Literature DB >> 16024866

Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

S V Goverdhan, I K Temple, J Self, A J Lotery, M J Dixon, A R Evans.   

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Year:  2005        PMID： 16024866      PMCID： PMC1772761          DOI： 10.1136/bjo.2004.064139

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  10 in total

Review 1.  Treacher Collins syndrome.

Authors:  K L Marsh; M J Dixon
Journal:  Adv Otorhinolaryngol       Date:  2000

2.  Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.

Authors:  J L Prenner; G Binenbaum; D F Carpentieri; S M Goldstein; R S Douglas; E Ruchelli; J A Katowitz; R W Hertle
Journal:  Br J Ophthalmol       Date:  2002-04       Impact factor: 4.638

3.  Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3.

Authors: 
Journal:  Ophthalmology       Date:  2000-12       Impact factor: 12.079

4.  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

5.  Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.

Authors:  M Hansen; M J Lucarelli; D A Whiteman; J B Mulliken
Journal:  Am J Med Genet       Date:  1996-01-02

6.  Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography.

Authors:  P A Underhill; L Jin; A A Lin; S Q Mehdi; T Jenkins; D Vollrath; R W Davis; L L Cavalli-Sforza; P J Oefner
Journal:  Genome Res       Date:  1997-10       Impact factor: 9.043

7.  Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

Authors:  J Dixon; C Brakebusch; R Fässler; M J Dixon
Journal:  Hum Mol Genet       Date:  2000-06-12       Impact factor: 6.150

8.  Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia.

Authors:  P X Xu; J Adams; H Peters; M C Brown; S Heaney; R Maas
Journal:  Nat Genet       Date:  1999-09       Impact factor: 38.330

Review 9.  High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Authors:  A Splendore; E O Silva; L G Alonso; A Richieri-Costa; N Alonso; A Rosa; G Carakushanky; D P Cavalcanti; D Brunoni; M R Passos-Bueno
Journal:  Hum Mutat       Date:  2000-10       Impact factor: 4.878

10.  Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.

Authors: 
Journal:  Nat Genet       Date:  1996-02       Impact factor: 38.330
  10 in total
  2 in total

1.  Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Authors:  Gerarda Cappuccio; Margherita Lucia De Bernardi; Alessia Morlando; Cristina Peduto; Iris Scala; Michele Pinelli; Emanuele Bellacchio; Flavio Gioele Gallo; Adriano Magli; Carmen Plaitano; Mercedes Serrano; Leticia Pías; Jaume Català; Mercè Bolasell; Annalaura Torella; Vincenzo Nigro; Ginevra Zanni; Nicola Brunetti-Pierri
Journal:  Am J Med Genet A       Date:  2022-07-25       Impact factor: 2.578

2.  Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Authors:  Cibele Masotti; Camila C Ornelas; Alessandra Splendore-Gordonos; Ricardo Moura; Têmis M Félix; Nivaldo Alonso; Anamaria A Camargo; Maria Rita Passos-Bueno
Journal:  BMC Med Genet       Date:  2009-12-14       Impact factor: 2.103
  2 in total

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