Similar articles for PMID: 29146774

Year	Number of Results
1984	1
1989	1
1992	1
1996	1
2001	1
2002	1
2004	2
2005	3
2006	3
2007	3
2008	1
2009	1
2010	5
2011	3
2012	1
2013	2
2014	7
2015	3
2016	1
2017	5
2018	1
2020	1
2024	0

1

Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism.

Chakraborty PP, Bhattacharjee R, Mukhopadhyay S, Chowdhury S. Chakraborty PP, et al. Postgrad Med J. 2018 Mar;94(1109):180-181. doi: 10.1136/postgradmedj-2017-135260. Epub 2017 Nov 16. Postgrad Med J. 2018. PMID: 29146774 No abstract available.

2

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.

Trarbach EB, Teles MG, Costa EM, Abreu AP, Garmes HM, Guerra G Jr, Baptista MT, de Castro M, Mendonca BB, Latronico AC. Trarbach EB, et al. Clin Endocrinol (Oxf). 2010 Mar;72(3):371-6. doi: 10.1111/j.1365-2265.2009.03642.x. Epub 2009 May 29. Clin Endocrinol (Oxf). 2010. PMID: 19489874

3

Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC. Trarbach EB, et al. J Clin Endocrinol Metab. 2006 Oct;91(10):4006-12. doi: 10.1210/jc.2005-2793. Epub 2006 Aug 1. J Clin Endocrinol Metab. 2006. PMID: 16882753

4

Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

Hunter JD, Davis MA, Law JR. Hunter JD, et al. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):101-104. doi: 10.1515/jpem-2016-0082. J Pediatr Endocrinol Metab. 2017. PMID: 27941181

5

A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.

Xu N, Qin Y, Reindollar RH, Tho SP, McDonough PG, Layman LC. Xu N, et al. J Clin Endocrinol Metab. 2007 Mar;92(3):1155-8. doi: 10.1210/jc.2006-1183. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200176

6

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

Gonçalves C, Bastos M, Pignatelli D, Borges T, Aragüés JM, Fonseca F, Pereira BD, Socorro S, Lemos MC. Gonçalves C, et al. Fertil Steril. 2015 Nov;104(5):1261-7.e1. doi: 10.1016/j.fertnstert.2015.07.1142. Epub 2015 Aug 12. Fertil Steril. 2015. PMID: 26277103 Free article.

7

Split hand and foot malformation: ultrasound detection in the first trimester.

Lapaire O, Schiesser M, Peukert R, Holzgreve W, Tercanli S. Lapaire O, et al. Ultrasound Obstet Gynecol. 2002 Nov;20(5):511-2. doi: 10.1046/j.1469-0705.2002.00827.x. Ultrasound Obstet Gynecol. 2002. PMID: 12423492 Free article.

8

Genetics of congenital hypogonadotropic hypogonadism in Denmark.

Tommiska J, Känsäkoski J, Christiansen P, Jørgensen N, Lawaetz JG, Juul A, Raivio T. Tommiska J, et al. Eur J Med Genet. 2014 Jul;57(7):345-8. doi: 10.1016/j.ejmg.2014.04.002. Epub 2014 Apr 13. Eur J Med Genet. 2014. PMID: 24732674

9

Isolated hypogonadotropic hypogonadism with syndactyly.

Mitchell TH. Mitchell TH. Arch Intern Med. 1984 Nov;144(11):2273-4. Arch Intern Med. 1984. PMID: 6093725

10

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Hong S, et al. Hum Mol Genet. 2016 May 15;25(10):1912-1922. doi: 10.1093/hmg/ddw064. Epub 2016 Feb 29. Hum Mol Genet. 2016. PMID: 26931467 Free PMC article.

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