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Congenital ear anomaly NOS (disorder)

Known as: MEDFODTE FEIL, EAR MALFORMATION, Aangeboren afwijkingen oor 
An abnormality of the ear. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

16 relations
Abnormality of the outer earEar structureEncephalocraniocutaneous lipomatosisFANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)

Narrower (4)

Accessory auricle of earCongenital absence of external earCongenital small earsMacrotia

Broader (3)

Congenital AbnormalityCongenital DisordersFetal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
CT and MR imaging of the inner ear and brain in children with congenital sensorineural hearing loss.
Imaging plays an important role in the evaluation of congenital sensorineural hearing loss. In children who are candidates for… 
Highly Cited
2007
Highly Cited
2007
Human Ear Recognition in 3D
Human ear is a new class of relatively stable biometrics that has drawn researchers' attention recently. In this paper, we… 
Review
2005
Review
2005
Updated diagnostic criteria for CHARGE syndrome: A proposal
Alain Verloes*Clinical Genetics Unit, Hoˆpital Robert Debre´, Paris, France‘‘CHARGE association’’ is a well-known entity of… 
Highly Cited
2004
Highly Cited
2004
Six1 controls patterning of the mouse otic vesicle
Six1 is a member of the Six family homeobox genes, which function as components of the Pax-Six-Eya-Dach gene network to control… 
Highly Cited
2003
Highly Cited
2003
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.
To the Editor: “Parental imprinting” refers to an epigenetic marking of genes that results in monoallelic expression. This… 
Highly Cited
2003
Highly Cited
2003
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival
Gfi1 was first identified as causing interleukin 2-independent growth in T cells and lymphomagenesis in mice. Much work has shown… 
Highly Cited
2002
Highly Cited
2002
Use of Laboratory Evaluation and Radiologic Imaging in the Diagnostic Evaluation of Children With Sensorineural Hearing Loss
Objective Laboratory testing and radiologic imaging are commonly used to delineate syndromic from nonsyndromic sensorineural HL… 
Highly Cited
2001
Highly Cited
2001
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
BACKGROUND Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental… 
Highly Cited
1995
Highly Cited
1995
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Mutations have been reported for several craniosynostotic disorders in exon IIIa (exon U or 7) or IIIc (exon B or 9) of the… 
Highly Cited
1983
Highly Cited
1983
Hemifacial microsomia and variants: pedigree data.
Ear malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations have been… 
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