Search Results - "Albakheet, AlBandary"

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1 : Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome by AlBakheet, Albandary, AlQudairy, Hanan, Alkhalifah, Joud, Almoaily, Sheikhah, Kaya, Namik, Rahbeeni, Zuhair

“…Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan syndrome (LNS). The…”
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Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women by Colak, Dilek, Nofal, Asmaa, Albakheet, Albandary, Nirmal, Maimoona, Jeprel, Hatim, Eldali, Abdelmoneim, Al-Tweigeri, Taher, Tulbah, Asma, Ajarim, Dahish, Malik, Osama Al, Inan, Mehmet S, Kaya, Namik, Park, Ben H, Bin Amer, Suad M

“…Breast cancer in young women is more aggressive with a poorer prognosis and overall survival compared to older women diagnosed with the disease. Despite recent…”
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A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 by Al-Hassnan, Zuhair, AlDosary, Mazhor, AlHargan, Aljouhra, AlQudairy, Hanan, Almass, Rawan, Alahmadi, Khaled Omar, AlShahrani, Saif, AlBakheet, Albandary, Almuhaizea, Mohammad A., Taylor, Robert W., Colak, Dilek, Kaya, Namik

“…Iron-sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4)…”
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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) by Seidahmed, Mohammed Z, Hamad, Muddathir H, AlBakheet, Albandary, Elmalik, Salah A, AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M, Colak, Dilek, Salih, Mustafa A, Kaya, Namik

“…Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family…”
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Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature by AlQudairy, Hanan, AlDhalaan, Hesham, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, AlBakheet, Albandary, Alomrani, Adeeb, Alharbi, Omar A, Tous, Ehab, AlSayed, Moeen, AlZaidan, Hamad, AlRasheed, Maha M, AlOdaib, Ali, Kaya, Namik

“…(solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina,…”
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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families by Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C, Arold, Stefan T, Dababo, Mohammad Anas, Alharbi, Omar A, Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M, Oláhová, Monika, Al-Shahrani, Saif A, AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W, AlOwain, Mohammed, Kaya, Namik

“…The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in , also…”
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SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion by Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik

“…SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous…”
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Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system by Chedrawi, Aziza K, Al-Hassnan, Zuhair N, Al-Muhaizea, Muhammad, Colak, Dilek, Al-Younes, Banan, Albakheet, AlBandary, Tulba, Sahar, Kaya, Namik

“…Abstract Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various…”
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Identification of novel genomic imbalances in Saudi patients with congenital heart disease by Al-Hassnan, Zuhair N, Albawardi, Waad, Almutairi, Faten, AlMass, Rawan, AlBakheet, Albandary, Mustafa, Osama M, AlQuait, Laila, Shinwari, Zarghuna M A, Wakil, Salma, Salih, Mustafa A, Al-Fayyadh, Majid, Hassan, Saeed M, Aljoufan, Mansour, Al-Nakhli, Osima, Levy, Brynn, AlMaarik, Balsam, Al-Hakami, Hana A, Alsagob, Maysoon, Colak, Dilek, Kaya, Namik

“…Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations…”
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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking by Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik

“…Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein…”
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Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome by Al-Muhaizea, Mohammad A., AlQuait, Laila, AlRasheed, Afnan, AlHarbi, Shoug, Albader, Anoud Abdulmalik, AlMass, Rawan, Albakheet, Albandary, Alhumaidan, Abdullah, AlRasheed, Maha M., Colak, Dilek, Kaya, Namik

“…•Key features of CMS are hypotonia with fatigable muscle weakness.•Pyridostigmine therapy gradually improved our patient's motor milestones.•We found a…”
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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay by Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

“…Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport…”
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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy by Altassan, Ruqaiah, AlQudairy, Hanan, AlJebreen, Sarah, AlMuhaizea, Mohammed, Al‐Hindi, Hindi, Pena‐Guerra, Karla A., Ghebeh, Hazem, Almzroua, Amer, Albakheet, Albandary, AlDosary, Mazhor, Colak, Dilek, Arold, Stefan T., Kaya, Namik

“…Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently,…”
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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population by Albakheet, AlBandary, Almuallami, Duaa, Almass, Rawan, Qari, Alya, Kenana, Rosan, AlQudairy, Hanan, Huma, Rozeena, Binomar, Hadeel, Wakil, Salma Majid, Alowain, Mohammad, Colak, Dilek, Kaya, Namik, AlSayed, Moeenaldeen D

“…Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we…”
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Reply by Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Ozand, Pinar T.

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Reply by Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Ozand, Pinar T.

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Reply by Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Ozand, Pinar T.

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Reply by Kaya, Namik, Colak, Dilek, Albakheet, Albandary, Ozand, Pinar T

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A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV by AlBakheet, AlBandary, Qari, Aliya, Colak, Dilek, Rasheed, Anas, Kaya, Namik, Al-Sayed, Moeenaldeen

“…Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder reported among Ashkenazi Jews and to a lesser extent in other ethnic groups…”
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A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts by Aldhalaan, Hesham, AlBakheet, Albandary, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, Cardona-Londoño, Kelly J, Alahmadi, Khalid Omar, AlQudairy, Hanan, AlRasheed, Maha M, Colak, Dilek, Arold, Stefan T, Kaya, Namik

“…Pathogenic variants in contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities…”
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