Works by Bashamboo, A.

Results: 62
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19

    STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

    Published in:
    Molecular Human Reproduction, 2020, v. 26, n. 9, p. 665, doi. 10.1093/molehr/gaaa050
    By:
    • Jaillard, Sylvie;
    • McElreavy, Kenneth;
    • Robevska, Gorjana;
    • Akloul, Linda;
    • Ghieh, Farah;
    • Sreenivasan, Rajini;
    • Beaumont, Marion;
    • Bashamboo, Anu;
    • Bignon-Topalovic, Joelle;
    • Neyroud, Anne-Sophie;
    • Bell, Katrina;
    • Veron-Gastard, Elisabeth;
    • Launay, Erika;
    • van den Bergen, Jocelyn;
    • Nouyou, Bénédicte;
    • Vialard, François;
    • Belaud-Rotureau, Marc-Antoine;
    • Ayers, Katie L;
    • Odent, Sylvie;
    • Ravel, Célia
    Publication type:
    Article
    20
    21

    Monogenic Forms of DSD: An Update.

    Published in:
    Hormone Research in Paediatrics, 2023, v. 96, n. 2, p. 144, doi. 10.1159/000521381
    By:
    • McElreavey, Kenneth;
    • Bashamboo, Anu
    Publication type:
    Article
    22

    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1283, doi. 10.1038/ng.3122
    By:
    • Martin, Carol-Anne;
    • Klingseisen, Anna;
    • Bicknell, Louise S;
    • Leitch, Andrea;
    • Murray, Jennie E;
    • Hunt, David;
    • Ding, James;
    • Harley, Margaret E;
    • Heyn, Patricia;
    • Jackson, Andrew P;
    • Daire, Valérie Cormier;
    • Dollfus, Hélène;
    • Dupuis, Lucie;
    • Mendoza-Londono, Roberto;
    • Bashamboo, Anu;
    • McElreavey, Kenneth;
    • Kariminejad, Ariana;
    • Moore, Anthony T;
    • Saggar, Anand;
    • Schlechter, Catie
    Publication type:
    Article
    23
    24
    25
    26

    Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.900574
    By:
    • Zidoune, Housna;
    • Ladjouze, Asmahane;
    • Chellat-Rezgoune, Djalila;
    • Boukri, Asma;
    • Dib, Scheher Aman;
    • Nouri, Nassim;
    • Tebibel, Meryem;
    • Sifi, Karima;
    • Abadi, Noureddine;
    • Satta, Dalila;
    • Benelmadani, Yasmina;
    • Bignon-Topalovic, Joelle;
    • El-Zaiat-Munsch, Maeva;
    • Bashamboo, Anu;
    • McElreavey, Ken
    Publication type:
    Article
    27
    28

    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47162-2
    By:
    • Houzelstein, Denis;
    • Eozenou, Caroline;
    • Lagos, Carlos F.;
    • Elzaiat, Maëva;
    • Bignon-Topalovic, Joelle;
    • Gonzalez, Inma;
    • Laville, Vincent;
    • Schlick, Laurène;
    • Wankanit, Somboon;
    • Madon, Prochi;
    • Kirtane, Jyotsna;
    • Athalye, Arundhati;
    • Buonocore, Federica;
    • Bigou, Stéphanie;
    • Conway, Gerard S.;
    • Bohl, Delphine;
    • Achermann, John C.;
    • Bashamboo, Anu;
    • McElreavey, Ken
    Publication type:
    Article
    29
    30
    31
    32
    33

    Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sexdevelopment.

    Published in:
    European Journal of Endocrinology, 2014, v. 170, n. 5, p. 759, doi. 10.1530/EJE-13-0965
    By:
    • Tantawy, Sally;
    • Mazen, Inas;
    • Soliman, Hala;
    • Anwar, Ghada;
    • Atef, Abeer;
    • El-Gammal, Mona;
    • El-Kotoury, Ahmed;
    • Mekkawy, Mona;
    • Torky, Ahmad;
    • Rudolf, Agnes;
    • Schrumpf, Pamela;
    • Grüters, Annette;
    • Krude, Heiko;
    • Dumargne, Marie-Charlotte;
    • Astudillo, Rebekka;
    • Bashamboo, Anu;
    • Biebermann, Heike;
    • Köhler, Birgit
    Publication type:
    Article
    34
    35
    36
    37

    Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1851, doi. 10.1002/ajmg.a.37101
    By:
    • Hyon, Capucine;
    • Chantot‐Bastaraud, Sandra;
    • Harbuz, Radu;
    • Bhouri, Rakia;
    • Perrot, Nicolas;
    • Peycelon, Matthieu;
    • Sibony, Mathilde;
    • Rojo, Sandra;
    • Piguel, Xavier;
    • Bilan, Frederic;
    • Gilbert‐Dussardier, Brigitte;
    • Kitzis, Alain;
    • McElreavey, Ken;
    • Siffroi, Jean‐Pierre;
    • Bashamboo, Anu
    Publication type:
    Article
    38
    39
    40
    41
    42

    Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome.

    Published in:
    PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061824
    By:
    • Kalfa, Nicolas;
    • Philibert, Pascal;
    • Werner, Ralf;
    • Audran, Françoise;
    • Bashamboo, Anu;
    • Lehors, Hélène;
    • Haddad, Myriam;
    • Guys, Jean Michel;
    • Reynaud, Rachel;
    • Alessandrini, Pierre;
    • Wagner, Kathy;
    • Kurzenne, Jean Yves;
    • Bastiani, Florence;
    • Bréaud, Jean;
    • Valla, Jean Stéphane;
    • Lacombe, Gérard Morisson;
    • Orsini, Mattea;
    • Daures, Jean-Pierre;
    • Hiort, Olaf;
    • Paris, Françoise
    Publication type:
    Article
    43
    44

    Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion.

    Published in:
    PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034902
    By:
    • Eloualid, Abdelmajid;
    • Rhaissi, Houria;
    • Reguig, Ahmed;
    • Bounaceur, Safaa;
    • houate, Brahim El;
    • Abidi, Omar;
    • Charif, Majida;
    • Louanjli, Noureddine;
    • Chadli, Elbakkay;
    • Barakat, Abdelhamid;
    • Bashamboo, Anu;
    • McElreavey, Ken;
    • Rouba, Hassan
    Publication type:
    Article
    45
    46
    47
    48
    49
    50

    An ancient protein-DNA interaction underlying metazoan sex determination.

    Published in:
    Nature Structural & Molecular Biology, 2015, v. 22, n. 6, p. 442, doi. 10.1038/nsmb.3032
    By:
    • Murphy, Mark W;
    • Lee, John K;
    • Rojo, Sandra;
    • Gearhart, Micah D;
    • Kurahashi, Kayo;
    • Banerjee, Surajit;
    • Loeuille, Guy-André;
    • Bashamboo, Anu;
    • McElreavey, Kenneth;
    • Zarkower, David;
    • Aihara, Hideki;
    • Bardwell, Vivian J
    Publication type:
    Article