Literature DB >> 19152421

Elements of morphology: standard terminology for the ear.

Alasdair Hunter1, Jaime L Frias, Gabriele Gillessen-Kaesbach, Helen Hughes, Kenneth Lyons Jones, Louise Wilson.   

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 introduce the anatomy of the ear and define and illustrate the terms that describe the major characteristics of the ear.

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Year:  2009        PMID: 19152421     DOI: 10.1002/ajmg.a.32599

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


  29 in total

1.  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

2.  Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Authors:  Christina Halgren; Nete M Nielsen; Lusine Nazaryan-Petersen; Asli Silahtaroglu; Ryan L Collins; Chelsea Lowther; Susanne Kjaergaard; Morten Frisch; Maria Kirchhoff; Karen Brøndum-Nielsen; Allan Lind-Thomsen; Yuan Mang; Zahra El-Schich; Claire A Boring; Mana M Mehrjouy; Peter K A Jensen; Christina Fagerberg; Lotte N Krogh; Jan Hansen; Thue Bryndorf; Claus Hansen; Michael E Talkowski; Mads Bak; Niels Tommerup; Iben Bache
Journal:  Am J Hum Genet       Date:  2018-05-24       Impact factor: 11.025

Review 3.  Genetic Advances in the Understanding of Microtia.

Authors:  Craig Gendron; Ann Schwentker; John A van Aalst
Journal:  J Pediatr Genet       Date:  2016-09-23

Review 4.  Microtia: epidemiology and genetics.

Authors:  Daniela V Luquetti; Carrie L Heike; Anne V Hing; Michael L Cunningham; Timothy C Cox
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

5.  Microtia-anotia: a global review of prevalence rates.

Authors:  Daniela Varela Luquetti; Emanuele Leoncini; Pierpaolo Mastroiacovo
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2011-06-07

6.  The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

Authors:  Saskia M J Hopman; Johannes H M Merks; Corianne A J M de Borgie; Cora M Aalfs; Leslie G Biesecker; Trevor Cole; Charis Eng; Eric Legius; Eamonn R Maher; Max M van Noesel; Alain Verloes; David H Viskochil; Anja Wagner; Rosanna Weksberg; Huib N Caron; Raoul C M Hennekam
Journal:  Eur J Cancer       Date:  2013-07-12       Impact factor: 9.162

7.  Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

Authors:  Sonja A de Munnik; Louise S Bicknell; Salim Aftimos; Jumana Y Al-Aama; Yolande van Bever; Michael B Bober; Jill Clayton-Smith; Alaa Y Edrees; Murray Feingold; Alan Fryer; Johanna M van Hagen; Raoul C Hennekam; Maaike C E Jansweijer; Diana Johnson; Sarina G Kant; John M Opitz; A Radha Ramadevi; Willie Reardon; Alison Ross; Pierre Sarda; Constance T R M Schrander-Stumpel; Jeroen Schoots; I Karen Temple; Paulien A Terhal; Annick Toutain; Carol A Wise; Michael Wright; David L Skidmore; Mark E Samuels; Lies H Hoefsloot; Nine V A M Knoers; Han G Brunner; Andrew P Jackson; Ernie M H F Bongers
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

8.  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

9.  Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.

Authors:  Alasdair G W Hunter; Julianne S Collins; Matthew A Deardorff; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2009-10       Impact factor: 2.802

10.  Preferential associated anomalies in 818 cases of microtia in South America.

Authors:  Daniela V Luquetti; Timothy C Cox; Jorge Lopez-Camelo; Maria da Graça Dutra; Michael L Cunningham; Eduardo E Castilla
Journal:  Am J Med Genet A       Date:  2013-03-29       Impact factor: 2.802

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