Works matching Robert syndrome


Results: 148
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    3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

    Published in:
    Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
    By:
    • Dupont, Celine;
    • Bucourt, Martine;
    • Guimiot, Fabien;
    • Kraoua, Lilia;
    • Smiljkovski, Daniel;
    • Le Tessier, Dominique;
    • Lebugle, Camille;
    • Gerard, Benedicte;
    • Spaggiari, Emmanuel;
    • Bourdoncle, Pierre;
    • Tabet, Anne-Claude;
    • Benzacken, Brigitte;
    • Dupont, Jean-Michel
    Publication type:
    Article
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    Expanding the mutation and clinical spectrum of Roberts syndrome.

    Published in:
    Congenital Anomalies, 2016, v. 56, n. 4, p. 154, doi. 10.1111/cga.12151
    By:
    • Afifi, Hanan H.;
    • Abdel-Salam, Ghada M.H.;
    • Eid, Maha M.;
    • Tosson, Angie M.S.;
    • Shousha, Wafaa Gh.;
    • Abdel Azeem, Amira A.;
    • Farag, Mona K.;
    • Mehrez, Mennat I.;
    • Gaber, Khaled R.
    Publication type:
    Article
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    Roberts syndrome with tetraphocomelia: A case report and literature review.

    Published in:
    2022
    By:
    • Okpala, Boniface Chukwuneme;
    • Echendu, Sylvia Tochukwu;
    • Ikechebelu, Joseph Ifeanyichukwu;
    • Eleje, George Uchenna;
    • Joe-Ikechebelu, Ngozi Nneka;
    • Nwajiaku, Louis Anayo;
    • Nwachukwu, Cyril Emeka;
    • Igbodike, Emeka Philip;
    • Nnoruka, Mark Chinedu;
    • Okpala, Augusta Nkiruka;
    • Ofojebe, Chukwuemeka Jude;
    • Umeononihu, Osita Samuel
    Publication type:
    Case Study
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    Roberts syndrome with tetraphocomelia: A case report and literature review.

    Published in:
    2022
    By:
    • Okpala, Boniface Chukwuneme;
    • Echendu, Sylvia Tochukwu;
    • Ikechebelu, Joseph Ifeanyichukwu;
    • Eleje, George Uchenna;
    • Joe-Ikechebelu, Ngozi Nneka;
    • Nwajiaku, Louis Anayo;
    • Nwachukwu, Cyril Emeka;
    • Igbodike, Emeka Philip;
    • Nnoruka, Mark Chinedu;
    • Okpala, Augusta Nkiruka;
    • Ofojebe, Chukwuemeka Jude;
    • Umeononihu, Osita Samuel
    Publication type:
    Case Study
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    PRENATAL DIAGNOSIS OF ROBERTS SYNDROME: TWO NEW CASES.

    Published in:
    Prenatal Diagnosis, 1996, v. 16, n. 2, p. 125, doi. 10.1002/(SICI)1097-0223(199602)16:2<125::AID-PD822>3.0.CO;2-S
    By:
    • BENZACKEN, B.;
    • SAVARY, J. B.;
    • MANOUVRIER, S.;
    • BUCOURT, M.;
    • GONZALES, J.
    Publication type:
    Article
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    Cohesinopathies of a Feather Flock Together.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004036
    By:
    • Skibbens, Robert V.;
    • Colquhoun, Jennifer M.;
    • Green, Megan J.;
    • Molnar, Cody A.;
    • Sin, Danielle N.;
    • Sullivan, Brian J.;
    • Tanzosh, Eden E.
    Publication type:
    Article
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    FROM THE EDITOR'S DESK.

    Published in:
    Indian Obstetrics & Gynaecology, 2013, v. 3, n. 3, p. 5
    By:
    • Sharma, J. B.
    Publication type:
    Article
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    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116
    By:
    • Gordillo, Miriam;
    • Vega, Hugo;
    • Trainer, Alison H.;
    • Hou, Fajian;
    • Sakai, Norio;
    • Luque, Ricardo;
    • Kayserili, Hülya;
    • Basaran, Seher;
    • Skovby, Flemming;
    • Hennekam, Raoul C. M.;
    • Uzielli, Maria L. Giovannucci;
    • Schnur, Rhonda E.;
    • Manouvrier, Sylvie;
    • Chang, Susan;
    • Blair, Edward;
    • Hurst, Jane A.;
    • Forzano, Francesca;
    • Meins, Moritz;
    • Simola, Kalle O.J.;
    • Raas-Rothschild, Annick
    Publication type:
    Article
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    The Roberts syndrome.

    Published in:
    Clinical Genetics, 1974, v. 5, n. 1, p. 1, doi. 10.1111/j.1399-0004.1974.tb01652.x
    By:
    • Freeman, Mahlon V. R.;
    • Williams, Derek W.;
    • Schimke, R. Neil;
    • Temtamy, Samia A.;
    • Vachier, Eduardo;
    • German, James
    Publication type:
    Article
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    A Child with Roberts Syndrome.

    Published in:
    Journal of the College of Physicians & Surgeons Pakistan, 2011, v. 21, n. 7, p. 431
    Publication type:
    Article