Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 108

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. doi: 10.1002/ajmg.a.36444. Epub 2014 Mar 24.

PMID:
24664892
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. Epub 2006 Mar 16. Portuguese.

3.

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.

PMID:
7949594
4.

E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: a probable common Mediterranean ancestor.

Espinosa C, Sjoberg M, Salazar T, Rodriguez A, Cassorla FG, Mericq MV, Carvallo P.

J Pediatr Endocrinol Metab. 2008 Dec;21(12):1119-27.

PMID:
19189684
5.

The origin of the p.E180 growth hormone receptor gene mutation.

Ostrer H.

Growth Horm IGF Res. 2016 Jun;28:51-2. doi: 10.1016/j.ghir.2015.08.003. Epub 2015 Aug 7.

PMID:
26277320
6.

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.

PMID:
18404972
7.

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.

PMID:
17849745
8.

An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.

Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D.

Hum Genet. 2010 Sep;128(3):261-7. doi: 10.1007/s00439-010-0846-z. Epub 2010 Jun 13.

PMID:
20549516
9.

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;52(5):998-1005.

10.

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;23(4):407-14.

PMID:
20583548
11.

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;83(6):725-36. doi: 10.1016/j.ajhg.2008.11.007.

12.

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;80(6):397-405. doi: 10.1159/000355404. Epub 2013 Nov 26.

PMID:
24296660
13.

Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.

Fang P, Girgis R, Little BM, Pratt KL, Guevara-Aguirre J, Hwa V, Rosenfeld RG.

J Clin Endocrinol Metab. 2008 Mar;93(3):1030-7. Epub 2007 Dec 11. Erratum in: J Clin Endocrinol Metab. 2008 Dec;93(12):4984.

PMID:
18073295
14.

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;2(4):355-9.

PMID:
8504296
15.

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood.

Hammer MF, Behar DM, Karafet TM, Mendez FL, Hallmark B, Erez T, Zhivotovsky LA, Rosset S, Skorecki K.

Hum Genet. 2009 Nov;126(5):707-17. doi: 10.1007/s00439-009-0727-5. Epub 2009 Aug 8.

16.

A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I.

Kang JH, Kim OS, Kim JH, Lee SK, Park YJ, Baik HW.

Int J Mol Med. 2012 Sep;30(3):713-7. doi: 10.3892/ijmm.2012.1048. Epub 2012 Jun 28.

PMID:
22751808
17.

Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.

Hui HN, Metherell LA, Ng KL, Savage MO, Camacho-Hübner C, Clark AJ.

J Pediatr Endocrinol Metab. 2005 Feb;18(2):209-13.

PMID:
15751611
18.

The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.

Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, Mittelman M, Lupo H, Lanir N, Brenner B, Shpilberg O, Seligsohn U.

Blood. 1997 Oct 1;90(7):2654-9.

19.

Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

Guevara-Aguirre J, Rosenbloom AL, Guevara-Aguirre M, Yariz K, Saavedra J, Baumbach L, Shuster J.

Growth Horm IGF Res. 2007 Jun;17(3):261-4. Epub 2007 Mar 9.

PMID:
17350302
20.

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.

Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC.

Clin Endocrinol (Oxf). 2012 May;76(5):706-12. doi: 10.1111/j.1365-2265.2011.04304.x.

PMID:
22117696
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk