Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 23

1.

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

Angelousi A, Fencl F, Faucz FR, Malikova J, Sumnik Z, Lebl J, Stratakis CA.

Hormones (Athens). 2015 Jul-Sep;14(3):447-50. doi: 10.14310/horm.2002.1578.

2.

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Salpea P, Stratakis CA.

Mol Cell Endocrinol. 2014 Apr 5;386(1-2):85-91. doi: 10.1016/j.mce.2013.08.022. Epub 2013 Sep 5. Review.

3.

Molecular genetics of adrenocortical tumor formation and potential pharmacologic targets.

Rauschecker M, Stratakis CA.

Minerva Endocrinol. 2012 Jun;37(2):133-9. Review.

4.

Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.

Joseph AW, Shoemaker AH, Germain-Lee EL.

J Clin Endocrinol Metab. 2011 Jul;96(7):2065-73. doi: 10.1210/jc.2011-0013. Epub 2011 Apr 27.

5.

Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells.

Crane JL, Shamblott MJ, Axelman J, Hsu S, Levine MA, Germain-Lee EL.

Clin Transl Sci. 2009 Oct;2(5):355-60. doi: 10.1111/j.1752-8062.2009.00148.x.

6.

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA.

Eur J Hum Genet. 2008 Oct;16(10):1245-53. doi: 10.1038/ejhg.2008.85. Epub 2008 Apr 23.

7.

Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis.

Boikos SA, Stratakis CA.

Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R80-7. Review.

8.

Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.

Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, Cutting GR.

J Clin Endocrinol Metab. 2007 Oct;92(10):3941-8. Epub 2007 Jul 24.

PMID:
17652219
9.

Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex).

Stratakis CA, Matyakhina L, Courkoutsakis N, Patronas N, Voutetakis A, Stergiopoulos S, Bossis I, Carney JA.

Front Horm Res. 2004;32:253-64. Review.

PMID:
15281351
10.

Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?

Gunther DF, Bourdeau I, Matyakhina L, Cassarino D, Kleiner DE, Griffin K, Courkoutsakis N, Abu-Asab M, Tsokos M, Keil M, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2004 Jul;89(7):3173-82.

PMID:
15240590
11.

What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?

Stefan M, Nicholls RD.

Curr Diab Rep. 2004 Apr;4(2):143-50. Review.

PMID:
15035975
12.

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.

Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL.

Hum Mol Genet. 2003 Aug 15;12(16):1981-93.

14.

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA.

Nat Genet. 2000 Sep;26(1):89-92.

PMID:
10973256
15.

Use of aromatase inhibitors in precocious puberty.

Feuillan P, Merke D, Leschek EW, Cutler GB Jr.

Endocr Relat Cancer. 1999 Jun;6(2):303-6. Review.

16.

The impact of genomic imprinting for neurobehavioral and developmental disorders.

Nicholls RD.

J Clin Invest. 2000 Feb;105(4):413-8. Review. No abstract available.

17.
18.

Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation.

Riminucci M, Fisher LW, Shenker A, Spiegel AM, Bianco P, Gehron Robey P.

Am J Pathol. 1997 Dec;151(6):1587-600.

19.

Ligand-independent hormone secretion.

Laue L.

Curr Opin Pediatr. 1995 Aug;7(4):434-9. Review.

PMID:
7581649
20.

New genetic findings in old syndromes.

Parks JS, Pfäffle RW, Brown MR.

Acta Paediatr Suppl. 1992 Sep;383:73-7; discussion 78. No abstract available.

PMID:
1360852
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk