Literature DB >> 11241469

A recognizable syndrome within CHARGE association: Hall-Hittner syndrome.

J M Graham1.   

Abstract

Entities:  

Mesh：

Year:  2001        PMID： 11241469     DOI： 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1132>3.0.co;2-j

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  9 in total

1.  Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Authors:  Caitlin L Hale; Adrienne N Niederriter; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2015-11-21       Impact factor: 2.802

2.  Visual electrophysiological findings in CHARGE syndrome with bilateral colobomas: a case report.

Authors:  R Hamilton; P Gonzalez; J Dudgeon; H Mactier
Journal:  Doc Ophthalmol       Date:  2010-03-09       Impact factor: 2.379

3.  Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome.

Authors:  Jennifer Ha; Frederick Ong; Bradley Wood; Shyan Vijayasekaran
Journal:  Ochsner J       Date:  2016

Review 4.  CHARGE syndrome.

Authors:  Kim D Blake; Chitra Prasad
Journal:  Orphanet J Rare Dis       Date:  2006-09-07       Impact factor: 4.123

5.  Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Authors:  Seema R Lalani; Arsalan M Safiullah; Susan D Fernbach; Karine G Harutyunyan; Christina Thaller; Leif E Peterson; John D McPherson; Richard A Gibbs; Lisa D White; Margaret Hefner; Sandra L H Davenport; John M Graham; Carlos A Bacino; Nancy L Glass; Jeffrey A Towbin; William J Craigen; Steven R Neish; Angela E Lin; John W Belmont
Journal:  Am J Hum Genet       Date:  2005-12-29       Impact factor: 11.025

6.  SNP genotyping to screen for a common deletion in CHARGE syndrome.

Authors:  Seema R Lalani; Arsalan M Safiullah; Susan D Fernbach; Michael Phillips; Carlos A Bacino; Laura M Molinari; Nancy L Glass; Jeffrey A Towbin; William J Craigen; John W Belmont
Journal:  BMC Med Genet       Date:  2005-02-14       Impact factor: 2.103

7.  Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.

Authors:  O Giray Bozkaya; E Ataman; C Randa; D Onur Cura; S Gürsoy; O Aksel; A Ulgenalp
Journal:  Balkan J Med Genet       Date:  2015-12-30       Impact factor: 0.519

8.  CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

Authors:  Cheuk Lam Lau; Yuet Yee Chee; Brian Hon Yin Chung; Ming Sum Rosanna Wong
Journal:  BMJ Case Rep       Date:  2020-07-22

9.  Outcomes of long-term audiological rehabilitation in charge syndrome.

Authors:  P Trevisi; A Ciorba; C Aimoni; R Bovo; A Martini
Journal:  Acta Otorhinolaryngol Ital       Date:  2016-06       Impact factor: 2.124
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.