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150 related items for PubMed ID: 24664892

  • 1. The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
    Gonçalves FT, Fridman C, Pinto EM, Guevara-Aguirre J, Shevah O, Rosembloom AL, Hwa V, Cassorla F, Rosenfeld RG, Lins TS, Damiani D, Arnhold IJ, Laron Z, Jorge AA.
    Am J Med Genet A; 2014 May; 164A(5):1204-8. PubMed ID: 24664892
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  • 2. [Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].
    Jorge AA, Menezes Filho HC, Lins TS, Guedes DR, Damiani D, Setian N, Arnhold IJ, Mendonça BB.
    Arq Bras Endocrinol Metabol; 2005 Jun; 49(3):384-9. PubMed ID: 16543992
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  • 3. The origin of the p.E180 growth hormone receptor gene mutation.
    Ostrer H.
    Growth Horm IGF Res; 2016 Jun; 28():51-2. PubMed ID: 26277320
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  • 4. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.
    Berg MA, Peoples R, Pérez-Jurado L, Guevara-Aguirre J, Rosenbloom AL, Laron Z, Milner RD, Francke U.
    Acta Paediatr Suppl; 1994 Apr; 399():112-4. PubMed ID: 7949594
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  • 7. Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.
    Arman A, Ozon A, Isguven PS, Coker A, Peker I, Yordam N.
    J Pediatr Endocrinol Metab; 2008 Jan; 21(1):47-58. PubMed ID: 18404972
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  • 8. Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.
    Gennero I, Edouard T, Rashad M, Bieth E, Conte-Aurio F, Marin F, Tauber M, Salles JP, El Kholy M.
    J Pediatr Endocrinol Metab; 2007 Jul; 20(7):825-31. PubMed ID: 17849745
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  • 9. Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.
    Akinci A, Karakurt C, Hwa V, Dündar I, Çamtosun E.
    Cardiovasc J Afr; 2007 Jul; 30(2):e7-e8. PubMed ID: 30720842
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  • 10. A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
    Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V.
    Horm Res Paediatr; 2013 Jul; 80(6):397-405. PubMed ID: 24296660
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  • 11. Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.
    Al-Ashwal AA, Al-Sagheir A, Ramzan K, Al-Owain M, Allam R, Qari A, Al-Numair NS, Imtiaz F.
    Horm Res Paediatr; 2017 Jul; 88(2):119-126. PubMed ID: 28743110
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  • 12. Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.
    Moia S, Tessaris D, Einaudi S, de Sanctis L, Bona G, Bellone S, Prodam F.
    Ital J Pediatr; 2017 Oct 12; 43(1):94. PubMed ID: 29025428
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  • 14. Diverse growth hormone receptor gene mutations in Laron syndrome.
    Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo SP, Francke U.
    Am J Hum Genet; 1993 May 12; 52(5):998-1005. PubMed ID: 8488849
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  • 15. Fifty seven years of follow-up of the Israeli cohort of Laron Syndrome patients-From discovery to treatment.
    Laron Z, Kauli R.
    Growth Horm IGF Res; 2016 Jun 12; 28():53-6. PubMed ID: 26307357
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  • 16. Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.
    Janecka A, Kołodziej-Rzepa M, Biesaga B.
    In Vivo; 2016 Jun 12; 30(4):375-81. PubMed ID: 27381597
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  • 17. Novel growth hormone receptor gene mutation in a patient with Laron syndrome.
    Arman A, Yüksel B, Coker A, Sarioz O, Temiz F, Topaloglu AK.
    J Pediatr Endocrinol Metab; 2010 Apr 12; 23(4):407-14. PubMed ID: 20583548
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  • 18. The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula.
    Adams SM, Bosch E, Balaresque PL, Ballereau SJ, Lee AC, Arroyo E, López-Parra AM, Aler M, Grifo MS, Brion M, Carracedo A, Lavinha J, Martínez-Jarreta B, Quintana-Murci L, Picornell A, Ramon M, Skorecki K, Behar DM, Calafell F, Jobling MA.
    Am J Hum Genet; 2008 Dec 12; 83(6):725-36. PubMed ID: 19061982
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  • 19. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.
    Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M.
    Hum Mol Genet; 1993 Apr 12; 2(4):355-9. PubMed ID: 8504296
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