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Items: 1 to 20 of 109

1.

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT.

J Clin Endocrinol Metab. 2007 Feb;92(2):691-7.

PMID:
17148560
2.

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS.

Hum Mol Genet. 2001 Jan 1;10(1):39-45.

3.

A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.

Durmaz B, Cogulu O, Dizdarer C, Stobbe H, Pfaeffle R, Ozkinay F.

J Pediatr Endocrinol Metab. 2011;24(9-10):779-82.

PMID:
22145475
4.

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.

Corneli G, Vivenza D, Prodam F, Di Dio G, Vottero A, Rapa A, Bellone S, Bernasconi S, Bona G.

J Endocrinol Invest. 2008 Aug;31(8):689-93.

PMID:
18852528
5.
6.

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.

PMID:
26111865
7.

Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.

Cohen RN, Cohen LE, Botero D, Yu C, Sagar A, Jurkiewicz M, Radovick S.

J Clin Endocrinol Metab. 2003 Oct;88(10):4832-9.

PMID:
14557462
8.

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K.

J Clin Endocrinol Metab. 2003 Jan;88(1):45-50.

PMID:
12519827
9.

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.

Sajedi E, Gaston-Massuet C, Signore M, Andoniadou CL, Kelberman D, Castro S, Etchevers HC, Gerrelli D, Dattani MT, Martinez-Barbera JP.

Dis Model Mech. 2008 Nov-Dec;1(4-5):241-54. doi: 10.1242/dmm.000711.

10.

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

McCabe MJ, Alatzoglou KS, Dattani MT.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):115-24. doi: 10.1016/j.beem.2010.06.008. Review.

PMID:
21396578
11.

Molecular genetics of septo-optic dysplasia.

Dattani ML, Martinez-Barbera J, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC.

Horm Res. 2000;53 Suppl 1:26-33. Review.

PMID:
10895039
12.

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJ, Dattani MT.

J Clin Invest. 2003 Oct;112(8):1192-201.

13.

Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

Brickman JM, Clements M, Tyrell R, McNay D, Woods K, Warner J, Stewart A, Beddington RS, Dattani M.

Development. 2001 Dec;128(24):5189-99.

14.

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Mårtensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC.

Nat Genet. 1998 Jun;19(2):125-33.

PMID:
9620767
15.

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S.

J Clin Endocrinol Metab. 2006 Nov;91(11):4528-36.

PMID:
16940453
16.

[Natural course of septo-optic dysplasia: retrospective analysis of 20 cases].

León-Gonzalez M, García-Peñas JJ, Puertas-Bordallo D, López-Pino MA, Argente-Oliver J, Cantarín-Extremera V.

Rev Neurol. 2012 Mar 16;54(6):321-31. Review. Spanish.

17.

Genetics of septo-optic dysplasia.

Kelberman D, Dattani MT.

Pituitary. 2007;10(4):393-407. Review.

PMID:
17587179
18.

Panhypopituitarism: genetic versus acquired etiological factors.

Coya R, Vela A, Pérez de Nanclares G, Rica I, Castaño L, Busturia MA, Martul P; GEDPIT group..

J Pediatr Endocrinol Metab. 2007 Jan;20(1):27-36.

PMID:
17315526
19.

New insights into septo-optic dysplasia.

Saranac L, Gucev Z.

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):123-7. Review.

PMID:
24802313
20.

Structural pituitary abnormalities associated with CHARGE syndrome.

Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT.

J Clin Endocrinol Metab. 2013 Apr;98(4):E737-43. doi: 10.1210/jc.2012-3467.

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