BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 25703509)

  • 1. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
    Wang SR; Jacobsen CM; Carmichael H; Edmund AB; Robinson JW; Olney RC; Miller TC; Moon JE; Mericq V; Potter LR; Warman ML; Hirschhorn JN; Dauber A
    Hum Mutat; 2015 Apr; 36(4):474-81. PubMed ID: 25703509
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
    Vasques GA; Amano N; Docko AJ; Funari MF; Quedas EP; Nishi MY; Arnhold IJ; Hasegawa T; Jorge AA
    J Clin Endocrinol Metab; 2013 Oct; 98(10):E1636-44. PubMed ID: 24001744
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.
    Olney RC; Bükülmez H; Bartels CF; Prickett TC; Espiner EA; Potter LR; Warman ML
    J Clin Endocrinol Metab; 2006 Apr; 91(4):1229-32. PubMed ID: 16384845
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.
    Hanley PC; Kanwar HS; Martineau C; Levine MA
    J Clin Endocrinol Metab; 2020 Oct; 105(10):3190-202. PubMed ID: 32720985
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
    Hisado-Oliva A; Garre-Vázquez AI; Santaolalla-Caballero F; Belinchón A; Barreda-Bonis AC; Vasques GA; Ramirez J; Luzuriaga C; Carlone G; González-Casado I; Benito-Sanz S; Jorge AA; Campos-Barros A; Heath KE
    J Clin Endocrinol Metab; 2015 Aug; 100(8):E1133-42. PubMed ID: 26075495
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
    Irfanullah ; Zeb A; Shinwari N; Shah K; Gilani SZT; Khan S; Lee KW; Raza SI; Hussain S; Liaqat K; Ahmad W
    Int J Biochem Cell Biol; 2018 Sep; 102():76-86. PubMed ID: 30016695
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
    Ke X; Liang H; Miao H; Yang H; Wang L; Gong F; Pan H; Zhu H
    J Clin Endocrinol Metab; 2021 Jan; 106(2):431-441. PubMed ID: 33205215
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
    Amano N; Mukai T; Ito Y; Narumi S; Tanaka T; Yokoya S; Ogata T; Hasegawa T
    J Clin Endocrinol Metab; 2014 Apr; 99(4):E713-8. PubMed ID: 24471569
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
    Irfanullah ; Umair M; Khan S; Ahmad W
    Ann Hum Genet; 2015 Jul; 79(4):238-44. PubMed ID: 25959430
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
    Wang W; Song MH; Miura K; Fujiwara M; Nawa N; Ohata Y; Kitaoka T; Kubota T; Namba N; Jin DK; Kim OH; Ozono K; Cho TJ
    Am J Med Genet A; 2016 Feb; 170A(2):426-434. PubMed ID: 26567084
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
    Srivastava P; Tuteja M; Dalal A; Mandal K; R Phadke S
    J Genet; 2016 Dec; 95(4):905-909. PubMed ID: 27994189
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.
    Vasques GA; Hisado-Oliva A; Funari MF; Lerario AM; Quedas EP; Solberg P; Heath KE; Jorge AA
    J Pediatr Endocrinol Metab; 2017 Jan; 30(1):111-116. PubMed ID: 27941173
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Acromesomelic dysplasia-Maroteaux type, nine patients with two novel
    Kılıç E; Çavdarlı B; Büyükyılmaz G; Kılıç M
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1115-1121. PubMed ID: 34162036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
    Miura K; Kim OH; Lee HR; Namba N; Michigami T; Yoo WJ; Choi IH; Ozono K; Cho TJ
    Am J Med Genet A; 2014 Jan; 164A(1):156-63. PubMed ID: 24259409
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.
    Ain NU; Iqbal M; Valta H; Emerling CA; Ahmed S; Makitie O; Naz S
    Eur J Med Genet; 2019 Sep; 62(9):103554. PubMed ID: 30359775
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
    Simsek-Kiper PO; Urel-Demir G; Taskiran EZ; Arslan UE; Nur B; Mihci E; Haliloglu M; Alanay Y; Utine GE; Boduroglu K
    J Hum Genet; 2021 Jun; 66(6):585-596. PubMed ID: 33288834
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.
    Hwang IT; Mizuno Y; Amano N; Lee HJ; Shim YS; Nam HK; Rhie YJ; Yang S; Lee KH; Hasegawa T; Kang MJ
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1146. PubMed ID: 31960617
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterozygous
    Stavber L; Gaia MJ; Hovnik T; Jenko Bizjan B; Debeljak M; Kovač J; Omladič JŠ; Battelino T; Kotnik P; Dovč K
    Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741827
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.
    Li Q; Fan X; Lu W; Sun C; Pei Z; Zhang M; Ni J; Wu J; Yu FX; Luo F
    Cells; 2022 Apr; 11(8):. PubMed ID: 35455946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.
    Tran TH; Cao MH; Luong LH; Le PT; Vu DC; Ta TD; Bui TH; Nguyen DH; Van Ta T; Tran VK
    Am J Med Genet A; 2019 Aug; 179(8):1420-1422. PubMed ID: 31077548
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.