Literature DB >> 19681152

2008 International Conference on Ectodermal Dysplasias Classification: conference report.

Carlos F Salinas1, Ronald J Jorgenson, J Timothy Wright, John J DiGiovanna, Mary D Fete.   

Abstract

There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that share one (monothetic system) or several (polythetic system) traits in order to focus research on a narrowly defined group. Special interest groups may want a list from which they can choose constituencies, and insurance companies and government agencies may want a list to determine for whom to provide (or deny) health-care coverage. Furthermore, various molecular biologists are now promoting classification systems based on gene mutation (e.g., TP63-associated syndromes) or common molecular pathways. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health-care providers, and ultimately the individuals and families directly affected by ectodermal dysplasias. It is also recognized that a new classification approach is an ongoing process and will require periodical reviews or updates. Whatever scheme is developed, however, will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for optimizing communication among the diverse groups whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts. (c) 2009 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2009        PMID: 19681152      PMCID: PMC2756677          DOI: 10.1002/ajmg.a.32882

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  15 in total

Review 1.  p63-associated disorders.

Authors:  Tuula Rinne; Hans G Brunner; Hans van Bokhoven
Journal:  Cell Cycle       Date:  2007-02-03       Impact factor: 4.534

2.  Human disease genes.

Authors:  G Jimenez-Sanchez; B Childs; D Valle
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

3.  Ectodermal dysplasias.

Authors:  N Freire-Maia
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

4.  Ectodermal dysplasias revisited.

Authors:  N Freire-Maia
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1977

5.  The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Authors:  K Pääkkönen; S Cambiaghi; G Novelli; L V Ouzts; M Penttinen; J Kere; A K Srivastava
Journal:  Hum Mutat       Date:  2001-04       Impact factor: 4.878

Review 6.  Ectodermal dysplasias: not only 'skin' deep.

Authors:  M Priolo; M Silengo; M Lerone; R Ravazzolo
Journal:  Clin Genet       Date:  2000-12       Impact factor: 4.438

7.  Ectodermal dysplasias: a new clinical-genetic classification.

Authors:  M Priolo; C Laganà
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

8.  Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

Authors:  Suzanne E Clements; Vesarat Wessagowit; Joey E Lai-Cheong; Ken Arita; John A McGrath
Journal:  J Dermatol Sci       Date:  2007-10-24       Impact factor: 4.563

9.  Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.

Authors:  Margret L Casal; John R Lewis; Elizabeth A Mauldin; Aubry Tardivel; Karine Ingold; Manuel Favre; Fabrice Paradies; Stephane Demotz; Olivier Gaide; Pascal Schneider
Journal:  Am J Hum Genet       Date:  2007-09-18       Impact factor: 11.025

10.  A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Authors:  Tuula Rinne; Suzanne E Clements; Evert Lamme; Pascal H G Duijf; Emine Bolat; Rowdy Meijer; Hans Scheffer; Elisabeth Rosser; Tiong Yang Tan; John A McGrath; Joost Schalkwijk; Han G Brunner; Huiqing Zhou; Hans van Bokhoven
Journal:  Hum Mol Genet       Date:  2008-03-25       Impact factor: 6.150

View more
  6 in total

Review 1.  Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Authors:  John Timothy Wright; Mary Fete; Holm Schneider; Madelaine Zinser; Maranke I Koster; Angus J Clarke; Smail Hadj-Rabia; Gianluca Tadini; Nina Pagnan; Atila F Visinoni; Birgitta Bergendal; Becky Abbott; Timothy Fete; Clark Stanford; Clayton Butcher; Rena N D'Souza; Virginia P Sybert; Maria I Morasso
Journal:  Am J Med Genet A       Date:  2019-01-31       Impact factor: 2.802

2.  Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Authors:  Francesco Brancati; Paola Fortugno; Irene Bottillo; Marc Lopez; Emmanuelle Josselin; Omar Boudghene-Stambouli; Emanuele Agolini; Laura Bernardini; Emanuele Bellacchio; Miriam Iannicelli; Alfredo Rossi; Amina Dib-Lachachi; Liborio Stuppia; Giandomenico Palka; Stefan Mundlos; Sigmar Stricker; Uwe Kornak; Giovanna Zambruno; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

3.  Phenotypic Features and Salivary Parameters in Patients with Ectodermal Dysplasia: Report of Three Cases.

Authors:  Mônica Fernandes Gomes; Luigi Giovanni Bernardo Sichi; Lilian Chrystiane Giannasi; José Benedito Oliveira Amorim; João Carlos da Rocha; Cristiane Yumi Koga-Ito; Miguel Angel Castillo Salgado
Journal:  Case Rep Dent       Date:  2018-03-20

4.  A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.

Authors:  Girish Gulab Meshram; Neeraj Kaur; Kanwaljeet Singh Hura
Journal:  J Family Med Prim Care       Date:  2018 Jan-Feb

5.  An ectodermal dysplasia patient treated with a small diameter implant supporting a single crown.

Authors:  Andrea Mascolo; Elio Boschetti; Dennis Flanagan
Journal:  Clin Cosmet Investig Dent       Date:  2018-08-10

6.  Hypohidrotic ectodermal dysplasia: A case report with review and latest updates.

Authors:  Shubhangi P Bagdey; Rohit B Moharil; Alka Dive; Ashish Bodhade
Journal:  J Oral Maxillofac Pathol       Date:  2022-02-28
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.