These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 33106379)

  • 1. Biallelic cGMP-dependent type II protein kinase gene (
    Díaz-González F; Wadhwa S; Rodriguez-Zabala M; Kumar S; Aza-Carmona M; Sentchordi-Montané L; Alonso M; Ahmad I; Zahra S; Kumar D; Kushwah N; Shamim U; Sait H; Kapoor S; Roldán B; Nishimura G; Offiah AC; Faruq M; Heath KE
    J Med Genet; 2022 Jan; 59(1):28-38. PubMed ID: 33106379
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
    Mollaoğlu E; Uludağ Alkaya D; Yıldız CA; Kasap B; Tüysüz B
    Clin Genet; 2023 May; 103(5):574-579. PubMed ID: 36504352
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cyclic GMP-dependent protein kinase II plays a critical role in C-type natriuretic peptide-mediated endochondral ossification.
    Miyazawa T; Ogawa Y; Chusho H; Yasoda A; Tamura N; Komatsu Y; Pfeifer A; Hofmann F; Nakao K
    Endocrinology; 2002 Sep; 143(9):3604-10. PubMed ID: 12193576
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.
    Badawi S; Varghese DS; Raj A; John A; Al-Musafir HS; Al-Ghamari AJ; Alshamsi AR; Ouda SH; Al-Dirbashi G; Ali BR
    Front Cell Dev Biol; 2023; 11():1294748. PubMed ID: 38078000
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 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. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
    Reilly ML; Ain NU; Muurinen M; Tata A; Huber C; Simon M; Ishaq T; Shaw N; Rusanen S; Pekkinen M; Högler W; Knapen MFCM; van den Born M; Saunier S; Naz S; Cormier-Daire V; Benmerah A; Makitie O
    J Bone Miner Res; 2022 Sep; 37(9):1642-1652. PubMed ID: 35748595
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).
    Kumar M; Wadhwa S; Tyagi N; Ahmad I; Kumar S; Sagar S; Zahra S; Kamai A; Shamim U; Kapoor S; Faruq M
    Stem Cell Res; 2021 May; 53():102340. PubMed ID: 33887582
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle.
    Koltes JE; Mishra BP; Kumar D; Kataria RS; Totir LR; Fernando RL; Cobbold R; Steffen D; Coppieters W; Georges M; Reecy JM
    Proc Natl Acad Sci U S A; 2009 Nov; 106(46):19250-5. PubMed ID: 19887637
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of Diagnostic Variants in
    Zhu J; Meng R; Zhao H; Cai L; Wen X; Zeng W; Luo Y; Qi H
    DNA Cell Biol; 2022 Nov; 41(11):996-1006. PubMed ID: 36322898
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel
    Amano N; Kitoh H; Narumi S; Nishimura G; Hasegawa T
    Clin Pediatr Endocrinol; 2020; 29(3):99-103. PubMed ID: 32694885
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (
    Murch O; Jain V; Offiah AC
    Radiol Case Rep; 2021 Aug; 16(8):2240-2243. PubMed ID: 34178199
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.