+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Identification of mutations in the fumarate hydratase gene in the multiple cutaneous and uterine leiomyomatosis and renal carcinoma syndrome



Identification of mutations in the fumarate hydratase gene in the multiple cutaneous and uterine leiomyomatosis and renal carcinoma syndrome



Clinical Science (London) 104(Suppl. 49): 1P




(PDF emailed within 0-6 h: $19.90)

Accession: 035076452

Download citation: RISBibTeXText

DOI: 10.1042/cs104001p


Related references

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Human Molecular Genetics 12(11): 1241-1252, 2003

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. Journal of Molecular Diagnostics 7(4): 437-443, 2005

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. Journal of Cutaneous Pathology 41(11): 859-865, 2015

Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. American Journal of Dermatopathology 38(12): 887-891, 2016

Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer. Annales de Dermatologie et de Venereologie 132(3): 300, 2005

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). American Journal of Surgical Pathology 40(7): 982-988, 2017

Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene. Clinical and Experimental Dermatology 43(3): 334-335, 2017

Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. Archives of Dermatology 144(12): 1584-1592, 2008

Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. American Journal of Surgical Pathology 40(7): 865-875, 2017

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clinical and Experimental Dermatology 31(1): 118-121, 2005

Multiple cutaneous and uterine leiomyomata identification of germline fumarate hydratase mutations and evidence for a founder splicing mutation. Journal of Investigative Dermatology 122(3): A26, 2004

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Experimental Dermatology 15(9): 735-741, 2006

Mutations in fumarate hydratase cause hereditary leiomyomatosis and renal cell carcinoma in North American families. Proceedings of the American Association for Cancer Research Annual Meeting 44: 715, 2003

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. American Journal of Human Genetics 73(1): 95-106, 2003

Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. International Journal of Gynecological Pathology 37(3): 256-261, 2017