BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 22218435)

  • 1. [Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].
    Leal Ade C; Canton AP; Montenegro LR; Coutinho DC; Arnhold IJ; Jorge AA
    Arq Bras Endocrinol Metabol; 2011 Nov; 55(8):541-9. PubMed ID: 22218435
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.
    Kruis T; Klammt J; Galli-Tsinopoulou A; Wallborn T; Schlicke M; Müller E; Kratzsch J; Körner A; Odeh R; Kiess W; Pfäffle R
    J Clin Endocrinol Metab; 2010 Mar; 95(3):1137-42. PubMed ID: 20103656
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic
    Ocaranza P; Losekoot M; Walenkamp MJE; De Bruin C; Wit JM; Mericq V
    J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):293-300. PubMed ID: 30859796
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.
    Labarta JI; Barrio E; Audí L; Fernández-Cancio M; Andaluz P; de Arriba A; Puga B; Calvo MT; Mayayo E; Carrascosa A; Ferrández-Longás A
    Clin Endocrinol (Oxf); 2013 Feb; 78(2):255-62. PubMed ID: 22738321
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation.
    Wallborn T; Wüller S; Klammt J; Kruis T; Kratzsch J; Schmidt G; Schlicke M; Müller E; van de Leur HS; Kiess W; Pfäffle R
    J Clin Endocrinol Metab; 2010 May; 95(5):2316-24. PubMed ID: 20357178
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.
    Choi JH; Kang M; Kim GH; Hong M; Jin HY; Lee BH; Park JY; Lee SM; Seo EJ; Yoo HW
    J Clin Endocrinol Metab; 2011 Jan; 96(1):E130-4. PubMed ID: 20962017
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in
    Stróżewska W; Durda-Masny M; Szwed A
    Genes (Basel); 2022 May; 13(5):. PubMed ID: 35627241
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Increasing knowledge in
    Giabicani E; Willems M; Steunou V; Chantot-Bastaraud S; Thibaud N; Abi Habib W; Azzi S; Lam B; Bérard L; Bony-Trifunovic H; Brachet C; Brischoux-Boucher E; Caldagues E; Coutant R; Cuvelier ML; Gelwane G; Guemas I; Houang M; Isidor B; Jeandel C; Lespinasse J; Naud-Saudreau C; Jesuran-Perelroizen M; Perrin L; Piard J; Sechter C; Souchon PF; Storey C; Thomas D; Le Bouc Y; Rossignol S; Netchine I; Brioude F
    J Med Genet; 2020 Mar; 57(3):160-168. PubMed ID: 31586944
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
    Walenkamp MJ; van der Kamp HJ; Pereira AM; Kant SG; van Duyvenvoorde HA; Kruithof MF; Breuning MH; Romijn JA; Karperien M; Wit JM
    J Clin Endocrinol Metab; 2006 Aug; 91(8):3062-70. PubMed ID: 16757531
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).
    Leal AC; Montenegro LR; Saito RF; Ribeiro TC; Coutinho DC; Mendonca BB; Arnhold IJ; Jorge AA
    Clin Endocrinol (Oxf); 2013 Apr; 78(4):558-63. PubMed ID: 22998174
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
    Ester WA; van Duyvenvoorde HA; de Wit CC; Broekman AJ; Ruivenkamp CA; Govaerts LC; Wit JM; Hokken-Koelega AC; Losekoot M
    J Clin Endocrinol Metab; 2009 Dec; 94(12):4717-27. PubMed ID: 19864454
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic IGF1R defects: new cases expand the spectrum of clinical features.
    Gonc EN; Ozon ZA; Oguz S; Kabacam S; Taskiran EZ; Kiper POS; Utine GE; Alikasifoglu A; Kandemir N; Boduroglu OK; Alikasifoglu M
    J Endocrinol Invest; 2020 Dec; 43(12):1739-1748. PubMed ID: 32356191
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Children born small-for-gestational age: postnatal growth and hormonal status.
    Albertsson-Wikland K; Boguszewski M; Karlberg J
    Horm Res; 1998; 49 Suppl 2():7-13. PubMed ID: 9730665
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
    Walenkamp MJ; Losekoot M; Wit JM
    Endocr Dev; 2013; 24():128-37. PubMed ID: 23392101
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Downstream insulin-like growth factor.
    Pfäffle R; Kiess W; Klammt J
    Endocr Dev; 2012; 23():42-51. PubMed ID: 23182819
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Role of insulin-like growth factors in growth, development and feeding.
    Wit JM; Walenkamp MJ
    World Rev Nutr Diet; 2013; 106():60-5. PubMed ID: 23428682
    [TBL] [Abstract][Full Text] [Related]  

  • 18. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
    Abuzzahab MJ; Schneider A; Goddard A; Grigorescu F; Lautier C; Keller E; Kiess W; Klammt J; Kratzsch J; Osgood D; Pfäffle R; Raile K; Seidel B; Smith RJ; Chernausek SD;
    N Engl J Med; 2003 Dec; 349(23):2211-22. PubMed ID: 14657428
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
    Fang P; Schwartz ID; Johnson BD; Derr MA; Roberts CT; Hwa V; Rosenfeld RG
    J Clin Endocrinol Metab; 2009 May; 94(5):1740-7. PubMed ID: 19240156
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
    Walenkamp MJ; de Muinck Keizer-Schrama SM; de Mos M; Kalf ME; van Duyvenvoorde HA; Boot AM; Kant SG; White SJ; Losekoot M; Den Dunnen JT; Karperien M; Wit JM
    J Clin Endocrinol Metab; 2008 Jun; 93(6):2421-5. PubMed ID: 18349070
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.