210 related articles for article (PubMed ID: 32720985)
1. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
Hachiya R; Ohashi Y; Kamei Y; Suganami T; Mochizuki H; Mitsui N; Saitoh M; Sakuragi M; Nishimura G; Ohashi H; Hasegawa T; Ogawa Y
J Clin Endocrinol Metab; 2007 Oct; 92(10):4009-14. PubMed ID: 17652215
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
Khan S; Ali RH; Abbasi S; Nawaz M; Muhammad N; Ahmad W
BMC Med Genet; 2012 Jun; 13():44. PubMed ID: 22691581
[TBL] [Abstract][Full Text] [Related]
18.
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]
19. Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings.
Arya VB; Raj M; Younes M; Chapman S; Irving M; Kapoor RR; Buchanan CR
Horm Res Paediatr; 2020; 93(5):335-342. PubMed ID: 33238275
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
