• Publications
  • Influence
GJB2 mutations and degree of hearing loss: a multicenter study.
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, whichExpand
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Oculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms ofExpand
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The Insulin-Like Growth Factor-I Receptor
The nonclassical binding kinetics of IGF-I and insulin to their respective receptors, suggestive of negative cooperativity, can be readily explained by our recently proposed novel binding mechanism wh
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Screening of the ARX gene in 682 retarded males
The newly identified gene, ARX, when mutated has been shown to cause both syndromic and nonsyndromic forms of mental retardation. It seems that the less severe forms are due to polyalanine expansionsExpand
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Increasing the complexity: new genes and new types of albinism
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype.Expand
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Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
OBJECTIVE Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. OneExpand
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The A1555G mtDNA mutation in Danish hearing‐impaired patients: frequency and clinical signs
The A1555G mutation of the mtDNA is associated with both aminoglycoside‐induced and non‐syndromic hearing loss. The A1555G is relatively frequent in the Spanish and some Asian populations, but hasExpand
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Recent Advances in Imprinting Disorders
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development andExpand
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Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
The GJB2 (connexin 26) gene, one of the major genes responsible for autosomal recessive deafness, has been investigated previously by a variety of techniques, including PCR‐SSCP and sequencing of theExpand
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Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis
Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2–q13. Clinical features of AS include severe intellectualExpand
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