Khalid Taibah

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Hearing impairment is the common human sensorineural disorder and is a genetically heterogeneous phenotype for which more than 100 genomic loci have been mapped so far. ILDR1 located on chromosome 3q13.33, encodes a putative transmembrane receptor containing an immunoglobulin-like domain. We used a combination of autozygosity mapping and candidate gene(More)
Solitary fibrous tumors are uncommon spindle cell neoplasms generally associated with serosal surfaces, especially the pleura. Recently, these tumors have been documented in a number of extrapleural sites including the head and neck. So far only two cases of parapharyngeal solitary fibrous tumor have been reported in the English literature. Rare location of(More)
Hearing loss is one of the most common sensory disorders in humans and has a genetic cause in 50% of the cases. Our recent studies indicate that nonsyndromic hearing loss (NSHL) in the Saudi Arabian population is genetically heterogeneous and is not caused by mutations in GJB2 and GJB6, the most common genes for deafness in various populations worldwide.(More)
PURPOSE Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms. To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most(More)
BACKGROUND Hearing loss is a clinically and genetically heterogeneous disorder. Mutations in the DFNB1 locus have been reported to be the most common cause of autosomal recessive non-syndromic hearing loss worldwide. Apart from DFNB1, many other loci and their underlying genes have also been identified and the basis of our study was to provide a(More)
The transmeatal approach (TMA) is a new approach for cochlear and middle-ear implantation. It is an open-tunnel technique that differs from closed transcanal non-mastoidectomy approaches. The TMA involves creating an open transcanal tunnel starting from the annulus superior to the chorda tympani laterally towards the suprameatal region. Then, through the(More)
Cell lines were established from fresh tumor biopsies from two Saudi patients with poorly differentiated nasopharyngeal carcinoma (NPC). Cytogenetic analysis on Giemsa-banded metaphase cells revealed complex, abnormal karyotypes in both patients with modal chromosome numbers of 77 and 52. A der(3)dup(3)(q25-q2?7) or t(3;?)(q27;?) was observed in both cell(More)
We describe a case of lingual thyroid (LT) with primary hypothyroidism, presenting during pregnancy and continuing beyond it with oropharyngeal obstructive symptoms and sleep apnoea syndrome (SAS) of mixed type. Although SAS of a combined obstructive and central type should not be too surprising in a case of LT with hypothyroidism, we were unable to find(More)
INTRODUCTION Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy. Classical AS is a progressive renal disease presenting with a triad of(More)