Found: 10

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  • Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.

    Published in:
    Genes, 2021, v. 12, n. 1, p. 92, doi. 10.3390/genes12010092
    By:
    • Rebolledo-Jaramillo, Boris;
    • Obregon, Maria Gabriela;
    • Huckstadt, Victoria;
    • Gomez, Abel;
    • Repetto, Gabriela M.
    Publication type:
    Article

  • Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63469
    By:
    • Ramos‐Mejía, Rosario;
    • Heath, Karen E.;
    • Modamio‐Høybjør, Silvia;
    • Huckstadt, Victoria;
    • Calcagni, Julián;
    • Remondino, Rodrigo;
    • Fano, Virginia
    Publication type:
    Article

  • Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2240, doi. 10.1002/ajmg.a.63227
    By:
    • del Pino, Mariana;
    • Huckstadt, Victoria;
    • Diaz‐Gonzalez, Francisca;
    • Obregon, Maria Gabriela;
    • Heath, Karen E.;
    • Fano, Virginia
    Publication type:
    Article

  • Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2505, doi. 10.1002/ajmg.a.62862
    By:
    • Chinton, Josefina;
    • Huckstadt, Victoria;
    • Foncuberta, Maria Eugenia;
    • Perez, Maria Mercedes;
    • Bonetto, Mara Cecilia;
    • Gravina, Luis Pablo;
    • Obregon, María Gabriela
    Publication type:
    Article

  • Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1256, doi. 10.1002/ajmg.a.62089
    By:
    • Huckstadt, Victoria;
    • Chinton, Josefina;
    • Gomez, Abel;
    • Obregon, María Gabriela;
    • Gravina, Luis Pablo
    Publication type:
    Article

  • Rubinstein–Taybi syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2939, doi. 10.1002/ajmg.a.61888
    By:
    • Tekendo‐Ngongang, Cedrik;
    • Owosela, Babajide;
    • Fleischer, Nicole;
    • Addissie, Yonit A.;
    • Malonga, Bryan;
    • Badoe, Ebenezer;
    • Gupta, Neerja;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Ashaat, Engy A.;
    • Hussen, Dalia Farouk;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Hon‐Yin Chung, Brian;
    • Fung, Jasmine L. F.;
    • Moretti‐Ferreira, Danilo;
    • Batista, Letícia Cassimiro;
    • Lotz‐Esquivel, Stephanie;
    • Saborio‐Rocafort, Manuel;
    • Badilla‐Porras, Ramses
    Publication type:
    Article

  • Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
    By:
    • Suter, Aude‐Annick;
    • Santos‐Simarro, Fernando;
    • Toerring, Pernille Mathiesen;
    • Abad Perez, Angela;
    • Ramos‐Mejia, Rosario;
    • Heath, Karen E.;
    • Huckstadt, Victoria;
    • Parrón‐Pajares, Manuel;
    • Mensah, Martin Atta;
    • Hülsemann, Wiebke;
    • Holtgrewe, Manuel;
    • Mundlos, Stefan;
    • Kornak, Uwe;
    • Bartsch, Oliver;
    • Ehmke, Nadja
    Publication type:
    Article

  • Providing more evidence on LZTR1 variants in Noonan syndrome patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 409, doi. 10.1002/ajmg.a.61445
    By:
    • Chinton, Josefina;
    • Huckstadt, Victoria;
    • Mucciolo, Mafalda;
    • Lepri, Francesca;
    • Novelli, Antonio;
    • Gravina, Luis Pablo;
    • Obregon, María Gabriela
    Publication type:
    Article

  • Cover Image, Volume 176A, Number 5, May 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • de Souza, Deise Helena;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Gill, Ashleigh D.;
    • Boyle, Alec P.;
    • Hu, Tommy;
    • Addissie, Yonit A.;
    • Mok, Gary T. K.;
    • Tekendo‐Ngongang, Cedrik;
    • Fieggen, Karen;
    • Prijoles, Eloise J.;
    • Tanpaiboon, Pranoot;
    • Honey, Engela;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Jones, Kelly L.
    Publication type:
    Article

  • Williams–Beuren syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • de Souza, Deise Helena;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Gill, Ashleigh D.;
    • Boyle, Alec P.;
    • Hu, Tommy;
    • Addissie, Yonit A.;
    • Mok, Gary T. K.;
    • Tekendo‐Ngongang, Cedrik;
    • Fieggen, Karen;
    • Prijoles, Eloise J.;
    • Tanpaiboon, Pranoot;
    • Honey, Engela;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Jones, Kelly L.
    Publication type:
    Article