Search Results - "Fete, Mary"
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Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues
Published in International journal of pediatric otorhinolaryngology (01-08-2024)“…Previous studies have also associated cleft palate with increased cholesteatoma risk. Despite this close relation, the incidence of cholesteatoma and…”
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Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
Published in American journal of medical genetics. Part A (01-03-2019)“…An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the…”
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Growth failure in focal dermal hypoplasia
Published in American journal of medical genetics. Part A (01-04-2019)“…Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted…”
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Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes
Published in Annals of allergy, asthma, & immunology (01-06-2012)“…Abstract Background Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and…”
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2008 International Conference on Ectodermal Dysplasias Classification: Conference report
Published in American journal of medical genetics. Part A (01-09-2009)“…There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis,…”
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In memoriam-A salute to Dr. Carlos F. Salinas and Dr. Robert Goltz
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-03-2016)Get full text
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Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia
Published in TheScientificWorld (01-01-2012)“…Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition…”
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Prevalence rates for ectodermal dysplasia syndromes
Published in American journal of medical genetics. Part A (01-12-2024)“…Background Ectodermal dysplasias (EDs) are a heterogeneous group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal…”
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International research symposium on Goltz syndrome
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-03-2016)“…The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and…”
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X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry
Published in American journal of medical genetics. Part A (01-10-2014)“…The web‐based Ectodermal Dysplasia International Registry (EDIR) is a comprehensive patient‐reported survey contributing to an understanding of ectodermal…”
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Rare diseases of ectoderm: Translating discovery to therapy
Published in American journal of medical genetics. Part A (01-03-2023)“…Heritable conditions known as ectodermal dysplasias are rare and can be associated with marked morbidity, mortality, and a reduced quality of life. The…”
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Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update
Published in Genes (10-12-2022)“…To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the…”
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Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-03-2016)“…Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X‐chromosome. In the present study, we…”
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Modeling AEC-New approaches to study rare genetic disorders
Published in American journal of medical genetics. Part A (01-10-2014)“…Ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in…”
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Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
Published in American journal of medical genetics. Part A (01-07-2013)“…Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several…”
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Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model
Published in American journal of medical genetics. Part A (01-10-2014)“…Ectodermal dysplasias (EDs) comprise a large clinically and etiologically heterogeneous group of genetic disorders characterized by abnormalities in tissues…”
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Perceptions of outcomes of implant therapy in patients with ectodermal dysplasia syndromes
Published in The International journal of prosthodontics (01-05-2008)“…The purpose of this study was to evaluate patient-specific outcomes and satisfaction using dental implants in a population affected with ectodermal dysplasia…”
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Letter to the Editor
Published in Clinical nursing research (01-05-2002)Get full text
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Letter to the Editor
Published in Clinical nursing research (01-05-2002)Get full text
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Letter to the editor
Published in Clinical nursing research (01-05-2002)Get full text
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