Works by AlSayed, Moeenaldeen

Results: 21
    1
    2

    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
    By:
    • Zanetti, Alessandra;
    • D'Avanzo, Francesca;
    • AlSayed, Moeenaldeen;
    • Brusius‐Facchin, Ana Carolina;
    • Chien, Yin‐Hsiu;
    • Giugliani, Roberto;
    • Izzo, Emanuela;
    • Kasper, David C.;
    • Lin, Hsiang‐Yu;
    • Lin, Shuan‐Pei;
    • Pollard, Laura;
    • Singh, Akashdeep;
    • Tonin, Rodolfo;
    • Wood, Tim;
    • Morrone, Amelia;
    • Tomanin, Rosella
    Publication type:
    Article
    3

    Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

    Published in:
    Human Mutation, 2019, v. 40, n. 11, p. 1985, doi. 10.1002/humu.23844
    By:
    • Suleiman, Jehan;
    • Riedhammer, Korbinian M.;
    • Jicinsky, Timothy;
    • Mundt, Melinda;
    • Werner, Laurie;
    • Gusic, Mirjana;
    • Burgemeister, Anna L.;
    • Alsaif, Hessa S.;
    • Abdulrahim, Maha;
    • Moghrabi, Nabil N;
    • Nicolas‐Jilwan, Manal;
    • AlSayed, Moeenaldeen;
    • Bi, Weimin;
    • Sampath, Srirangan;
    • Alkuraya, Fowzan S.;
    • El‐Hattab, Ayman W.
    Publication type:
    Article
    4
    5

    Optimising care and follow-up of adults with achondroplasia.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3
    By:
    • Fredwall, Svein;
    • Allum, Yana;
    • AlSayed, Moeenaldeen;
    • Alves, Inês;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valerie;
    • Guillen-Navarro, Encarna;
    • Irving, Melita;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.;
    • Wright, Michael
    Publication type:
    Article
    6
    7
    8

    Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

    Published in:
    2017
    By:
    • Maas, Roeltje R.;
    • Iwanicka‐Pronicka, Katarzyna;
    • Kalkan Ucar, Sema;
    • Alhaddad, Bader;
    • AlSayed, Moeenaldeen;
    • Al‐Owain, Mohammed A.;
    • Al‐Zaidan, Hamad I.;
    • Balasubramaniam, Shanti;
    • Barić, Ivo;
    • Bubshait, Dalal K.;
    • Burlina, Alberto;
    • Christodoulou, John;
    • Chung, Wendy K.;
    • Colombo, Roberto;
    • Darin, Niklas;
    • Freisinger, Peter;
    • Garcia Silva, Maria Teresa;
    • Grunewald, Stephanie;
    • Haack, Tobias B.;
    • van Hasselt, Peter M.
    Publication type:
    journal article
    9
    10

    SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 75, doi. 10.1002/jmd2.12218
    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
    Publication type:
    Article
    11

    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article
    12

    Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

    Published in:
    2017
    By:
    • Alfadhel, Majid;
    • Al Othaim, Ali;
    • Al Saif, Saif;
    • Al Mutairi, Fuad;
    • Alsayed, Moeenaldeen;
    • Rahbeeni, Zuhair;
    • Alzaidan, Hamad;
    • Alowain, Mohammed;
    • Al‐Hassnan, Zuhair;
    • Saeedi, Mohamad;
    • Aljohery, Saeed;
    • Alasmari, Ali;
    • Faqeih, Eissa;
    • Alwakeel, Mansour;
    • AlMashary, Maher;
    • Almohameed, Sulaiman;
    • Alzahrani, Mohammed;
    • Migdad, Abeer;
    • Al‐Dirbashi, Osama Y;
    • Rashed, Mohamed
    Publication type:
    journal article
    13
    14

    A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

    Published in:
    Cells (2073-4409), 2022, v. 11, n. 19, p. 3154, doi. 10.3390/cells11193154
    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
    Publication type:
    Article
    15

    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
    By:
    • Irving, Melita;
    • AlSayed, Moeenaldeen;
    • Arundel, Paul;
    • Baujat, Geneviève;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Hoyer-Kuhn, Heike;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.
    Publication type:
    Article
    16

    Real-world evidence in achondroplasia: considerations for a standardized data set.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
    By:
    • Alanay, Yasemin;
    • Mohnike, Klaus;
    • Nilsson, Ola;
    • Alves, Inês;
    • AlSayed, Moeenaldeen;
    • Appelman-Dijkstra, Natasha M.;
    • Baujat, Genevieve;
    • Ben-Omran, Tawfeg;
    • Breyer, Sandra;
    • Cormier-Daire, Valerie;
    • Gregersen, Pernille Axél;
    • Guillén-Navarro, Encarna;
    • Högler, Wolfgang;
    • Maghnie, Mohamad;
    • Mukherjee, Swati;
    • Cohen, Shelda;
    • Pimenta, Jeanne;
    • Selicorni, Angelo;
    • Semler, J. Oliver;
    • Sigaudy, Sabine
    Publication type:
    Article
    17

    Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03717-0
    By:
    • Fauroux, Brigitte;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Boon, Mieke;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Irving, Melita;
    • Kunkel, Philip;
    • Madureira, Núria;
    • Maghnie, Mohamad;
    • Milerad, Josef;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Nobili, Lino;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
    18

    Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
    By:
    • Guillen-Navarro, Encarna;
    • AlSayed, Moeenaldeen;
    • Alves, Inês;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Fredwall, Svein;
    • Irving, Melita;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Lausch, Ekkehart;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
    19
    20

    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

    Published in:
    Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8
    By:
    • Monies, Dorota;
    • Abouelhoda, Mohamed;
    • AlSayed, Moeenaldeen;
    • Alhassnan, Zuhair;
    • Alotaibi, Maha;
    • Kayyali, Husam;
    • Al-Owain, Mohammed;
    • Shah, Ayaz;
    • Rahbeeni, Zuhair;
    • Al-Muhaizea, Mohammad;
    • Alzaidan, Hamad;
    • Cupler, Edward;
    • Bohlega, Saeed;
    • Faqeih, Eissa;
    • Faden, Maha;
    • Alyounes, Banan;
    • Jaroudi, Dyala;
    • Goljan, Ewa;
    • Elbardisy, Hadeel;
    • Akilan, Asma
    Publication type:
    Article
    21

    European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

    Published in:
    Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
    By:
    • Fredwall, Svein;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Guillén-Navarro, Encarna;
    • Innig, Florian;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.;
    • Irving, Melita
    Publication type:
    Article