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Results: 14

1.

Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.

Valdes-Socin H, Rubio Almanza M, Tomé Fernández-Ladreda M, Debray FG, Bours V, Beckers A.

Front Endocrinol (Lausanne). 2014 Jul 9;5:109. doi: 10.3389/fendo.2014.00109. eCollection 2014. Review.

PMID:
25071724
[PubMed]
Free PMC Article
2.

Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.

Garcia-Filion P, Borchert M.

Surv Ophthalmol. 2013 Nov-Dec;58(6):610-9. doi: 10.1016/j.survophthal.2013.02.004. Review.

PMID:
24160732
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Identification of HESX1 mutations in Kallmann syndrome.

Newbern K, Natrajan N, Kim HG, Chorich LP, Halvorson LM, Cameron RS, Layman LC.

Fertil Steril. 2013 Jun;99(7):1831-7. doi: 10.1016/j.fertnstert.2013.01.149. Epub 2013 Mar 1.

PMID:
23465708
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera JP, Dattani MT.

J Clin Endocrinol Metab. 2013 Mar;98(3):E547-57. doi: 10.1210/jc.2012-3067. Epub 2013 Feb 5.

PMID:
23386640
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation.

Pham LL, Lemaire P, Harroche A, Souberbielle JC, Brauner R.

PLoS One. 2013;8(1):e53189. doi: 10.1371/journal.pone.0053189. Epub 2013 Jan 7.

PMID:
23308160
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations.

Garcia-Filion P, Borchert M.

Curr Treat Options Neurol. 2013 Feb;15(1):78-89. doi: 10.1007/s11940-012-0209-2.

PMID:
23233151
[PubMed]
Free PMC Article
7.

Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases.

Oellrich A, Hoehndorf R, Gkoutos GV, Rebholz-Schuhmann D.

PLoS One. 2012;7(6):e38937. doi: 10.1371/journal.pone.0038937. Epub 2012 Jun 14.

PMID:
22719993
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.

Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH, Hayashizaki Y, Arnhold IJ, Mendonça BB, Brue T, Camper SA.

Mol Cell Endocrinol. 2010 Jul 8;323(1):4-19. doi: 10.1016/j.mce.2009.12.012. Epub 2009 Dec 16. Review.

PMID:
20025935
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The molecular basis of hypopituitarism.

Romero CJ, Nesi-França S, Radovick S.

Trends Endocrinol Metab. 2009 Dec;20(10):506-16. doi: 10.1016/j.tem.2009.06.005. Epub 2009 Oct 23. Review.

PMID:
19854060
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT.

Endocr Rev. 2009 Dec;30(7):790-829. doi: 10.1210/er.2009-0008. Epub 2009 Oct 16. Review.

PMID:
19837867
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Septo-optic dysplasia.

Webb EA, Dattani MT.

Eur J Hum Genet. 2010 Apr;18(4):393-7. doi: 10.1038/ejhg.2009.125. Epub 2009 Jul 22. Review.

PMID:
19623216
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors.

Garcia-Filion P, Fink C, Geffner ME, Borchert M.

Acta Ophthalmol. 2010 Aug;88(5):527-34. doi: 10.1111/j.1755-3768.2008.01450.x. Epub 2008 Dec 24.

PMID:
19141149
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. Epub 2008 Nov 6.

PMID:
19093031
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

Diaczok D, Romero C, Zunich J, Marshall I, Radovick S.

J Clin Endocrinol Metab. 2008 Nov;93(11):4351-9. doi: 10.1210/jc.2008-1189. Epub 2008 Aug 26.

PMID:
18728160
[PubMed - indexed for MEDLINE]
Free PMC Article

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