Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 12

Results: 65
    1

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2541, doi. 10.1002/ajmg.a.61010
    Publication type:
    Article
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    Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2554, doi. 10.1002/ajmg.a.60677
    By:
    • Rodan, Lance H.;
    • Anyane‐Yeboa, Kwame;
    • Chong, Karen;
    • Klein Wassink‐Ruiter, Jolien S.;
    • Wilson, Ashley;
    • Smith, Lacey;
    • Kothare, Sanjeev V.;
    • Rajabi, Farrah;
    • Blaser, Susan;
    • Ni, Min;
    • DeBerardinis, Ralph J.;
    • Poduri, Annapurna;
    • Berry, Gerard T.
    Publication type:
    Article
    10

    Patients with SATB2‐associated syndrome exhibiting multiple odontomas.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2614, doi. 10.1002/ajmg.a.40670
    By:
    • Kikuiri, Takashi;
    • Mishima, Hiroyuki;
    • Imura, Hideto;
    • Suzuki, Satoshi;
    • Matsuzawa, Yusuke;
    • Nakamura, Takashi;
    • Fukumoto, Satoshi;
    • Yoshimura, Yoshitaka;
    • Watanabe, Satoshi;
    • Kinoshita, Akira;
    • Yamada, Takahiro;
    • Shindoh, Masanobu;
    • Sugita, Yoshihiko;
    • Maeda, Hatsuhiko;
    • Yawaka, Yasutaka;
    • Mikoya, Tadashi;
    • Natsume, Nagato;
    • Yoshiura, Koh‐ichiro
    Publication type:
    Article
    11

    Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2695, doi. 10.1002/ajmg.a.40668
    By:
    • Wormser, Ohad;
    • Gradstein, Libe;
    • Kadar, Einat;
    • Yogev, Yuval;
    • Perez, Yonatan;
    • Mashkit, Elena;
    • Elbedour, Khalil;
    • Drabkin, Max;
    • Markus, Barak;
    • Kadir, Rotem;
    • Halperin, Daniel;
    • Khalaila, Soltan;
    • Levy, Jaime;
    • Lifshitz, Tova;
    • Manor, Esther;
    • Birk, Ohad S.
    Publication type:
    Article
    12

    The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2740, doi. 10.1002/ajmg.a.40662
    By:
    • Lehalle, Daphné;
    • Altunoglu, Umut;
    • Bruel, Ange‐Line;
    • Assoum, Mirna;
    • Duffourd, Yannis;
    • Masurel, Alice;
    • Baujat, Geneviève;
    • Bessieres, Bettina;
    • Captier, Guillaume;
    • Edery, Patrick;
    • Elçioğlu, Nursel H.;
    • Geneviève, David;
    • Goldenberg, Alice;
    • Héron, Delphine;
    • Grotto, Sarah;
    • Marlin, Sandrine;
    • Putoux, Audrey;
    • Rossi, Massimiliano;
    • Saugier‐Veber, Pascale;
    • Triau, Stéphane
    Publication type:
    Article
    13

    Schaaf‐Yang syndrome overview: Report of 78 individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650
    By:
    • McCarthy, John;
    • Lupo, Philip J.;
    • Kovar, Erin;
    • Rech, Megan;
    • Bostwick, Bret;
    • Scott, Daryl;
    • Kraft, Katerina;
    • Roscioli, Tony;
    • Charrow, Joel;
    • Schrier Vergano, Samantha A.;
    • Lose, Edward;
    • Smiegel, Robert;
    • Lacassie, Yves;
    • Schaaf, Christian P.
    Publication type:
    Article
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    Modeling age‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2604, doi. 10.1002/ajmg.a.40659
    By:
    • Čaplovičová, Martina;
    • Moslerová, Veronika;
    • Dupej, Ján;
    • Macek, Milan;
    • Zemková, Dana;
    • Hoffmannová, Eva;
    • Havlovicová, Markéta;
    • Velemínská, Jana
    Publication type:
    Article
    19

    A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2595, doi. 10.1002/ajmg.a.40642
    By:
    • Facchina, Giulia;
    • Amaddeo, Alessandro;
    • Baujat, Geneviève;
    • Breton, Sylvain;
    • Michot, Caroline;
    • Thierry, Briac;
    • James, Syril;
    • de Saint Denis, Timothé;
    • Zerah, Michel;
    • Khirani, Sonia;
    • Cormier‐Daire, Valerie;
    • Fauroux, Brigitte
    Publication type:
    Article
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    Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2710, doi. 10.1002/ajmg.a.40644
    By:
    • Blackburn, Patrick R.;
    • Chacon‐Camacho, Oscar F.;
    • Ortiz‐González, Xilma R.;
    • Reyes, Mariana;
    • Lopez‐Uriarte, Graciela A.;
    • Zarei, Shabnam;
    • Bhoj, Elizabeth J.;
    • Perez‐Solorzano, Sofia;
    • Vaubel, Rachael A.;
    • Murphree, Marine I.;
    • Nava, Jessica;
    • Cortes‐Gonzalez, Vianney;
    • Parisi, Joseph E.;
    • Villanueva‐Mendoza, Cristina;
    • Tirado‐Torres, Iris G.;
    • Li, Dong;
    • Klee, Eric W.;
    • Pichurin, Pavel N.;
    • Zenteno, Juan C.
    Publication type:
    Article
    28

    First reported adult patient with TARP syndrome: A case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2915, doi. 10.1002/ajmg.a.40638
    By:
    • Højland, Allan T.;
    • Lolas, Ihab;
    • Okkels, Henrik;
    • Lautrup, Charlotte K.;
    • Diness, Birgitte R.;
    • Petersen, Michael B.;
    • Nielsen, Irene K.
    Publication type:
    Article
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    Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2867, doi. 10.1002/ajmg.a.40635
    By:
    • Pezzani, Lidia;
    • Marchetti, Daniela;
    • Cereda, Anna;
    • Caffi, Lorella G.;
    • Manara, Ornella;
    • Mamoli, Daniela;
    • Pezzoli, Laura;
    • Lincesso, Anna R.;
    • Perego, Loredana;
    • Pellicioli, Isabella;
    • Bonanomi, Ezio;
    • Salvoni, Laura;
    • Iascone, Maria
    Publication type:
    Article
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    Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2924, doi. 10.1002/ajmg.a.40632
    By:
    • Rauen, Katherine A.;
    • Schoyer, Lisa;
    • Schill, Lisa;
    • Stronach, Beth;
    • Albeck, John;
    • Andresen, Brage S.;
    • Cavé, Hélène;
    • Ellis, Michelle;
    • Fruchtman, Steven M.;
    • Gelb, Bruce D.;
    • Gibson, Christopher C.;
    • Gripp, Karen;
    • Hefner, Erin;
    • Huang, William Y. C.;
    • Itkin, Maxim;
    • Kerr, Bronwyn;
    • Linardic, Corinne M.;
    • McMahon, Martin;
    • Oberlander, Beverly;
    • Perlstein, Ethan
    Publication type:
    Article
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    Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2768, doi. 10.1002/ajmg.a.40628
    By:
    • Gartner, Valerie;
    • Markello, Thomas C.;
    • Macnamara, Ellen;
    • De Biase, Andrea;
    • Thurm, Audrey;
    • Joseph, Lisa;
    • Beggs, Alan;
    • Schmahmann, Jeremy D.;
    • Berry, Gerard T.;
    • Anselm, Irina;
    • Boslet, Emma;
    • Tifft, Cynthia J.;
    • Gahl, William A.;
    • Lee, Paul R.
    Publication type:
    Article
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    PRICKLE1‐related early onset epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2841, doi. 10.1002/ajmg.a.40625
    By:
    • Mastrangelo, Mario;
    • Tolve, Manuela;
    • Martinelli, Martina;
    • Di Noia, Sofia P.;
    • Parrini, Elena;
    • Leuzzi, Vincenzo
    Publication type:
    Article
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    Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2829, doi. 10.1002/ajmg.a.40533
    By:
    • Datkhaeva, Ilina;
    • Arboleda, Valerie A.;
    • Senaratne, T. Niroshi;
    • Nikpour, Gelareh;
    • Meyerson, Cherise;
    • Geng, Yipeng;
    • Afshar, Yalda;
    • Scibetta, Emily;
    • Goldstein, Jeffrey;
    • Quintero‐Rivera, Fabiola;
    • Crandall, Barbara F.;
    • Grody, Wayne W.;
    • Deignan, Joshua;
    • Janzen, Carla
    Publication type:
    Article
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    De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2623, doi. 10.1002/ajmg.a.40493
    By:
    • Wojcik, Monica H.;
    • Okada, Kyoko;
    • Prabhu, Sanjay P.;
    • Nowakowski, Dan W.;
    • Ramsey, Keri;
    • Balak, Chris;
    • Rangasamy, Sampath;
    • Brownstein, Catherine A.;
    • Schmitz‐Abe, Klaus;
    • Cohen, Julie S.;
    • Fatemi, Ali;
    • Shi, Jiahai;
    • Grant, Ellen P.;
    • Narayanan, Vinodh;
    • Ho, Hsin‐Yi Henry;
    • Agrawal, Pankaj B.
    Publication type:
    Article
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    Copy number variants in hypoplastic right heart syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2760, doi. 10.1002/ajmg.a.40527
    By:
    • Giannakou, Andreas;
    • Sicko, Robert J.;
    • Kay, Denise M.;
    • Zhang, Wei;
    • Romitti, Paul A.;
    • Caggana, Michele;
    • Shaw, Gary M.;
    • Jelliffe‐Pawlowski, Laura L.;
    • Mills, James L.
    Publication type:
    Article
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