199 related articles for article (PubMed ID: 33205215)
1. 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]
2. 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]
3. 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]
4. Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
Chen H; Zhang S; Sun Y; Chen J; Yuan K; Zhang Y; Yang X; Lin X; Chen R
Orphanet J Rare Dis; 2023 Jul; 18(1):221. PubMed ID: 37501190
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
Plachy L; Dusatkova P; Maratova K; Petruzelkova L; Zemkova D; Elblova L; Kucerova P; Toni L; Kolouskova S; Snajderova M; Sumnik Z; Lebl J; Pruhova S
J Clin Endocrinol Metab; 2020 Mar; 105(3):. PubMed ID: 31990356
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9.
Yuan K; Chen J; Chen Q; Chen H; Zhu J; Fang Y; Wang C
J Pediatr Endocrinol Metab; 2022 Feb; 35(2):185-190. PubMed ID: 34565054
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M; Miao H; Liang H; Ke X; Yang H; Gong F; Wang L; Duan L; Chen S; Pan H; Zhu H
Front Endocrinol (Lausanne); 2022; 13():820001. PubMed ID: 35250876
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Novel Loss-of-Function Mutations in
Wu J; Wang M; Jiao Z; Dou B; Li B; Zhang J; Zhang H; Sun Y; Tu X; Kong X; Bai Y
Front Genet; 2022; 13():823861. PubMed ID: 35368703
[TBL] [Abstract][Full Text] [Related]
16. A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
Mustafa S; Akhtar Z; Latif M; Hassan M; Faisal M; Iqbal F
Genes Genomics; 2020 Aug; 42(8):847-854. PubMed ID: 32506268
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous
Jacob M; Menon S; Botti C; Marshall I
Case Rep Endocrinol; 2018; 2018():7658496. PubMed ID: 30622824
[TBL] [Abstract][Full Text] [Related]
18. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Hisado-Oliva A; Ruzafa-Martin A; Sentchordi L; Funari MFA; Bezanilla-López C; Alonso-Bernáldez M; Barraza-García J; Rodriguez-Zabala M; Lerario AM; Benito-Sanz S; Aza-Carmona M; Campos-Barros A; Jorge AAL; Heath KE
Genet Med; 2018 Jan; 20(1):91-97. PubMed ID: 28661490
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
