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Items: 1 to 20 of 104

1.

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

Nyström HF, Saveanu A, Barbosa EJ, Barlier A, Enjalbert A, Glad C, Palming J, Johannsson G, Brue T.

Pituitary. 2011 Sep;14(3):208-16. doi: 10.1007/s11102-010-0278-8.

PMID:
21132537
2.

PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.

de Graaff LC, Argente J, Veenma DC, Drent ML, Uitterlinden AG, Hokken-Koelega AC.

Horm Res Paediatr. 2010;73(5):363-71. doi: 10.1159/000308169. Epub 2010 Apr 14.

PMID:
20389107
3.

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

Baş F, Uyguner ZO, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Şiklar Z, Öcal G, Darcan Ş, Gökşen D, Topaloğlu AK, Yüksel B, Özbek MN, Ercan O, Evliyaoğlu O, Çetinkaya S, Şen Y, Atabek E, Toksoy G, Aydin BK, Bundak R.

Endocrine. 2015 Jun;49(2):479-91. doi: 10.1007/s12020-014-0498-1. Epub 2014 Dec 11.

PMID:
25500790
4.

[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].

Halász Z.

Orv Hetil. 2011 Feb 6;152(6):221-32. doi: 10.1556/OH.2011.29032. Hungarian.

PMID:
21278027
7.

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
8.

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT.

Clin Endocrinol (Oxf). 2005 Jul;63(1):10-8.

PMID:
15963055
9.

[Congenital hypopituitarism: when should transcription factor gene screenings be performed?].

Reynaud R, Barlier A, Chadli-Chaieb M, Saveanu A, Simonin G, Enjalbert A, Brue T.

Presse Med. 2004 Mar 27;33(6):400-5. Review. French.

PMID:
15105786
10.

Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.

Maghnie M, Ghirardello S, Genovese E.

J Endocrinol Invest. 2004 May;27(5):496-509. Review.

PMID:
15279086
11.

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
12.

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

Lemos MC, Gomes L, Bastos M, Leite V, Limbert E, Carvalho D, Bacelar C, Monteiro M, Fonseca F, Agapito A, Castro JJ, Regateiro FJ, Carvalheiro M.

Clin Endocrinol (Oxf). 2006 Oct;65(4):479-85.

PMID:
16984240
13.

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.

14.

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.

PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24.

15.

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Brue T, Barlier A.

J Clin Endocrinol Metab. 2006 Sep;91(9):3329-36. Epub 2006 May 30.

PMID:
16735499
16.
17.

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L.

Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. doi: 10.1111/cen.12706. Epub 2015 Feb 6.

PMID:
25557026
18.

Hypopituitarism oddities: congenital causes.

Kelberman D, Dattani MT.

Horm Res. 2007;68 Suppl 5:138-44. doi: 10.1159/000110610. Epub 2007 Dec 10. Review.

PMID:
18174732
19.

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.

McLennan K, Jeske Y, Cotterill A, Cowley D, Penfold J, Jones T, Howard N, Thomsett M, Choong C.

Clin Endocrinol (Oxf). 2003 Jun;58(6):785-94.

PMID:
12780757
20.

A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.

Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, Brauner R, Kaffel N, Albarel F, Guedj AM, El Kholy M, Amin M, Enjalbert A, Barlier A, Brue T.

J Clin Endocrinol Metab. 2008 Jul;93(7):2790-9. doi: 10.1210/jc.2007-2389. Epub 2008 Apr 29.

PMID:
18445675

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