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Items: 1 to 20 of 151

1.

Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.

Matyakhina L, Freedman RJ, Bourdeau I, Wei MH, Stergiopoulos SG, Chidakel A, Walther M, Abu-Asab M, Tsokos M, Keil M, Toro J, Linehan WM, Stratakis CA.

J Clin Endocrinol Metab. 2005 Jun;90(6):3773-9. Epub 2005 Mar 1.

PMID:
15741255
2.
3.

Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.

Stewart L, Glenn GM, Stratton P, Goldstein AM, Merino MJ, Tucker MA, Linehan WM, Toro JR.

Arch Dermatol. 2008 Dec;144(12):1584-92. doi: 10.1001/archdermatol.2008.517.

4.

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR.

J Med Genet. 2006 Jan;43(1):18-27. Epub 2005 Jun 3.

6.

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

Chen YB, Brannon AR, Toubaji A, Dudas ME, Won HH, Al-Ahmadie HA, Fine SW, Gopalan A, Frizzell N, Voss MH, Russo P, Berger MF, Tickoo SK, Reuter VE.

Am J Surg Pathol. 2014 May;38(5):627-37. doi: 10.1097/PAS.0000000000000163.

7.

Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.

Llamas-Velasco M, Requena L, Kutzner H, Schärer L, Rütten A, Hantschke M, Paredes BE, Mentzel T.

J Cutan Pathol. 2014 Nov;41(11):859-65. doi: 10.1111/cup.12396. Epub 2014 Nov 4.

PMID:
25292446
8.

Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.

Joseph NM, Solomon DA, Frizzell N, Rabban JT, Zaloudek C, Garg K.

Am J Surg Pathol. 2015 Nov;39(11):1529-39. doi: 10.1097/PAS.0000000000000520.

PMID:
26457356
9.

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V.

Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010.

PMID:
18503824
10.

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP.

Hum Mol Genet. 2003 Jun 1;12(11):1241-52.

PMID:
12761039
11.

Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma.

Vocke CD, Ricketts CJ, Merino MJ, Srinivasan R, Metwalli AR, Middelton LA, Peterson J, Yang Y, Linehan WM.

Genes Chromosomes Cancer. 2017 Jun;56(6):484-492. doi: 10.1002/gcc.22452. Epub 2017 Mar 31.

PMID:
28196407
12.

The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.

Merino MJ, Torres-Cabala C, Pinto P, Linehan WM.

Am J Surg Pathol. 2007 Oct;31(10):1578-85.

PMID:
17895761
13.

Clonal composition of human adrenocortical neoplasms.

Beuschlein F, Reincke M, Karl M, Travis WD, Jaursch-Hancke C, Abdelhamid S, Chrousos GP, Allolio B.

Cancer Res. 1994 Sep 15;54(18):4927-32.

14.

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R.

Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2.

PMID:
20091131
15.

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

Harrison WJ, Andrici J, Maclean F, Madadi-Ghahan R, Farzin M, Sioson L, Toon CW, Clarkson A, Watson N, Pickett J, Field M, Crook A, Tucker K, Goodwin A, Anderson L, Srinivasan B, Grossmann P, Martinek P, Ondič O, Hes O, Trpkov K, Clifton-Bligh RJ, Dwight T, Gill AJ.

Am J Surg Pathol. 2016 May;40(5):599-607. doi: 10.1097/PAS.0000000000000573.

16.

ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.

Louiset E, Gobet F, Libé R, Horvath A, Renouf S, Cariou J, Rothenbuhler A, Bertherat J, Clauser E, Grise P, Stratakis CA, Kuhn JM, Lefebvre H.

J Clin Endocrinol Metab. 2010 Jan;95(1):18-24. doi: 10.1210/jc.2009-0881. Epub 2009 Nov 13.

17.

17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.

Bourdeau I, Matyakhina L, Stergiopoulos SG, Sandrini F, Boikos S, Stratakis CA.

J Clin Endocrinol Metab. 2006 Sep;91(9):3626-32. Epub 2006 Jun 13.

PMID:
16772351
18.

Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors.

Hsiao HP, Kirschner LS, Bourdeau I, Keil MF, Boikos SA, Verma S, Robinson-White AJ, Nesterova M, Lacroix A, Stratakis CA.

J Clin Endocrinol Metab. 2009 Aug;94(8):2930-7. doi: 10.1210/jc.2009-0516. Epub 2009 Jun 9.

19.

Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.

Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA.

Cancer Res. 2003 Sep 1;63(17):5308-19.

20.

Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).

Buelow B, Cohen J, Nagymanyoki Z, Frizzell N, Joseph NM, McCalmont T, Garg K.

Am J Surg Pathol. 2016 Jul;40(7):982-8. doi: 10.1097/PAS.0000000000000626.

PMID:
26945337

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