Search Results - "Alameer, Seham"

Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant by Maddirevula, Sateesh, Alameer, Seham, Ewida, Nour, de Sousa, Mirta Mittelstedt Leal, Bjørås, Magnar, Vågbø, Cathrine Broberg, Alkuraya, Fowzan S

“…ALKBH8 is a methyltransferase that modifies tRNAs by methylating the anticodon wobble uridine residue. The syndrome of ALKBH8 -related intellectual…”
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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield by Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, Zada, Abdul Ali Peer

“…Whole-exome sequencing (WES) can help identify known and novel pathogenic molecular aberrations. Here, we examined the diagnostic yield of WES in population…”
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NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency by Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian

“…Purpose Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure,…”
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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I by Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W

“…Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic…”
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Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene by Alowaysi, Maryam, Baadhaim, Moayad, Al-Shehri, Mohammad, Alzahrani, Hajar, Badkok, Amani, Attas, Hanouf, Zakri, Samer, Alameer, Seham, Malibari, Dalal, Hosawi, Manal, Daghestani, Mustafa, Al-Ghamdi, Khalid, muharraq, Mohammed, Zia, Asima, Tegne, Jesper, Alfadhel, Majid, Aboalola, Doaa, Alsayegh, Khaled

“…The neurometabolic disorder known as biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive condition linked to bi-allelic…”
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Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature by Algahtani, Hussein, Alameer, Seham, Marzouk, Yousef, Shirah, Bader

“…Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea…”
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Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort by Alharby, Essa, Faqeih, Eissa A., Saleh, Mohammed, Alameer, Seham, Almuntashri, Makki, Pastore, Annalisa, Samman, Manar A., Alnawfal, Abdullah M., Hashem, Mais, Zaytuni, Dimah, Alharbi, Ghadeer, Almannai, Mohammed, Alasmari, Ali, Mahmoud, Adel A., Alwadei, Ali H., Jad, Lamya, AlOtaibi, Ali, Al-Hakami, Fahad, Eyaid, Wafaa, Alkuraya, Fowzan S., Alfadhel, Majid, Peake, Roy W. A., Almontashiri, Naif A. M.

“…Purpose Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the…”
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The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia by Alfarsi, Anar, Alfadhel, Majid, Alameer, Seham, Alhashem, Amal, Tabarki, Brahim, Ababneh, Faroug, Al Fares, Ahmed, Al Mutairi, Fuad

“…Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a…”
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Diagnostic comparison between cord blood and filter paper for the screening of congenital hypothyroidism by Alameer, Seham, Althobaiti, Eman, Alshaikh, Saud, Turjoman, Meshari, Badriq, Feras, AlSofyani, Abeer, Mujalled, Mohammed, Borai, Anwar

“…Background Cord‐blood and heel‐prick TSH levels are essential in diagnosing and preventing the serious complications of congenital hypothyroidism, which mainly…”
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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients by Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic

“…Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal…”
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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations by Diaz, Jorge, Gérard, Xavier, Emerit, Michel-Boris, Areias, Julie, Geny, David, Dégardin, Julie, Simonutti, Manuel, Guerquin, Marie-Justine, Collin, Thibault, Viollet, Cécile, Billard, Jean-Marie, Métin, Christine, Hubert, Laurence, Larti, Farzaneh, Kahrizi, Kimia, Jobling, Rebekah, Agolini, Emanuele, Shaheen, Ranad, Zigler, Alban, Rouiller-Fabre, Virginie, Rozet, Jean-Michel, Picaud, Serge, Novelli, Antonio, Alameer, Seham, Najmabadi, Hossein, Cohn, Ronald, Munnich, Arnold, Barth, Magalie, Lugli, Licia, Alkuraya, Fowzan S, Blaser, Susan, Gashlan, Maha, Besmond, Claude, Darmon, Michèle, Masson, Justine

“…Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to…”
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Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability by Bertoli-Avella, Aida M, Garcia-Aznar, Jose M, Brandau, Oliver, Al-Hakami, Fahad, Yüksel, Zafer, Marais, Anett, Grüning, Nana-Maria, Abbasi Moheb, Lia, Paknia, Omid, Alshaikh, Nahla, Alameer, Seham, Marafi, Makia J, Al-Mulla, Fahd, Al-Sannaa, Nouriya, Rolfs, Arndt, Bauer, Peter

“…Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately…”
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Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia by Saleh, Mohammed M., Hamhom, Abdulrahim M., Al-Otaibi, Ali, AlGhamdi, Malak, Housawi, Yousef, Aljadhai, Yaser I., Alameer, Seham, Almannai, Mohammed, Jad, Lamyaa A., Alwadei, Ali H., Tabassum, Sadia, Alsaman, Abdulaziz, AlAsmari, Ali, Al Mutairi, Fuad, Althiyab, Hamad, Bashiri, Fahad A., AlHumaidi, Suzan, Alfadhel, Majid, Mink, Jonathan W., AlHashim, Aqeela, Faqeih, Eissa A., Kentab, Amal, Muddathir, H.H., Salih, M.A., Mushiba, Aziza M., Zada, A.P., Bamajboor, Mohammed S., Zameer, Sadique, AlBassam, Fahad, Mahmoud, Adel, Alnawfal, A.A., AlAmr, Mushari, Bawazir, Maryam, Al Rumayyan, Ahmed, Al-Twaijri, Waleed, Alrifai, Muhammed Talal, Al Hajjaj, Sumayah

“…Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study…”
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Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene by Ben-Omran, Tawfeg, Ali, Rehab, Almureikhi, Mariam, Alameer, Seham, Al-Saffar, Muna, Walsh, Christopher A., Felie, Jillian M., Teebi, Ahmad

“…Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse–Sakati syndrome (WSS)] is a rare autosomal…”
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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations (vol 143, pg 2911, 2020) by Diaz, Jorge, Gerard, Xavier, Emerit, Michel-Boris, Areias, Julie, Geny, David, Degardin, Julie, Simonutti, Manuel, Guerquin, Marie-Justine, Collin, Thibault, Viollet, Cécile, Billard, Jean-Marie, Metin, Christine, Hubert, Laurence, Larti, Farzaneh, Kahrizi, Kimia, Jobling, Rebekah, Agolini, Emanuele, Shaheen, Ranad, Zigler, Alban, Rouiller-Fabre, Virginie, Rozet, Jean-Michel, Picaud, Serge, Novelli, Antonio, Alameer, Seham, Najmabadi, Hossein, Cohn, Ronald, Munnich, Arnold, Barth, Magalie, Lugli, Licia, Alkuraya, Fowzan S., Blaser, Susan, Gashlan, Maha, Besmond, Claude, Le Darmon, Miche, Masson, Justine

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