Artigo de periodico

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations (2017)

• Authors:
  • Gkourogianni, Alexandra
  • Andrew, Melissa
  • Tyzinski, Leah
  • Crocker, Melissa
  • Douglas, Jessica
  • Dunbar, Nancy
  • Fairchild, Jan
  • Funari, Mariana F. A.
  • Heath, Karen E.
  • Jorge, Alexander A. L.
  • Kurtzman, Tracey
  • LaFranchi, Stephen
  • Lalani, Seema
  • Lebl, Jan
  • Lin, Yuezhen
  • Los, Evan
  • Newbern, Dorothee
  • Nowak, Catherine
  • Olson, Micah
  • Popovic, Jadranka
  • Průhová, Štěpánka
  • Elblova, Lenka
  • Quintos, Jose Bernardo
  • Segerlund, Emma
  • Sentchordi, Lucia
  • Shinawi, Marwan
  • Stattin, Eva-Lena
  • Swartz, Jonathan
  • del Angel, Ariadna González
  • Cuéllar, Sinhué Diaz
  • Hosono, Hidekazu
  • Sanchez-Lara, Pedro A.
  • Hwa, Vivian
  • Baron, Jeffrey
  • Nilsson, Ola
  • Dauber, Andrew
• Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
• Unidade: FM
• DOI: 10.1210/jc.2016-3313
• Subjects: CRIANÇAS; MUTAÇAO GENÉTICA; ESTATURA
• Language: Inglês
• Imprenta:
  • Publisher place: Springfield
  • Date published: 2017
• Source:
  • Título: Journal of clinical endocrinology and metabolism
  • ISSN: 0021-972X
  • Volume/Número/Paginação/Ano: v. 102, n. 2, p. 460-469, 2017


Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).

Status:

Artigo possui acesso gratuito no site do editor (Bronze Open Access)

Versão do Documento:

Versão publicada (Published version)

Acessar versão aberta:

• PDF de acesso aberto

Por se tratar de integração com serviço externo, podem existir diferentes versões do trabalho (como preprints ou postprints), que podem diferir da versão publicada.

---

How to cite

A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

• ABNT

  GKOUROGIANNI, Alexandra et al. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of clinical endocrinology and metabolism, v. 102, n. 2, p. 460-469, 2017Tradução . . Disponível em: https://doi.org/10.1210/jc.2016-3313. Acesso em: 01 abr. 2026.

• APA

  Gkourogianni, A., Andrew, M., Tyzinski, L., Crocker, M., Douglas, J., Dunbar, N., et al. (2017). Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of clinical endocrinology and metabolism, 102( 2), 460-469. doi:10.1210/jc.2016-3313

• NLM

  Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Průhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin E-L, Swartz J, del Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [Internet]. Journal of clinical endocrinology and metabolism. 2017 ; 102( 2): 460-469.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1210/jc.2016-3313

• Vancouver

  Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Průhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin E-L, Swartz J, del Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [Internet]. Journal of clinical endocrinology and metabolism. 2017 ; 102( 2): 460-469.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1210/jc.2016-3313

Últimas obras dos mesmos autores vinculados com a USP cadastradas na BDPI:

• The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
• Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
• Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
• Development of a minimum dataset for the monitoring of recombinant human growth hormone (rhGH) therapy use in children with growth hormone deficiency (GHD) - a gloBE-reg initiative
• Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
• SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
• Novel SUZ12 mutations in Weaver-like syndrome
• Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients
• Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
• Genetic short stature