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Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

Known as: Hyper Immunoglobulin E Syndrome, Autosomal Recessive, HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, HIES, Autosomal Recessive 
National Institutes of Health

Related topics

Related topics

8 relations
AsthmaAutosomal recessive inheritanceDOCK8, EX5-24, DELDermatitis, Atopic

Broader (1)

Job Syndrome

Papers overview

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Highly Cited
2019
Highly Cited
2019
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural… 
Highly Cited
2015
Highly Cited
2015
ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
Mutations in the ALS5/SPG11/ KIAA1840 gene cause autosomal recessive hereditary spastic paraplegia or autosomal recessive… 
Highly Cited
2009
Highly Cited
2009
Recessive twinkle mutations cause severe epileptic encephalopathy.
The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA… 
Highly Cited
2004
Highly Cited
2004
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
Erythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder of haem biosynthesis characterised by the onset in early… 
Review
2004
Review
2004
Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.
Highly Cited
2002
Highly Cited
2002
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
Abstract. Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively… 
Highly Cited
2001
Highly Cited
2001
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which patients undergo premature ageing and have a… 
Highly Cited
2000
Highly Cited
2000
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
Highly Cited
1993
Highly Cited
1993
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory… 
Highly Cited
1992
Highly Cited
1992
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location… 
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