BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

387 related articles for article (PubMed ID: 28768959)

  • 1. 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]  

  • 2. Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
    Kumar A; Jain V; Chowdhury MR; Kumar M; Kaur P; Kabra M
    J Pediatr Endocrinol Metab; 2020 Jan; 33(1):79-88. PubMed ID: 31834863
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation.
    Lettre G; Butler JL; Ardlie KG; Hirschhorn JN
    Hum Genet; 2007 Sep; 122(2):129-39. PubMed ID: 17546465
    [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. Genetic evaluation of short stature.
    Wit JM; Kiess W; Mullis P
    Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):1-17. PubMed ID: 21396571
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic analysis of short children with apparent growth hormone insensitivity.
    Wit JM; van Duyvenvoorde HA; Scheltinga SA; de Bruin S; Hafkenscheid L; Kant SG; Ruivenkamp CA; Gijsbers AC; van Doorn J; Feigerlova E; Noordam C; Walenkamp MJ; Claahsen-van de Grinten H; Stouthart P; Bonapart IE; Pereira AM; Gosen J; Delemarre-van de Waal HA; Hwa V; Breuning MH; Domené HM; Oostdijk W; Losekoot M
    Horm Res Paediatr; 2012; 77(5):320-33. PubMed ID: 22678306
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
    Cohen E; Belkacem S; Fedala S; Collot N; Khallouf E; Dastot F; Polak M; Duquesnoy P; Brioude F; Rose S; Viot G; Soleyan A; Carel JC; Sobrier ML; Chanson P; Gatelais F; Heinrichs C; Kaffel N; Coutant R; Savaş Erdeve Ş; Kurnaz E; Aycan Z; Thalassinos C; Lyonnet S; Şıklar Z; Berberoglu M; Brachet C; Amselem S; Legendre M
    Hum Mutat; 2019 Nov; 40(11):2033-2043. PubMed ID: 31231873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
    Domené HM; Scaglia PA; Martínez AS; Keselman AC; Karabatas LM; Pipman VR; Bengolea SV; Guida MC; Ropelato MG; Ballerini MG; Lescano EM; Blanco MA; Heinrich JJ; Rey RA; Jasper HG
    Horm Res Paediatr; 2013; 80(6):413-23. PubMed ID: 24335034
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.
    Wit JM; Oostdijk W; Losekoot M; van Duyvenvoorde HA; Ruivenkamp CA; Kant SG
    Eur J Endocrinol; 2016 Apr; 174(4):R145-73. PubMed ID: 26578640
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
    Sundralingam T; Tennekoon KH; de Silva S; De Silva S; Hewage AS
    Growth Horm IGF Res; 2017 Oct; 36():22-29. PubMed ID: 28910730
    [TBL] [Abstract][Full Text] [Related]  

  • 12. IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).
    Caliebe J; Broekman S; Boogaard M; Bosch CA; Ruivenkamp CA; Oostdijk W; Kant SG; Binder G; Ranke MB; Wit JM; Losekoot M
    Horm Res Paediatr; 2012; 77(4):250-60. PubMed ID: 22572840
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
    Hess O; Khayat M; Hwa V; Heath KE; Teitler A; Hritan Y; Allon-Shalev S; Tenenbaum-Rakover Y
    Clin Endocrinol (Oxf); 2013 Dec; 79(6):838-44. PubMed ID: 23488611
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
    de Graaff LC; Argente J; Veenma DC; Herrebout MA; Friesema EC; Uitterlinden AG; Drent ML; Campos-Barros A; Hokken-Koelega AC
    Clin Endocrinol (Oxf); 2009 May; 70(5):742-50. PubMed ID: 18785993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
    Savage MO; Camacho-Hübner C; David A; Metherell LA; Hwa V; Rosenfeld RG; Clark AJ
    Eur J Endocrinol; 2007 Aug; 157 Suppl 1():S33-7. PubMed ID: 17785695
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.
    Martari M; Salvatori R
    Prog Mol Biol Transl Sci; 2009; 88():57-84. PubMed ID: 20374725
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.
    Spurná Z; Čapková P; Punová L; DuchoslavovÁ J; Aleksijevic D; Venháčová P; Srovnal J; Štellmachová J; Curtisová V; Bitnerová V; Petřková J; Kolaříková K; Janíková M; Kratochvílová R; Vrtěl P; Vodička R; Vrtěl R; Zapletalová J
    Gene; 2024 Jan; 892():147881. PubMed ID: 37806643
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.