Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 9

Results: 46
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    High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2599, doi. 10.1002/ajmg.a.62892
    By:
    • Freire, Bruna Lucheze;
    • Homma, Thais Kataoka;
    • Lerario, Antônio Marcondes;
    • Seo, Go Hun;
    • Han, Heonjong;
    • de Assis Funari, Mariana Ferreira;
    • Gomes, Nathalia Lisboa;
    • Rosemberg, Carla;
    • Krepischi, Ana Cristina Victorino;
    • de Andrade Vasques, Gabriela;
    • Malaquias, Alexsandra Christianne;
    • de Lima Jorge, Alexander Augusto
    Publication type:
    Article
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    Detecting pathogenic deep intronic variants in Gitelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885
    By:
    • Rossanti, Rini;
    • Horinouchi, Tomoko;
    • Sakakibara, Nana;
    • Yamamura, Tomohiko;
    • Nagano, China;
    • Ishiko, Shinya;
    • Aoto, Yuya;
    • Kondo, Atsushi;
    • Nagai, Sadayuki;
    • Awano, Hiroyuki;
    • Nagase, Hiroaki;
    • Matsuo, Masafumi;
    • Iijima, Kazumoto;
    • Nozu, Kandai
    Publication type:
    Article
    10

    Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
    By:
    • Marbach, Felix;
    • Lipska‐Ziętkiewicz, Beata S.;
    • Knurowska, Agata;
    • Michaud, Vincent;
    • Margot, Henri;
    • Lespinasse, James;
    • Tran Mau Them, Frédéric;
    • Coubes, Christine;
    • Park, Joohyun;
    • Grosch, Sarah;
    • Roggia, Cristiana;
    • Grasshoff, Ute;
    • Kalsner, Louisa;
    • Denommé‐Pichon, Anne‐Sophie;
    • Afenjar, Alexandra;
    • Héron, Bénédicte;
    • Keren, Boris;
    • Caro, Pilar;
    • Schaaf, Christian P.
    Publication type:
    Article
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    Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2590, doi. 10.1002/ajmg.a.62880
    By:
    • Alecu, Julian Emanuel;
    • Ohmi, Yuhsuke;
    • Bhuiyan, Robiul H.;
    • Inamori, Kei‐ichiro;
    • Nitta, Takahiro;
    • Saffari, Afshin;
    • Jumo, Hellen;
    • Ziegler, Marvin;
    • de Gusmao, Claudio Melo;
    • Sharma, Nutan;
    • Ohno, Shiho;
    • Manabe, Noriyoshi;
    • Yamaguchi, Yoshiki;
    • Kambe, Mariko;
    • Furukawa, Keiko;
    • Sahin, Mustafa;
    • Inokuchi, Jin‐ichi;
    • Furakawa, Koichi;
    • Ebrahimi‐Fakhari, Darius
    Publication type:
    Article
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    Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2819, doi. 10.1002/ajmg.a.62883
    By:
    • Pacio‐Miguez, Marta;
    • Parrón‐Pajares, Manuel;
    • Gordon, Christopher T.;
    • Santos‐Simarro, Fernando;
    • Rodríguez Jiménez, Carmen;
    • Mena, Rocio;
    • Rueda Arenas, Inmaculada;
    • F. Montaño, Victoria Eugenia;
    • Fernández, María;
    • Solís, Mario;
    • del Pozo, Ángela;
    • Amiel, Jeanne;
    • García‐Miñaur, Sixto;
    • Palomares‐Bralo, María
    Publication type:
    Article
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    Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2796, doi. 10.1002/ajmg.a.62869
    By:
    • Paparella, Roberto;
    • Caroleo, Anna Maria;
    • Agolini, Emanuele;
    • Chillemi, Giovanni;
    • Miele, Evelina;
    • Pedace, Lucia;
    • Rinelli, Martina;
    • Pizzi, Simone;
    • Boccuto, Luigi;
    • Colafati, Giovanna Stefania;
    • Lodi, Mariachiara;
    • Cacchione, Antonella;
    • Carai, Andrea;
    • Digilio, Maria Cristina;
    • Tomà, Paolo;
    • Tartaglia, Marco;
    • Mastronuzzi, Angela
    Publication type:
    Article
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    Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2693, doi. 10.1002/ajmg.a.62856
    By:
    • Khan, Atta Ullah;
    • Khan, Ibrar;
    • Khan, Muhammad Ismail;
    • Latif, Muhammad;
    • Siddiqui, Muhammad Imran;
    • Khan, Shafi Ullah;
    • Htar, Thet Thet;
    • Wahid, Ghazala;
    • Ullah, Ikram;
    • Bibi, Fehmida;
    • Khan, Asifullah;
    • Naseer, Muhammad Imran;
    • Seo, Go Hun;
    • Jelani, Musharraf
    Publication type:
    Article
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    TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2652, doi. 10.1002/ajmg.a.62852
    By:
    • Musante, Luciana;
    • Faletra, Flavio;
    • Meier, Kolja;
    • Tomoum, Hoda;
    • Najarzadeh Torbati, Paria;
    • Blair, Edward;
    • North, Sally;
    • Gärtner, Jutta;
    • Diegmann, Susann;
    • Beiraghi Toosi, Mehran;
    • Ashrafzadeh, Farah;
    • Ghayoor Karimiani, Ehsan;
    • Murphy, David;
    • Murru, Flora Maria;
    • Zanus, Caterina;
    • Magnolato, Andrea;
    • La Bianca, Martina;
    • Feresin, Agnese;
    • Girotto, Giorgia;
    • Gasparini, Paolo
    Publication type:
    Article
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    Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2783, doi. 10.1002/ajmg.a.62848
    By:
    • Lok, Aishin;
    • Fernandez‐Garcia, Miguel A.;
    • Taylor, Robert W.;
    • French, Courtney;
    • MacFarland, Robert;
    • Bodi, Istvan;
    • Champion, Michael;
    • Josifova, Dragana;
    • Raymond, Frances Lucy;
    • Iuso, Arcangela;
    • Jungbluth, Heinz;
    • Milan, Anna;
    • Singh, Rahul R.
    Publication type:
    Article
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    Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
    By:
    • O'Grady, Lauren;
    • Schrier Vergano, Samantha A.;
    • Hoffman, Trevor L.;
    • Sarco, Dean;
    • Cherny, Sara;
    • Bryant, Emily;
    • Schultz‐Rogers, Laura;
    • Chung, Wendy K.;
    • Sacharow, Stephanie;
    • Immken, Ladonna L.;
    • Holder, Susan;
    • Blackwell, Rebecca R.;
    • Buchanan, Catherine;
    • Yusupov, Roman;
    • Lecoquierre, François;
    • Guerrot, Anne‐Marie;
    • Rodan, Lance;
    • de Vries, Bert B. A.;
    • Kamsteeg, Erik Jan;
    • Santos Simarro, Fernando
    Publication type:
    Article
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    MYH7 variants cause complex congenital heart disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2772, doi. 10.1002/ajmg.a.62766
    By:
    • Ritter, Alyssa;
    • Leonard, Jacqueline;
    • Gray, Christopher;
    • Izumi, Kosuke;
    • Levinson, Katharine;
    • Nair, Divya R.;
    • O'Connor, Matthew;
    • Rossano, Joseph;
    • Shankar, Venkat;
    • Chowns, Jessica;
    • Marzolf, Amy;
    • Owens, Anjali;
    • Ahrens‐Nicklas, Rebecca C.
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2525, doi. 10.1002/ajmg.a.62317
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2521, doi. 10.1002/ajmg.a.62314
    Publication type:
    Article
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