Found: 14

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  • Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2209, doi. 10.1002/ajmg.a.62752
    By:
    • Tayeh, Marwan K.;
    • DeVaul, Janean;
    • LeSueur, Kristin;
    • Yang, Chen;
    • Bedoyan, Jirair K.;
    • Thomas, Peedikayil;
    • Hannibal, Mark C.;
    • Innis, Jeffrey W.
    Publication type:
    Article

  • Recurrent Duplications of 17q12 Associated with Variable Phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3038, doi. 10.1002/ajmg.a.37351
    By:
    • Mitchell, Elyse;
    • Douglas, Andrew;
    • Kjaegaard, Susanne;
    • Callewaert, Bert;
    • Vanlander, Arnaud;
    • Janssens, Sandra;
    • Yuen, Amy Lawson;
    • Skinner, Cindy;
    • Failla, Pinella;
    • Alberti, Antonino;
    • Avola, Emanuela;
    • Fichera, Marco;
    • Kibaek, Maria;
    • Digilio, Maria C.;
    • Hannibal, Mark C.;
    • den Hollander, Nicolette S.;
    • Bizzarri, Veronica;
    • Renieri, Alessandra;
    • Mencarelli, Maria Antonietta;
    • Fitzgerald, Tomas
    Publication type:
    Article

  • Investigation of NRXN1 deletions: Clinical and molecular characterization.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 717, doi. 10.1002/ajmg.a.35780
    By:
    • Dabell, Mindy Preston;
    • Rosenfeld, Jill A.;
    • Bader, Patricia;
    • Escobar, Luis F.;
    • El‐Khechen, Dima;
    • Vallee, Stephanie E.;
    • Dinulos, Mary Beth Palko;
    • Curry, Cynthia;
    • Fisher, Jamie;
    • Tervo, Raymond;
    • Hannibal, Mark C.;
    • Siefkas, Kiana;
    • Wyatt, Philip R.;
    • Hughes, Lauren;
    • Smith, Rosemarie;
    • Ellingwood, Sara;
    • Lacassie, Yves;
    • Stroud, Tracy;
    • Farrell, Sandra A.;
    • Sanchez‐Lara, Pedro A.
    Publication type:
    Article

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
    By:
    • Ng, Sarah B.;
    • Bigham, Abigail W.;
    • Buckingham, Kati J.;
    • Hannibal, Mark C.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Beck, Anita E.;
    • Tabor, Holly K.;
    • Cooper, Gregory M.;
    • Mefford, Heather C.;
    • Lee, Choli;
    • Turner, Emily H.;
    • Smith, Joshua D.;
    • Rieder, Mark J.;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Naomichi;
    • Ohta, Tohru;
    • Niikawa, Norio;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.
    Publication type:
    Article

  • Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

    Published in:
    Nature Genetics, 2005, v. 37, n. 10, p. 1044, doi. 10.1038/ng1649
    By:
    • Kuhlenbäumer, Gregor;
    • Hannibal, Mark C.;
    • Nelis, Eva;
    • Schirmacher, Anja;
    • Verpoorten, Nathalie;
    • Meuleman, Jan;
    • Watts, Giles D. J.;
    • de Vriendt, Els;
    • Young, Peter;
    • Stögbauer, Florian;
    • Halfter, Hartmut;
    • Irobi, Joy;
    • Goossens, Dirk;
    • Del-Favero, Jurgen;
    • Betz, Benjamin G.;
    • Hyun Hor;
    • Kurlemann, Gert;
    • Bird, Thomas D.;
    • Airaksinen, Ella;
    • Mononen, Tarja
    Publication type:
    Article

  • Alternative Splicing of sept9a and sept9b in Zebrafish Produces Multiple mRNA Transcripts Expressed Throughout Development.

    Published in:
    PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010712
    By:
    • Landsverk, Megan L.;
    • Weiser, Douglas C.;
    • Hannibal, Mark C.;
    • Kimelman, David
    Publication type:
    Article

  • TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.

    Published in:
    Cardiovascular Research, 2010, v. 88, n. 3, p. 520, doi. 10.1093/cvr/cvq230
    By:
    • Inamoto, Sakiko;
    • Kwartler, Callie S.;
    • Lafont, Andrea L.;
    • Yao Yun Liang;
    • Fadulu, Van Tran;
    • Duraisamy, Senthil;
    • Willing, Marcia;
    • Estrera, Anthony;
    • Safi, Hazim;
    • Hannibal, Mark C.;
    • Carey, John;
    • Wiktorowicz, John;
    • Tan, Filemon K.;
    • Xin-Hua Feng;
    • Pannu, Hariyadarshi;
    • Milewicz, Dianna M.
    Publication type:
    Article

  • Aortic Root Dilatation is a Rare Complication of Noonan Syndrome.

    Published in:
    Pediatric Cardiology, 2006, v. 27, n. 4, p. 478, doi. 10.1007/s00246-006-1210-x
    By:
    • Power, Patricia D.;
    • Lewin, Mark B.;
    • Hannibal, Mark C.;
    • Glass, Ian A.
    Publication type:
    Article

  • A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 267, doi. 10.1007/s10875-019-00731-3
    By:
    • Novice, Taylor;
    • Kariminia, Amina;
    • Del Bel, Kate L.;
    • Lu, Henry;
    • Sharma, Mehul;
    • Lim, Chinten J.;
    • Read, Jay;
    • Lugt, Mark Vander;
    • Hannibal, Mark C.;
    • O'Dwyer, David;
    • Hosler, Mirie;
    • Scharnitz, Thomas;
    • Rizzo, Jason M;
    • Zacur, Jennifer;
    • Priatel, John;
    • Abdossamadi, Sayeh;
    • Bohm, Alexandra;
    • Junker, Anne;
    • Turvey, Stuart E.;
    • Schultz, Kirk R.
    Publication type:
    Article

  • Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

    Published in:
    Annals of Neurology, 2007, v. 62, n. 4, p. 390, doi. 10.1002/ana.21213
    By:
    • Baker, Naomi L.;
    • Mörgelin, Matthias;
    • Pace, Rishika A.;
    • Peat, Rachel A.;
    • Adams, Naomi E.;
    • Gardner, R. J. McKinlay;
    • Rowland, Lewis P.;
    • Miller, Geoffrey;
    • De Jonghe, Peter;
    • Ceulemans, Berten;
    • Hannibal, Mark C.;
    • Edwards, Matthew;
    • Thompson, Elizabeth M.;
    • Jacobson, Richard;
    • Quinlivan, Ros C. M.;
    • Aftimos, Salim;
    • Kornberg, Andrew J.;
    • North, Kathryn N.;
    • Bateman, John F.;
    • Lamandé, Shireen R.
    Publication type:
    Article

  • De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 3, p. 597, doi. 10.1093/hmg/ddv499
    By:
    • Srivastava, Anshika;
    • Ritesh, K. C.;
    • Yao-Chang Tsan;
    • Liao, Rosy;
    • Fengyun Su;
    • Xuhong Cao;
    • Hannibal, Mark C.;
    • Keegan, Catherine E.;
    • Chinnaiyan, Arul M.;
    • Martin, Donna M.;
    • Bielas, Stephanie L.
    Publication type:
    Article

  • Spectrum of MLL2 ( ALR) mutations in 110 cases of Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1511, doi. 10.1002/ajmg.a.34074
    By:
    • Hannibal, Mark C.;
    • Buckingham, Kati J.;
    • Ng, Sarah B.;
    • Ming, Jeffrey E.;
    • Beck, Anita E.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Bigham, Abigail W.;
    • Tabor, Holly K.;
    • Mefford, Heather C.;
    • Cook, Joseph;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Tadashi;
    • Matsumoto, Naomichi;
    • Miyake, Noriko;
    • Tonoki, Hidefumi;
    • Naritomi, Kenji;
    • Kaname, Tadashi;
    • Nagai, Toshiro;
    • Ohashi, Hirofumi
    Publication type:
    Article

  • Recurrent HERV- H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1415, doi. 10.1002/humu.22384
    By:
    • Shuvarikov, Andrey;
    • Campbell, Ian M.;
    • Dittwald, Piotr;
    • Neill, Nicholas J.;
    • Bialer, Martin G.;
    • Moore, Christine;
    • Wheeler, Patricia G.;
    • Wallace, Stephanie E.;
    • Hannibal, Mark C.;
    • Murray, Michael F.;
    • Giovanni, Monica A.;
    • Terespolsky, Deborah;
    • Sodhi, Sandi;
    • Cassina, Matteo;
    • Viskochil, David;
    • Moghaddam, Billur;
    • Herman, Kristin;
    • Brown, Chester W.;
    • Beck, Christine R.;
    • Gambin, Anna
    Publication type:
    Article

  • Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 7, p. 1200, doi. 10.1093/hmg/ddp014
    By:
    • Landsverk, Megan L.;
    • Ruzzo, Elizabeth K.;
    • Mefford, Heather C.;
    • Buysse, Karen;
    • Buchan, Jillian G.;
    • Eichler, Evan E.;
    • Petty, Elizabeth M.;
    • Peterson, Esther A.;
    • Knutzen, Dana M.;
    • Barnett, Karen;
    • Farlow, Martin R.;
    • Caress, Judy;
    • Parry, Gareth J.;
    • Quan, Dianna;
    • Gardner, Kathy L.;
    • Hong, Ming;
    • Simmons, Zachary;
    • Bird, Thomas D.;
    • Chance, Phillip F.;
    • Hannibal, Mark C.
    Publication type:
    Article