Monalisa Das, Mrinmay Aulia
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Molecular aspects of hypohidrotic ectodermal dysplasia [PDF]
American Journal of Medical Genetics Part A, 2009 AbstractHypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway,
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Early Prosthodontic Intervention For Hed-Associated Congenital Anodontia
International Dental JournalIntroduction: This report details the diagnostic and therapeutic management of a male infant with hypohidrotic ectodermal dysplasia (HED)-induced congenital anodontia.
Yucong Zhang, Dan He, Guhui Huang
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Despite the hair failing, nails thrive…
Indian Journal of Paediatric Dermatology, 2017 Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee +1 more
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Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]
, 2013 Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
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