Search Results - BELINCHON, Alberta

  • Showing 1 - 9 results of 9
Refine Results
  1. 1
    Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

    Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region by Benito-Sanz, Sara, Belinchon-Martínez, Alberta, Aza-Carmona, Miriam, de la Torre, Carolina, Huber, Celine, González-Casado, Isabel, Ross, Judith L, Thomas, N Simon, Zinn, Andrew R, Cormier-Daire, Valerie, Heath, Karen E

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development

    NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development by Aza-Carmona, Miriam, Barca-Tierno, Veronica, Hisado-Oliva, Alfonso, Belinchón, Alberta, Gorbenko-del Blanco, Darya, Rodriguez, Jose Ignacio, Benito-Sanz, Sara, Campos-Barros, Angel, Heath, Karen E

    Published in PloS one
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

    SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer by AZA-CARMONA, Miriam, SHEARS, Debbie J, SCAMBLER, Peter J, HEATH, Karen E, YUSTE-CHECA, Patricia, BARCA-TIERNO, Verónica, HISADO-OLIVA, Alfonso, BELINCHON, Alberta, BENITO-SANZ, Sara, RODRIGUEZ, J. Ignacio, ARGENTE, Jesus, CAMPOS-BARROS, Angel

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  4. 4
    Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

    Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations by Barraza-García, Jimena, Iván Rivera-Pedroza, Carlos, Salamanca, Luis, Belinchón, Alberta, López-González, Vanesa, Sentchordi-Montané, Lucía, del Pozo, Ángela, Santos-Simarro, Fernando, Campos-Barros, Ángel, Lapunzina, Pablo, Guillén-Navarro, Encarna, González-Casado, Isabel, García-Miñaur, Sixto, Heath, Karen E.

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  5. 5
    CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

    CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms by Romanelli, Valeria, Belinchón, Alberta, Benito-Sanz, Sara, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E., Campos-Barros, Angel, García-Miñaur, Sixto, Fernandez, Luís, Meneses, Heloisa, López-Siguero, Juan Pedro, Guillén-Navarro, Encarna, Gómez-Puertas, Paulino, Wesselink, Jan-Jaap, Mercado, Graciela, Esteban-Marfil, Victoria, Palomo, Rebeca, Mena, Rocío, Sánchez, Aurora, del Campo, Miguel, Lapunzina, Pablo

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    Bilateral follicular variant of papillary thyroid cancer with different RAS mutations detected with next‐generation sequencing: Report of an unusual case and literature review

    Bilateral follicular variant of papillary thyroid cancer with different RAS mutations detected with next‐generation sequencing: Report of an unusual case and literature review by Marín, Fernando, Nuevo, Esther, Belinchón, Alberta, Acevedo, Agustín

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  7. 7
    Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

    Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis by Hisado-Oliva, Alfonso, Garre-Vázquez, Ana I, Santaolalla-Caballero, Fabiola, Belinchón, Alberta, Barreda-Bonis, Ana C, Vasques, Gabriela A, Ramirez, Joaquin, Luzuriaga, Cristina, Carlone, Gianni, González-Casado, Isabel, Benito-Sanz, Sara, Jorge, Alexander A, Campos-Barros, Angel, Heath, Karen E

    Get full text
    Items that cite this one
    Article
    Save to List
    Saved in:
  8. 8
    A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient

    A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient by Barraza-García, Jimena, Rivera-Pedroza, Carlos I, Belinchón, Alberta, Fernández-Camblor, Carlota, Valenciano-Fuente, Blanca, Lapunzina, Pablo, Heath, Karen E

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  9. 9
    Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

    Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD) by Barroso, Eva, Benito-Sanz, Sara, Belinchón, Alberta, Yuste-Checa, Patricia, Gracia, Ricardo, Aragones, Ángel, Campos-Barros, Ángel, Heath, Karen E

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:

Search Tools: