Literature DB >> 19127575

Elements of morphology: introduction.

Judith E Allanson1, Leslie G Biesecker, John C Carey, Raoul C M Hennekam.   

Abstract

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we describe the general background of the project and the various issues we have tried to take into account in defining the terms.

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Mesh:

Year:  2009        PMID: 19127575      PMCID: PMC2774524          DOI: 10.1002/ajmg.a.32601

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


  6 in total

1.  Elements of morphology: standard terminology for the head and face.

Authors:  Judith E Allanson; Christopher Cunniff; H Eugene Hoyme; Julie McGaughran; Max Muenke; Giovanni Neri
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

2.  Elements of morphology: standard terminology for the periorbital region.

Authors:  Bryan D Hall; John M Graham; Suzanne B Cassidy; John M Opitz
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

3.  Elements of morphology: standard terminology for the hands and feet.

Authors:  Leslie G Biesecker; Jon M Aase; Carol Clericuzio; Fiorella Gurrieri; I Karen Temple; Helga Toriello
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

4.  Elements of morphology: standard terminology for the lips, mouth, and oral region.

Authors:  John C Carey; M Michael Cohen; Cynthia J R Curry; Koenraad Devriendt; Lewis B Holmes; Alain Verloes
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

5.  Elements of morphology: standard terminology for the ear.

Authors:  Alasdair Hunter; Jaime L Frias; Gabriele Gillessen-Kaesbach; Helen Hughes; Kenneth Lyons Jones; Louise Wilson
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

6.  Elements of morphology: standard terminology for the nose and philtrum.

Authors:  Raoul C M Hennekam; Valerie Cormier-Daire; Judith G Hall; Károly Méhes; Michael Patton; Roger E Stevenson
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

  6 in total
  29 in total

Review 1.  New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.

Authors:  Paul N Schofield; John P Sundberg; Robert Hoehndorf; Georgios V Gkoutos
Journal:  Brief Funct Genomics       Date:  2011-09       Impact factor: 4.241

2.  Elements of morphology: standard terminology for the external genitalia.

Authors:  Raoul C M Hennekam; Judith E Allanson; Leslie G Biesecker; John C Carey; John M Opitz; Eric Vilain
Journal:  Am J Med Genet A       Date:  2013-05-06       Impact factor: 2.802

Review 3.  The ontology of craniofacial development and malformation for translational craniofacial research.

Authors:  J F Brinkley; C Borromeo; M Clarkson; T C Cox; M J Cunningham; L T Detwiler; C L Heike; H Hochheiser; J L V Mejino; R S Travillian; L G Shapiro
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 4.  When to suspect a genetic syndrome.

Authors:  Benjamin D Solomon; Maximilian Muenke
Journal:  Am Fam Physician       Date:  2012-11-01       Impact factor: 3.292

5.  Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Authors:  William S Oetting; Peter N Robinson; Marc S Greenblatt; Richard G Cotton; Tim Beck; John C Carey; Sandra C Doelken; Marta Girdea; Tudor Groza; Carol M Hamilton; Ada Hamosh; Berit Kerner; Jacqueline A L MacArthur; Donna R Maglott; Barend Mons; Heidi L Rehm; Paul N Schofield; Beverly A Searle; Damian Smedley; Cynthia L Smith; Inge Thomsen Bernstein; Andreas Zankl; Eric Y Zhao
Journal:  Hum Mutat       Date:  2013-04       Impact factor: 4.878

Review 6.  Polydactyly: how many disorders and how many genes? 2010 update.

Authors:  Leslie G Biesecker
Journal:  Dev Dyn       Date:  2011-03-28       Impact factor: 3.780

7.  Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

Authors:  Muhsin Elmas; Basak Gogus
Journal:  Mol Syndromol       Date:  2020-02-01

8.  The biological coherence of human phenome databases.

Authors:  Martin Oti; Martijn A Huynen; Han G Brunner
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

9.  Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia.

Authors:  Daniela V Luquetti; Babette S Saltzman; Kathleen C Sie; Craig B Birgfeld; Brian G Leroux; Kelly N Evans; James M Smartt; David D Tieu; Daniel J Dudley; Carrie L Heike
Journal:  Am J Med Genet A       Date:  2013-04-24       Impact factor: 2.802

10.  Linking human diseases to animal models using ontology-based phenotype annotation.

Authors:  Nicole L Washington; Melissa A Haendel; Christopher J Mungall; Michael Ashburner; Monte Westerfield; Suzanna E Lewis
Journal:  PLoS Biol       Date:  2009-11-24       Impact factor: 8.029

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