Search Results - "Alorainy, May"

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    Bosley–Salih–Alorainy syndrome in patients from India by Patil, Siddaramappa J., Karthik, Gadabanahalli Ashok, Bhavani, Gandham SriLakshmi, Bhat, Venkatraman, Matalia, Jyoti, Shah, Jhanvi, Shukla, Anju, Girisha, Katta Mohan

    “…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 by Wang, Hongjie, He, Jingwei, Han, Xuemei, Wu, Xiuzhi, Ye, Xuebin, Lv, Wenchao, Zu, Yao

    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 by Wang, Hongjie, He, Jingwei, Han, Xuemei, Wu, Xiuzhi, Ye, Xuebin, Lv, Wenchao, Zu, Yao

    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 by AlMarzoug, Alanoud, AlOrainy, May, AlTawil, Lama, AlHayaza, Ghada, AlAnazi, Rasha, AlIssa, Ahmed, AlSheikh, Afaf, AlKhalifah, Abdullah, AlHarithy, Ruaa

    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 by Alorainy, May, Buchanan, Kendall, Nussinow, Tyler, Rabinowitz, Judy B, Cyr, Peggy, Seiverling, Elizabeth V

    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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    Acrodermatitis Continua of Hallopeau with Bone Resorption in an 8-Year-Old Patient: A Case Report by Alorainy, May, Alshaya, Mohammed, Al-Rikabi, Ammar, Ayesh, Mohammed, Alsaif, Fahad

    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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    Congenital Cranial Dysinnervation Disorders: A Literature Review by Fels, Rebecca

    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 by Fels, Rebecca

    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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    Clinical characterization of the HOXA1 syndrome BSAS variant by BOSLEY, T. M, SALIH, M. A, ALORAINY, I. A, OYSTRECK, D. T, NESTER, M, ABU-AMERO, K. K, TISCHFIELD, M. A, ENGLE, E. C

    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 by Bosley, Thomas M., Alorainy, Ibrahim A., Salih, Mustafa A., Aldhalaan, Hesham M., Abu-Amero, Khaled K., Oystreck, Darren T., Tischfield, Max A., Engle, Elizabeth C., Erickson, Robert P.

    “…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 by Kompis, Martin, Langmair, Manfred, Mantokoudis, Georgios, Weder, Stefan, Gawliczek, Tom, Caversaccio, Marco Domenico

    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 by Makki, Nadja, Capecchi, Mario R.

    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 by Oystreck, Darren T., MMedSci, OC(C), Salih, Mustafa A., MD, DrMedSci, Bosley, Thomas M., MD

    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 by Abu-Amero, Khaled K., Kondkar, Altaf A., Salih, Mustafa A. M., Alorainy, Ibrahim A., Khan, Arif O., Oystreck, Darren T., Bosley, Thomas M.

    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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    A Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding's Disease by Alorainy, Jehad, Alorfi, Yara, Karanjia, Rustum, Badeeb, Nooran

    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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