BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 32413843)

  • 1. Aggrecanopathies highlight the need for genetic evaluation of ISS children.
    Nilsson O
    Eur J Endocrinol; 2020 Aug; 183(2):C9-C10. PubMed ID: 32413843
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
    Nilsson O; Guo MH; Dunbar N; Popovic J; Flynn D; Jacobsen C; Lui JC; Hirschhorn JN; Baron J; Dauber A
    J Clin Endocrinol Metab; 2014 Aug; 99(8):E1510-8. PubMed ID: 24762113
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
    Hauer NN; Sticht H; Boppudi S; Büttner C; Kraus C; Trautmann U; Zenker M; Zweier C; Wiesener A; Jamra RA; Wieczorek D; Kelkel J; Jung AM; Uebe S; Ekici AB; Rohrer T; Reis A; Dörr HG; Thiel CT
    Sci Rep; 2017 Sep; 7(1):12225. PubMed ID: 28939912
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
    Lin L; Li M; Luo J; Li P; Zhou S; Yang Y; Chen K; Weng Y; Ge X; Mireguli M; Wei H; Yang H; Li G; Sun Y; Cui L; Zhang S; Chen J; Zeng G; Xu L; Luo X; Shen Y
    J Clin Endocrinol Metab; 2021 Jun; 106(7):e2711-e2719. PubMed ID: 33606014
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
    Quintos JB; Guo MH; Dauber A
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):927-32. PubMed ID: 25741789
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
    Gkourogianni A; Andrew M; Tyzinski L; Crocker M; Douglas J; Dunbar N; Fairchild J; Funari MF; Heath KE; Jorge AA; Kurtzman T; LaFranchi S; Lalani S; Lebl J; Lin Y; Los E; Newbern D; Nowak C; Olson M; Popovic J; Pruhová Š; Elblova L; Quintos JB; Segerlund E; Sentchordi L; Shinawi M; Stattin EL; Swartz J; Angel AG; Cuéllar SD; Hosono H; Sanchez-Lara PA; Hwa V; Baron J; Nilsson O; Dauber A
    J Clin Endocrinol Metab; 2017 Feb; 102(2):460-469. PubMed ID: 27870580
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genomic insights into growth and its disorders: an update.
    de Bruin C; Dauber A
    Curr Opin Endocrinol Diabetes Obes; 2016 Feb; 23(1):51-6. PubMed ID: 26702851
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
    Sentchordi-Montané L; Aza-Carmona M; Benito-Sanz S; Barreda-Bonis AC; Sánchez-Garre C; Prieto-Matos P; Ruiz-Ocaña P; Lechuga-Sancho A; Carcavilla-Urquí A; Mulero-Collantes I; Martos-Moreno GA; Del Pozo A; Vallespín E; Offiah A; Parrón-Pajares M; Dinis I; Sousa SB; Ros-Pérez P; González-Casado I; Heath KE
    Clin Endocrinol (Oxf); 2018 Jun; 88(6):820-829. PubMed ID: 29464738
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
    Hattori A; Katoh-Fukui Y; Nakamura A; Matsubara K; Kamimaki T; Tanaka H; Dateki S; Adachi M; Muroya K; Yoshida S; Ida S; Mitani M; Nagasaki K; Ogata T; Suzuki E; Hata K; Nakabayashi K; Matsubara Y; Narumi S; Tanaka T; Fukami M
    Endocr J; 2017 Oct; 64(10):947-954. PubMed ID: 28768959
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A child with a novel ACAN missense variant mimicking a septic arthritis.
    Florio A; Papa R; Caorsi R; Consolaro A; Gastaldi R; Gattorno M; Picco P
    Ital J Pediatr; 2019 Nov; 45(1):148. PubMed ID: 31747937
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
    Ye X; Fang D; He Y; Yan H; Qiu W; Sun Y
    Eur J Med Genet; 2020 Dec; 63(12):104074. PubMed ID: 32980524
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.
    Hujeirat Y; Hess O; Shalev S; Tenenbaum-Rakover Y
    Horm Res; 2006; 65(4):210-6. PubMed ID: 16582564
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel pathogenic ACAN variants in non-syndromic short stature patients.
    Hu X; Gui B; Su J; Li H; Li N; Yu T; Zhang Q; Xu Y; Li G; Chen Y; Qing Y; ; Li C; Luo J; Fan X; Ding Y; Li J; Wang J; Wang X; Chen S; Shen Y
    Clin Chim Acta; 2017 Jun; 469():126-129. PubMed ID: 28396070
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature.
    Goddard AD; Dowd P; Chernausek S; Geffner M; Gertner J; Hintz R; Hopwood N; Kaplan S; Plotnick L; Rogol A; Rosenfield R; Saenger P; Mauras N; Hershkopf R; Angulo M; Attie K
    J Pediatr; 1997 Jul; 131(1 Pt 2):S51-5. PubMed ID: 9255229
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Growth hormone/IGF-I axis and growth hormone receptor mutations in idiopathic short stature.
    El Kholy M; Mella P; Rashad M; Buzi F; Meazza C; Zahra S; Elsedfy HH
    Horm Res Paediatr; 2011; 76(5):300-6. PubMed ID: 21846964
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotypes and phenotypes of children with SHOX deficiency in France.
    Rosilio M; Huber-Lequesne C; Sapin H; Carel JC; Blum WF; Cormier-Daire V
    J Clin Endocrinol Metab; 2012 Jul; 97(7):E1257-65. PubMed ID: 22518848
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
    Benito-Sanz S; Barroso E; Heine-Suñer D; Hisado-Oliva A; Romanelli V; Rosell J; Aragones A; Caimari M; Argente J; Ross JL; Zinn AR; Gracia R; Lapunzina P; Campos-Barros A; Heath KE
    J Clin Endocrinol Metab; 2011 Feb; 96(2):E404-12. PubMed ID: 21147883
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review.
    Liang H; Miao H; Pan H; Yang H; Gong F; Duan L; Chen S; Wang L; Zhu H
    Endocr Pract; 2020 Nov; 26(11):1255-1268. PubMed ID: 33471655
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
    Dateki S; Nakatomi A; Watanabe S; Shimizu H; Inoue Y; Baba H; Yoshiura KI; Moriuchi H
    J Hum Genet; 2017 Jul; 62(7):717-721. PubMed ID: 28331218
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
    Xu D; Sun C; Zhou Z; Wu B; Yang L; Chang Z; Zhang M; Xi L; Cheng R; Ni J; Luo F
    BMC Med Genet; 2018 May; 19(1):79. PubMed ID: 29769040
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.