Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 12

Results: 42
    1
    2

    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. x, doi. 10.1002/ajmg.a.36870
    Publication type:
    Article
    3
    4
    5
    6

    Update from the 2013 international neurofibromatosis conference.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2969, doi. 10.1002/ajmg.a.36754
    By:
    • Plotkin, Scott R.;
    • Albers, Anne C.;
    • Babovic ‐ Vuksanovic, Dusica;
    • Blakeley, Jaishri O.;
    • Breakefield, Xandra O.;
    • Dunn, Courtney M.;
    • Evans, D. Gareth;
    • Fisher, Michael J.;
    • Friedman, Jan M.;
    • Giovannini, Marco;
    • Gutmann, David H.;
    • Kalamarides, Michel;
    • McClatchey, Andrea I.;
    • MessiaEN, Ludwine;
    • Morrison, HelEN;
    • Parkinson, David B.;
    • Stemmer ‐ Rachamimov, Anat O.;
    • Van Raamsdonk, Catherine D.;
    • Riccardi, VincENt M.;
    • Rosser, TENa
    Publication type:
    Article
    7
    8

    Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3027, doi. 10.1002/ajmg.a.36751
    By:
    • ThevENon, JuliEN;
    • Monnier, Nicole;
    • Callier, Patrick;
    • Dieterich, Klaus;
    • Francoise, Michel;
    • Montgomery, Tara;
    • Kjaergaard, Susanne;
    • Neas, Katherine;
    • Dixon, Joanne;
    • Dahm, Thomas Lee;
    • Huet, Frédéric;
    • Ragon, ClémENce;
    • Mosca ‐ Boidron, Anne ‐ Laure;
    • Marle, Nathalie;
    • Duplomb, LaurENce;
    • Aubriot ‐ Lorton, Marie ‐ Hélène;
    • Mugneret, Francine;
    • Vokes, Steve A.;
    • Tucker, Haley W.;
    • Lunardi, Joël
    Publication type:
    Article
    9
    10
    11
    12
    13
    14
    15

    Early manifestations of BPAN in a pediatric patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3095, doi. 10.1002/ajmg.a.36779
    By:
    • Okamoto, Nobuhiko;
    • Ikeda, Tae;
    • Hasegawa, Tatsuji;
    • Yamamoto, Yuto;
    • Kawato, Kazumi;
    • Komoto, Tomohiro;
    • Imoto, Issei
    Publication type:
    Article
    16
    17
    18
    19
    20

    Periventricular nodular heterotopia in Smith-Magenis syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
    By:
    • Capra, Valeria;
    • Biancheri, Roberta;
    • Morana, Giovanni;
    • Striano, Pasquale;
    • Novara, Francesca;
    • Ferrero, Giovanni Battista;
    • Boeri, Luca;
    • Celle, Maria ElENa;
    • Mancardi, Maria Margherita;
    • Zuffardi, Orsetta;
    • Parrini, ElENa;
    • Guerrini, RENzo
    Publication type:
    Article
    21
    22

    Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3154, doi. 10.1002/ajmg.a.36746
    By:
    • Alfei, Enrico;
    • Raviglione, Federico;
    • Franceschetti, Silvana;
    • D'Arrigo, Stefano;
    • Milani, Donatella;
    • Selicorni, Angelo;
    • Riva, Daria;
    • Zuffardi, Orsetta;
    • Pantaleoni, Chiara;
    • Binelli, Simona
    Publication type:
    Article
    23
    24
    25
    26

    3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3061, doi. 10.1002/ajmg.a.36761
    By:
    • Dikow, Nicola;
    • Maas, Bianca;
    • Karch, Stephanie;
    • Granzow, Martin;
    • JanssEN, Johannes W.G.;
    • Jauch, Anna;
    • Hinderhofer, Katrin;
    • Sutter, Christian;
    • Schubert ‐ Bast, Susanne;
    • Anderlid, Britt Marie;
    • Dallapiccola, Bruno;
    • Van der Aa, Nathalie;
    • Moog, Ute
    Publication type:
    Article
    27
    28
    29
    30
    31
    32
    33
    34

    Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2979, doi. 10.1002/ajmg.a.36780
    By:
    • Morris, Joan K.;
    • Garne, Ester;
    • Wellesley, Diana;
    • Addor, Marie ‐ Claude;
    • Arriola, Larraitz;
    • Barisic, Ingeborg;
    • Beres, Judit;
    • Bianchi, Fabrizio;
    • Budd, Judith;
    • Dias, Carlos Matias;
    • Gatt, Miriam;
    • Klungsoyr, Kari;
    • Khoshnood, Babak;
    • Latos ‐ BielENska, Anna;
    • Mullaney, Carmel;
    • NelEN, Vera;
    • Neville, Amanda J.;
    • O'Mahony, Mary;
    • Queisser ‐ Luft, Annette;
    • Randrianaivo, Hanitra
    Publication type:
    Article
    35
    36
    37

    Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3100, doi. 10.1002/ajmg.a.36783
    By:
    • Baban, Anwar;
    • Postma, Alex VincENt;
    • Marini, Monica;
    • Trocchio, Gianluca;
    • Santilli, Antonella;
    • Pelegrini, Monica;
    • Sirleto, Pietro;
    • Lerone, Margherita;
    • Albanese, Sonia Bernadette;
    • Barnett, Phil;
    • Boogerd, Cornelis Job;
    • Dallapiccola, Bruno;
    • Digilio, Maria Cristina;
    • Ravazzolo, Roberto;
    • Pongiglione, Giacomo
    Publication type:
    Article
    38
    39
    40
    41

    Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3010, doi. 10.1002/ajmg.a.36805
    By:
    • Castori, Marco;
    • Dordoni, Chiara;
    • Valiante, Michele;
    • Sperduti, Isabella;
    • Ritelli, Marco;
    • Morlino, Silvia;
    • Chiarelli, Nicola;
    • Celletti, Claudia;
    • VENturini, Marina;
    • Camerota, Filippo;
    • Calzavara ‐ Pinton, Piergiacomo;
    • Grammatico, Paola;
    • Colombi, Marina
    Publication type:
    Article
    42