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Items: 1 to 20 of 39

1.

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. doi: 10.3349/ymj.2017.58.3.527.

2.

Classical and non-classical causes of GH deficiency in the paediatric age.

Di Iorgi N, Morana G, Allegri AE, Napoli F, Gastaldi R, Calcagno A, Patti G, Loche S, Maghnie M.

Best Pract Res Clin Endocrinol Metab. 2016 Dec;30(6):705-736. doi: 10.1016/j.beem.2016.11.008. Epub 2016 Nov 24. Review.

PMID:
27974186
3.

Genetic causes of isolated and combined pituitary hormone deficiency.

Giordano M.

Best Pract Res Clin Endocrinol Metab. 2016 Dec;30(6):679-691. doi: 10.1016/j.beem.2016.09.005. Epub 2016 Oct 15. Review.

PMID:
27974184
4.

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Endocr J. 2017 Feb 27;64(2):229-234. doi: 10.1507/endocrj.EJ16-0361. Epub 2016 Nov 22.

5.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158.

PMID:
27820671
6.

Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt.

Ziemnicka K, Gut P, Gołąb M, Dworacki G, Wrotkowska E, Stajgis M, Katulska K, Rabska-Pietrzak B, Obara-Moszyńska M, Niedziela M, Budny B, Kałużna M, Waśko R, Ruchała M.

Arch Immunol Ther Exp (Warsz). 2016 Dec;64(6):485-495. Epub 2016 Mar 12.

7.

Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.

Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A.

Horm Metab Res. 2016 Dec;48(12):822-827. Epub 2016 Oct 18.

PMID:
27756091
8.

LHX4 Gene Alterations: Patient Report and Review of the Literature.

Gucev Z, Tasic V, Plaseska-Karanfilska D, Konstantinova MK, Stamatova A, Dimishkovska M, Laban N, Polenakovic M.

Pediatr Endocrinol Rev. 2016 Jun;13(4):749-55. Review.

PMID:
27464418
9.

A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.

Shimada A, Takagi M, Nagashima Y, Miyai K, Hasegawa Y.

Horm Res Paediatr. 2016;86(1):62-9. doi: 10.1159/000446280. Epub 2016 Jun 15.

PMID:
27299576
10.

Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty.

Dwyer AA, Jayasena CN, Quinton R.

Minerva Endocrinol. 2016 Jun;41(2):188-95. Review.

PMID:
27213784
11.

All Hormone-Producing Cell Types of the Pituitary Intermediate and Anterior Lobes Derive From Prop1-Expressing Progenitors.

Davis SW, Keisler JL, Pérez-Millán MI, Schade V, Camper SA.

Endocrinology. 2016 Apr;157(4):1385-96. doi: 10.1210/en.2015-1862. Epub 2016 Jan 26.

12.

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T.

Endocr J. 2016 Apr 25;63(4):405-10. doi: 10.1507/endocrj.EJ15-0409. Epub 2016 Jan 15.

13.

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.

Castinetti F, Reynaud R, Saveanu A, Jullien N, Quentien MH, Rochette C, Barlier A, Enjalbert A, Brue T.

Eur J Endocrinol. 2016 Jun;174(6):R239-47. doi: 10.1530/EJE-15-1095. Epub 2016 Jan 5. Review.

14.

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.

Ziemnicka K, Budny B, Drobnik K, Baszko-Błaszyk D, Stajgis M, Katulska K, Waśko R, Wrotkowska E, Słomski R, Ruchała M.

J Appl Genet. 2016 Aug;57(3):373-81. doi: 10.1007/s13353-015-0328-z. Epub 2015 Nov 25.

15.

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG.

Eur J Endocrinol. 2016 Apr;174(4):R145-73. doi: 10.1530/EJE-15-0937. Epub 2015 Nov 17. Review.

16.

Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage.

Braslavsky D, Grinspon RP, Ballerini MG, Bedecarrás P, Loreti N, Bastida G, Ropelato MG, Keselman A, Campo S, Rey RA, Bergadá I.

Horm Res Paediatr. 2015;84(5):289-97. doi: 10.1159/000439051. Epub 2015 Sep 11.

PMID:
26355950
17.

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD.

Clin Endocrinol (Oxf). 2015 Dec;83(6):849-60. doi: 10.1111/cen.12849. Epub 2015 Aug 6. Review.

PMID:
26147833
18.

Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients.

Mao J, Xu H, Wang X, Huang B, Liu Z, Zhen J, Nie M, Min L, Wu X.

Hum Reprod. 2015 Sep;30(9):2031-7. doi: 10.1093/humrep/dev158. Epub 2015 Jul 3.

PMID:
26141714
19.

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. doi: 10.1159/000433468. Epub 2015 Jun 24.

PMID:
26111865
20.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J.

Eur J Hum Genet. 2016 Mar;24(3):415-20. doi: 10.1038/ejhg.2015.126. Epub 2015 Jun 10.

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