129 related articles for article (PubMed ID: 23657145)
1. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
Fukami M; Iso M; Sato N; Igarashi M; Seo M; Kazukawa I; Kinoshita E; Dateki S; Ogata T
Endocr J; 2013; 60(8):1013-20. PubMed ID: 23657145
[TBL] [Abstract][Full Text] [Related]
2. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Izumi Y; Suzuki E; Kanzaki S; Yatsuga S; Kinjo S; Igarashi M; Maruyama T; Sano S; Horikawa R; Sato N; Nakabayashi K; Hata K; Umezawa A; Ogata T; Yoshimura Y; Fukami M
Fertil Steril; 2014 Oct; 102(4):1130-1136.e3. PubMed ID: 25064402
[TBL] [Abstract][Full Text] [Related]
3. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T; Avbelj M; McCabe MJ; Romero CJ; Dwyer AA; Tommiska J; Sykiotis GP; Gregory LC; Diaczok D; Tziaferi V; Elting MW; Padidela R; Plummer L; Martin C; Feng B; Zhang C; Zhou QY; Chen H; Mohammadi M; Quinton R; Sidis Y; Radovick S; Dattani MT; Pitteloud N
J Clin Endocrinol Metab; 2012 Apr; 97(4):E694-9. PubMed ID: 22319038
[TBL] [Abstract][Full Text] [Related]
4. A nonsense variant in
Erbaş İM; Paketçi A; Acar S; Kotan LD; Demir K; Abacı A; Böber E
J Pediatr Endocrinol Metab; 2020 Dec; 33(12):1613-1615. PubMed ID: 32853167
[TBL] [Abstract][Full Text] [Related]
5. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Dateki S; Fukami M; Uematsu A; Kaji M; Iso M; Ono M; Mizota M; Yokoya S; Motomura K; Kinoshita E; Moriuchi H; Ogata T
J Clin Endocrinol Metab; 2010 Aug; 95(8):4043-7. PubMed ID: 20534763
[TBL] [Abstract][Full Text] [Related]
6. 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
J Clin Endocrinol Metab; 2006 Oct; 91(10):4006-12. PubMed ID: 16882753
[TBL] [Abstract][Full Text] [Related]
7. [Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].
Qin M; Gong C; Qi Z; Wu D; Liu M; Gu Y; Cao B; Li W; Liang X
Zhonghua Er Ke Za Zhi; 2014 Dec; 52(12):942-7. PubMed ID: 25619354
[TBL] [Abstract][Full Text] [Related]
8. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N; Meysing A; Quinton R; Acierno JS; Dwyer AA; Plummer L; Fliers E; Boepple P; Hayes F; Seminara S; Hughes VA; Ma J; Bouloux P; Mohammadi M; Crowley WF
Mol Cell Endocrinol; 2006 Jul; 254-255():60-9. PubMed ID: 16764984
[TBL] [Abstract][Full Text] [Related]
9. Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
Avbelj Stefanija M; Kotnik P; Bratanič N; Žerjav Tanšek M; Bertok S; Bratina N; Battelino T; Trebušak Podkrajšek K
Horm Res Paediatr; 2015; 84(3):153-8. PubMed ID: 26111865
[TBL] [Abstract][Full Text] [Related]
10. 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
J Clin Endocrinol Metab; 2007 Mar; 92(3):1155-8. PubMed ID: 17200176
[TBL] [Abstract][Full Text] [Related]
11. Clinical Case Seminar. Peculiar prolactinomas in patients with pituitary developmental gene mutations: from an adult endocrinologist perspective.
Doknic M; Pekic S; Civcic M; Popovic V
Hormones (Athens); 2012; 11(2):189-98. PubMed ID: 22801565
[TBL] [Abstract][Full Text] [Related]
12. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Fang Q; Benedetti AF; Ma Q; Gregory L; Li JZ; Dattani M; Sadeghi-Nejad A; Arnhold IJ; Mendonca BB; Camper SA; Carvalho LR
Clin Endocrinol (Oxf); 2016 Sep; 85(3):408-14. PubMed ID: 27000987
[TBL] [Abstract][Full Text] [Related]
13. 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
Fertil Steril; 2015 Nov; 104(5):1261-7.e1. PubMed ID: 26277103
[TBL] [Abstract][Full Text] [Related]
14. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
Choi JH; Jung CW; Kang E; Kim YM; Heo SH; Lee BH; Kim GH; Yoo HW
Yonsei Med J; 2017 May; 58(3):527-532. PubMed ID: 28332357
[TBL] [Abstract][Full Text] [Related]
15. Combined pituitary hormone deficiency in a patient with an
Sano S; Masunaga Y; Kato F; Fujisawa Y; Saitsu H; Ogata T
Clin Pediatr Endocrinol; 2022; 31(3):172-177. PubMed ID: 35928375
[TBL] [Abstract][Full Text] [Related]
16. 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; Baptista MT; de Castro M; Mendonca BB; Latronico AC
Clin Endocrinol (Oxf); 2010 Mar; 72(3):371-6. PubMed ID: 19489874
[TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
Rainbow LA; Rees SA; Shaikh MG; Shaw NJ; Cole T; Barrett TG; Kirk JM
Clin Endocrinol (Oxf); 2005 Feb; 62(2):163-8. PubMed ID: 15670191
[TBL] [Abstract][Full Text] [Related]
18. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N; Katsumata N; Kagami M; Hasegawa T; Hori N; Kawakita S; Minowada S; Shimotsuka A; Shishiba Y; Yokozawa M; Yasuda T; Nagasaki K; Hasegawa D; Hasegawa Y; Tachibana K; Naiki Y; Horikawa R; Tanaka T; Ogata T
J Clin Endocrinol Metab; 2004 Mar; 89(3):1079-88. PubMed ID: 15001591
[TBL] [Abstract][Full Text] [Related]
19. Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
Akkuş G; Kotan LD; Durmaz E; Mengen E; Turan İ; Ulubay A; Gürbüz F; Yüksel B; Tetiker T; Topaloğlu AK
J Clin Res Pediatr Endocrinol; 2017 Jun; 9(2):95-100. PubMed ID: 28008864
[TBL] [Abstract][Full Text] [Related]
20. Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Men M; Wu J; Zhao Y; Xing X; Jiang F; Zheng R; Li JD
Fertil Steril; 2020 Jan; 113(1):158-166. PubMed ID: 31748124
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]