Congenital hearing impairment (Q36390461)

13 August 2017

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title

Congenital hearing impairment. (English)

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13 August 2017

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1

Caroline D Robson

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13 August 2017

publication date

8 February 2006

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13 August 2017

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13 August 2017

volume

36

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13 August 2017

issue

4

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13 August 2017

page(s)

309-324

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Normal modiolus: CT appearance in patients with a large vestibular aqueduct

13 August 2017

cites work

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https://api.crossref.org/works/10.1007/S00247-005-0042-9

Recovery and probable persistence of cytomegalovirus in human inner ear fluid without cochlear damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00247-005-0042-9

Auditory and temporal bone abnormalities in CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00247-005-0042-9

Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00247-005-0042-9

Connexin 26 studies in patients with sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00247-005-0042-9

Cochlear Implants in Children With Congenital Inner Ear Malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00247-005-0042-9

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

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12 December 2020

CHARGE syndrome: 2005

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12 December 2020

The functional assessment of deaf and hard of hearing students.

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12 December 2020

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome

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12 December 2020

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

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12 December 2020

Infectious Diseases Society of America and Centers for Disease Control: Summary of a Workshop on Surveillance for Congenital Cytomegalovirus Disease

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12 December 2020

Neonatal hearing screening with otoscopy, auditory brain stem response, and otoacoustic emissions

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12 December 2020

The Large Vestibular Aqueduct Syndrome

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12 December 2020

Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher.

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12 December 2020

Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

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12 December 2020

MR evaluation of vestibulocochlear anomalies associated with large endolymphatic duct and sac.

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12 December 2020

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

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12 December 2020

Temporal bone pathology in fetuses exposed to isotretinoin

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12 December 2020

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

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12 December 2020

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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12 December 2020

The genetics of deafness

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12 December 2020

Choanal atresia and associated multiple anomalies

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12 December 2020

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

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12 December 2020

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

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12 December 2020

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

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12 December 2020

Minor works of Carlo Mondini: the anatomical section of a boy born deaf

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12 December 2020

Syndromic ear anomalies and renal ultrasounds

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12 December 2020

Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations

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12 December 2020

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

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12 December 2020

Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene

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12 December 2020

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12 December 2020

Temporal bone findings in a family with branchio-oto-renal syndrome (BOR).

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12 December 2020

A wider role for congenital cytomegalovirus infection in sensorineural hearing loss

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12 December 2020

Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter.

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12 December 2020

Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings

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12 December 2020

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

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12 December 2020

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)

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12 December 2020

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12 December 2020

Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Associa

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12 December 2020

Toronto's Hospital for Sick Children study of traumatic sudden sensorineural hearing loss

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12 December 2020

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

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12 December 2020

Experimental viral infections of the inner ear. I. Acute infections of the newborn hamster labyrinth

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12 December 2020

Neuroradiographic findings in the newborn period and long-term outcome in children with symptomatic congenital cytomegalovirus infection

1 reference

12 December 2020

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

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12 December 2020

Retinoic acid embryopathy

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12 December 2020

Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection

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12 December 2020

Radiological malformations of the ear in Pendred syndrome

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12 December 2020

X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher

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12 December 2020

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

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12 December 2020

Predictors of hearing loss in children with symptomatic congenital cytomegalovirus infection

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12 December 2020

Aplasia of posterior semicircular canal in Waardenburg syndrome type II

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12 December 2020

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

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12 December 2020

Etiology of hearing loss in children. Nongenetic causes

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12 December 2020

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

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12 December 2020

Updated diagnostic criteria for CHARGE syndrome: a proposal

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12 December 2020

Beginning of a molecular era in hearing and deafness

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12 December 2020

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene

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12 December 2020

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome

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12 December 2020

Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear.

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12 December 2020

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings.

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12 December 2020

Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes

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12 December 2020

Cytomegalovirus endolabyrinthitis

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12 December 2020

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

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12 December 2020

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

1 reference

12 December 2020

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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12 December 2020

Effect of ganciclovir therapy on hearing in symptomatic congenital cytomegalovirus disease involving the central nervous system: a randomized, controlled trial

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12 December 2020

CT of the temporal bone in the CHARGE association

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12 December 2020

Mondini cochlea in Pendred's syndrome. A histological study

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12 December 2020

Early hearing detection and intervention programs: opportunities for genetic services

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12 December 2020

Inner ear abnormalities in patients with Goldenhar syndrome.

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12 December 2020

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

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12 December 2020

Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A Syndrome

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12 December 2020

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

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12 December 2020

Nongenetic causes of hearing loss

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12 December 2020

Detection of human cytomegalovirus DNA in perilymph of patients with sensorineural hearing loss using real-time PCR.

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12 December 2020

10.1007/S00247-005-0042-9

Identifiers

DOI

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13 August 2017

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