Search Results - "Alorainy, May"
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Bosley–Salih–Alorainy syndrome in patients from India
Published in American journal of medical genetics. Part A (01-11-2020)“…Bi‐allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley–Salih–Alorainy syndrome (BSAS…”
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hoxa1a -Null Zebrafish as a Model for Studying HOXA1 -Associated Heart Malformation in Bosley-Salih-Alorainy Syndrome
Published in Biology (Basel, Switzerland) (23-06-2023)“…Mutations in can lead to diseases such as Bosley-Salih-Alorainy syndrome, involving severe cardiovascular malformations…”
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Ihoxa1a/I-Null Zebrafish as a Model for Studying IHOXA1/I-Associated Heart Malformation in Bosley–Salih–Alorainy Syndrome
Published in Biology (Basel, Switzerland) (01-06-2023)“… Mutations in HOXA1 can lead to diseases such as Bosley–Salih–Alorainy syndrome, involving severe cardiovascular malformations…”
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Alopecia areata and tofacitinib: a prospective multicenter study from a Saudi population
Published in International journal of dermatology (01-07-2022)“…Background Alopecia areata (AA) is an autoimmune disorder characterized by nonscarring hair loss that can involve the scalp, face, and body. Severe AA subtypes…”
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A Systematic Review of Diagnoses with Rosettes Under Dermoscopy
Published in Dermatology practical & conceptual (01-04-2024)“…Rosettes are a cluster of shiny white dots in the shape of a four-leaf clover seen under polarized dermoscopic light. Historically, rosettes were primarily…”
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Use of topical clascoterone for the treatment of hidradenitis suppurativa
Published in JAAD Case Reports (01-06-2023)Get full text
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Acrodermatitis Continua of Hallopeau with Bone Resorption in an 8-Year-Old Patient: A Case Report
Published in Case reports in dermatology (01-09-2017)“…Acrodermatitis continua of Hallopeau (ACH) is an uncommon inflammatory disease manifesting as sterile pustular eruption of the fingers and toes. The disease is…”
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Bosley-Salih-Alorainy syndrome in patients from India
Published in American journal of medical genetics. Part A (01-11-2020)Get full text
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Congenital Cranial Dysinnervation Disorders: A Literature Review
Published in American orthoptic journal (01-01-2017)“…Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as…”
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Congenital Cranial Dysinnervation Disorders: A Literature Review
Published in American orthoptic journal (01-01-2017)“…Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as…”
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11
Use of topical clascoterone for the treatment of hidradenitis suppurativa
Published in JAAD case reports (01-06-2023)Get full text
Report -
12
Acrodermatitis Continua of Hallopeau with Bone Resorption in an 8-Year-Old Patient: A Case Report
Published in Case reports in dermatology (01-09-2017)Get full text
Report -
13
Clinical characterization of the HOXA1 syndrome BSAS variant
Published in Neurology (18-09-2007)“…The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations…”
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The clinical spectrum of homozygous HOXA1 mutations
Published in American journal of medical genetics. Part A (15-05-2008)“…We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley–Salih–Alorainy syndrome (BSAS…”
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Using a Bone Conduction Hearing Device as a Tactile Aid
Published in Audiology research (Pavia, Italy) (01-06-2023)“…–Alorainy Syndrome and bilateral cochlear aplasia. Methods: After it was determined that cochlear or brainstem implants were not an option and tactile aids were not available anymore, a bone conduction device (BCD…”
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Cardiovascular defects in a mouse model of HOXA1 syndrome
Published in Human molecular genetics (01-01-2012)“… A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome…”
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When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances
Published in Canadian journal of ophthalmology (01-12-2011)“… Results Patients with oculopharyngeal muscular dystrophy, congenital myasthenic syndrome, congenital fibrosis of the extraocular muscles type 3, Bosley-Salih-Alorainy syndrome, and horizontal gaze…”
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Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder
Published in Ophthalmic genetics (01-03-2013)“… (DRS) with severe hearing loss bilaterally and an absent right vertebral artery, mimicking the major features of the Bosley-Salih-Alorainy variant of the HOXA1 spectrum…”
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Evaluation of the Impact of Artificial Intelligence on Clinical Practice of Radiology in Saudi Arabia
Published in Journal of multidisciplinary healthcare (01-01-2024)“…Artificial Intelligence (AI) is becoming integral to the health sector, particularly radiology, because it enhances diagnostic accuracy and optimizes patient…”
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A Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding's Disease
Published in Eye and brain (30-07-2024)“…Leber Hereditary Optic Neuropathy (LHON) stands as a distinctive maternally inherited mitochondrial disorder marked by painless, subacute central vision loss,…”
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