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Literature DB >> 23996063

[Choroid-retinal coloboma and unusual facial features in a 16-year-old girl].

A G Schnaidt¹, Z Gatzioufas, B Seitz, B Käsmann-Kellner.

Abstract

Entities: Disease Species

Mesh：

Year: 2013 PMID： 23996063 DOI： 10.1007/s00347-013-2894-y

Source DB: PubMed Journal: Ophthalmologe ISSN： 0941-293X Impact factor: 1.059

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9 in total

1. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Authors: Tserendulam Batsukh; Lasse Pieper; Anna M Koszucka; Nina von Velsen; Sigrid Hoyer-Fender; Miriam Elbracht; Jorieke E H Bergman; Lies H Hoefsloot; Silke Pauli
Journal: Hum Mol Genet Date: 2010-05-07 Impact factor: 6.150

2. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Authors: M C J Jongmans; R J Admiraal; K P van der Donk; L E L M Vissers; A F Baas; L Kapusta; J M van Hagen; D Donnai; T J de Ravel; J A Veltman; A Geurts van Kessel; B B A De Vries; H G Brunner; L H Hoefsloot; C M A van Ravenswaaij
Journal: J Med Genet Date: 2005-09-09 Impact factor: 6.318

Review 3. CHARGE association: an update and review for the primary pediatrician.

Authors: K D Blake; S L Davenport; B D Hall; M A Hefner; R A Pagon; M S Williams; A E Lin; J M Graham
Journal: Clin Pediatr (Phila) Date: 1998-03 Impact factor: 1.168

4. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Authors: D Sanlaville; H C Etchevers; M Gonzales; J Martinovic; M Clément-Ziza; A-L Delezoide; M-C Aubry; A Pelet; S Chemouny; C Cruaud; S Audollent; C Esculpavit; G Goudefroye; C Ozilou; C Fredouille; N Joye; N Morichon-Delvallez; Y Dumez; J Weissenbach; A Munnich; J Amiel; F Encha-Razavi; S Lyonnet; M Vekemans; T Attié-Bitach
Journal: J Med Genet Date: 2005-09-16 Impact factor: 6.318

[Choroid-retinal coloboma and unusual facial features in a 16-year-old girl].

1. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

2. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Review 3. CHARGE association: an update and review for the primary pediatrician.

4. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

5. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.

6. CHD7 cooperates with PBAF to control multipotent neural crest formation.

7. Language performance in children with cochlear implants and additional disabilities.

8. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

9. Choanal atresia and associated multiple anomalies.