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The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.

Becker NS, Verdu P, Georges M, Duquesnoy P, Froment A, Amselem S, Le Bouc Y, Heyer E.

Eur J Hum Genet. 2013 Jun;21(6):653-8. doi: 10.1038/ejhg.2012.223. Epub 2012 Oct 10.


The IGF1 P2 promoter is an epigenetic QTL for circulating IGF1 and human growth.

Ouni M, Gunes Y, Belot MP, Castell AL, Fradin D, Bougnères P.

Clin Epigenetics. 2015 Mar 13;7(1):22. doi: 10.1186/s13148-015-0062-8. eCollection 2015.


Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter-gatherers.

Perry GH, Foll M, Grenier JC, Patin E, Nédélec Y, Pacis A, Barakatt M, Gravel S, Zhou X, Nsobya SL, Excoffier L, Quintana-Murci L, Dominy NJ, Barreiro LB.

Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):E3596-603. doi: 10.1073/pnas.1402875111. Epub 2014 Aug 18.


Genetic evaluation of short stature.

Dauber A, Rosenfeld RG, Hirschhorn JN.

J Clin Endocrinol Metab. 2014 Sep;99(9):3080-92. doi: 10.1210/jc.2014-1506. Epub 2014 Jun 10. Review.


Diet-related buccal dental microwear patterns in Central African Pygmy foragers and Bantu-speaking farmer and pastoralist populations.

Romero A, Ramírez-Rozzi FV, De Juan J, Pérez-Pérez A.

PLoS One. 2013 Dec 19;8(12):e84804. doi: 10.1371/journal.pone.0084804. eCollection 2013.


Evolution of the pygmy phenotype: evidence of positive selection fro genome-wide scans in African, Asian, and Melanesian pygmies.

Migliano AB, Romero IG, Metspalu M, Leavesley M, Pagani L, Antao T, Huang DW, Sherman BT, Siddle K, Scholes C, Hudjashov G, Kaitokai E, Babalu A, Belatti M, Cagan A, Hopkinshaw B, Shaw C, Nelis M, Metspalu E, Mägi R, Lempicki RA, Villems R, Lahr MM, Kivisild T.

Hum Biol. 2013 Feb-Jun;85(1-3):251-84.


A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A.

J Clin Endocrinol Metab. 2014 Jan;99(1):E153-9. doi: 10.1210/jc.2013-3106. Epub 2013 Dec 20.


Heterozygous GHR gene mutation in a child with idiopathic short stature.

Pagani S, Petkovic V, Messini B, Meazza C, Bozzola E, Mullis PE, Bozzola M.

J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):329-34. doi: 10.1515/jpem-2013-0359.


SNPs within the GH-signaling pathway are associated with the early IGF1 response to GH replacement therapy in GHD adults.

Glad CA, Barbosa EJ, Filipsson Nyström H, Carlsson LM, Nilsson S, Nilsson AG, Svensson PA, Johannsson G.

Eur J Endocrinol. 2013 Nov 25;170(1):101-7. doi: 10.1530/EJE-13-0685. Print 2014 Jan.


Recent acquisition of Helicobacter pylori by Baka pygmies.

Nell S, Eibach D, Montano V, Maady A, Nkwescheu A, Siri J, Elamin WF, Falush D, Linz B, Achtman M, Moodley Y, Suerbaum S.

PLoS Genet. 2013;9(9):e1003775. doi: 10.1371/journal.pgen.1003775. Epub 2013 Sep 19.


Genetic polymorphisms and protein structures in growth hormone, growth hormone receptor, ghrelin, insulin-like growth factor 1 and leptin in Mehraban sheep.

Bahrami A, Behzadi Sh, Miraei-Ashtiani SR, Roh SG, Katoh K.

Gene. 2013 Sep 15;527(1):397-404. doi: 10.1016/j.gene.2013.05.066. Epub 2013 Jun 7.


IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.

Bertelloni S, Baroncelli GI, Dati E, Ghione S, Baldinotti F, Toschi B, Simi P.

Hormones (Athens). 2013 Jan-Mar;12(1):86-92.


Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

Petkovic V, Miletta MC, Boot AM, Losekoot M, Flück CE, Pandey AV, Eblé A, Wit JM, Mullis PE.

Eur J Endocrinol. 2013 Feb 15;168(3):K35-43. doi: 10.1530/EJE-12-0847. Print 2013 Mar.


Sociocultural behavior, sex-biased admixture, and effective population sizes in Central African Pygmies and non-Pygmies.

Verdu P, Becker NS, Froment A, Georges M, Grugni V, Quintana-Murci L, Hombert JM, Van der Veen L, Le Bomin S, Bahuchet S, Heyer E, Austerlitz F.

Mol Biol Evol. 2013 Apr;30(4):918-37. doi: 10.1093/molbev/mss328. Epub 2013 Jan 7.


Using height association studies to gain insights into human idiopathic short and syndromic stature phenotypes.

Lettre G.

Pediatr Nephrol. 2013 Apr;28(4):557-62. doi: 10.1007/s00467-012-2301-y. Epub 2012 Sep 2. Review.


Synergistic and threshold effects of GH1 and GHR promoter size variation on body growth and fat accrual in young Nelore (Bos indicus) bulls.

Dani MA, von Cube M, Freire IL, Suguisawa L, Fischer C, Dani SU.

Genet Mol Res. 2012 Jun 29;11(2):1783-98. doi: 10.4238/2012.June.29.11.


Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.

Fuqua JS, Derr M, Rosenfeld RG, Hwa V.

Horm Res Paediatr. 2012;78(1):59-66. doi: 10.1159/000337249. Epub 2012 Jul 20.


No effect of the IGF-1 gene rs35767 and rs17032362 polymorphisms in the etiology of idiopathic short stature.

Tekcan D, Baş F, Atalar F, Aydin BK, Akan G, Tarhan T, Bundak R, Darendeliler F.

Exp Clin Endocrinol Diabetes. 2012 Jul;120(7):395-400. doi: 10.1055/s-0032-1314810. Epub 2012 Jun 11.


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. doi: 10.1159/000338341. Epub 2012 May 9.


Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African pygmies.

Jarvis JP, Scheinfeldt LB, Soi S, Lambert C, Omberg L, Ferwerda B, Froment A, Bodo JM, Beggs W, Hoffman G, Mezey J, Tishkoff SA.

PLoS Genet. 2012;8(4):e1002641. doi: 10.1371/journal.pgen.1002641. Epub 2012 Apr 26.

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