Literature DB >> 6024864

Mandibulo-facial dysostosis. (Treacher-Collins syndrome).

L E Fazen, J Elmore, H L Nadler.   

Abstract

Entities:  

Mesh：

Year:  1967        PMID： 6024864     DOI： 10.1001/archpedi.1967.02090190051001

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


× No keyword cloud information.
  24 in total

1.  Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development.

Authors:  D P Szeto; C Rodriguez-Esteban; A K Ryan; S M O'Connell; F Liu; C Kioussi; A S Gleiberman; J C Izpisúa-Belmonte; M G Rosenfeld
Journal:  Genes Dev       Date:  1999-02-15       Impact factor: 11.361

2.  The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Authors:  M J Dixon; A P Read; D Donnai; A Colley; J Dixon; R Williamson
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

Review 3.  Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.

Authors:  Jeffrey M Lipton; Steven R Ellis
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722

4.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

Review 5.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

6.  Hereditary cup-shaped ears and the Pierre Robin syndrome.

Authors:  D M Peterson; R N Schimke
Journal:  J Med Genet       Date:  1968-03       Impact factor: 6.318

Review 7.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

8.  Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Authors:  M J Dixon; E Haan; E Baker; D David; N McKenzie; R Williamson; J Mulley; M Farrall; D Callen
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

9.  A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.

Authors:  J Dixon; A J Gladwin; S K Loftus; J H Riley; R Perveen; J J Wasmuth; R Anand; M J Dixon
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

10.  Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Authors:  Amy Østertun Geirdal; Britt Øverland; Ketil Heimdal; Kari Storhaug; Pamela Asten; Harriet Akre
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-02-28       Impact factor: 2.503
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.