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Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

Familial cancer, 2014-12, Vol.13 (4), p.637-644

2014

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Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families

Human mutation, 2021-05, Vol.42 (5), p.520-529

2021

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Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer

The Journal of urology, 2012-12, Vol.188 (6), p.2063-2071

2012

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Germline PTEN Mutation Cowden Syndrome: An Underappreciated Form of Hereditary Kidney Cancer

The Journal of urology, 2013-12, Vol.190 (6), p.1990-1998

2013

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Diagnosis and management of BHD-associated kidney cancer

Familial cancer, 2013-09, Vol.12 (3), p.397-402

2013

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

Genes chromosomes & cancer, 2017-06, Vol.56 (6), p.484-492

2017

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CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors

Urology (Ridgewood, N.J.), 2019-02, Vol.124, p.91-97

2019

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A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.490-497

2023

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Birt–Hogg–Dubé: beyond the clinical manifestations

Familial cancer, 2013-03, Vol.12 (1), p.97-99

Middelton, Lindsay A.

2013

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Abstract 3179: Germline deletion of FH in hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Cancer research (Chicago, Ill.), 2016-07, Vol.76 (14_Supplement), p.3179-3179

2016

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Erratum to: Birt–Hogg–Dubé: beyond the clinical manifestations

Familial cancer, 2013-09, Vol.12 (3), p.403-403

Middelton, Lindsay A.

2013

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Efficacy of Intralesional Botulinum Toxin A for Treatment of Painful Cutaneous Leiomyomas: A Randomized Clinical Trial

JAMA dermatology (Chicago, Ill.), 2015-10, Vol.151 (10), p.1096

2015

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Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

Cell, 1995-06, Vol.81 (6), p.935-946

1995

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The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis

The Journal of pediatrics, 1998-11, Vol.133 (5), p.629-633

1998

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Cover, Volume 42, Issue 5

Human mutation, 2021-05, Vol.42 (5), p.i-i

2021

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Abstract 4708: Comprehensive analysis of 71 VHL germline deletions and rearrangements

Cancer research (Chicago, Ill.), 2020-08, Vol.80 (16_Supplement), p.4708-4708

2020

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Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of hereditary Leiomyomatosis and renal cell cancer (HLRCC)

Human molecular genetics, 2023-11, Vol.32 (22), p.3135-3145

2023

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A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma

Molecular cancer research, 2013-09, Vol.11 (9), p.1061-1071

2013

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Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome

JAMA dermatology (Chicago, Ill.), 2015-07, Vol.151 (7), p.770

2015

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Hereditary Leiomyomatosis and Renal Cell Cancer: A Syndrome Associated With an Aggressive Form of Inherited Renal Cancer

The Journal of urology, 2007-06, Vol.177 (6), p.2074-2080

2007

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Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs)

Surgery, 2007-12, Vol.142 (6), p.814-818

2007

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PD46-07 GENOTYPE-PHENOTYPE ASSOCIATIONS IN VON HIPPEL-LINDAU

The Journal of urology, 2018-04, Vol.199 (4), p.e893-e894

2018

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Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine tumors (PNETs)

Surgery, 2007-12, Vol.142 (6), p.814-818.e2

2007

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Genes and Inheritance

Cancer nursing, 2001-10, Vol.24 (5), p.357-369

2001

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CE TEST: Genes and Inheritance

Cancer nursing, 2001-10, Vol.24 (5), p.369-369

2001

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Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families

Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer

Germline PTEN Mutation Cowden Syndrome: An Underappreciated Form of Hereditary Kidney Cancer

Diagnosis and management of BHD-associated kidney cancer

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

CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

Birt–Hogg–Dubé: beyond the clinical manifestations

Abstract 3179: Germline deletion of FH in hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Erratum to: Birt–Hogg–Dubé: beyond the clinical manifestations

Efficacy of Intralesional Botulinum Toxin A for Treatment of Painful Cutaneous Leiomyomas: A Randomized Clinical Trial

Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis

Cover, Volume 42, Issue 5

Abstract 4708: Comprehensive analysis of 71 VHL germline deletions and rearrangements

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of hereditary Leiomyomatosis and renal cell cancer (HLRCC)

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma

Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome

Hereditary Leiomyomatosis and Renal Cell Cancer: A Syndrome Associated With an Aggressive Form of Inherited Renal Cancer

Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs)

PD46-07 GENOTYPE-PHENOTYPE ASSOCIATIONS IN VON HIPPEL-LINDAU

Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine tumors (PNETs)

Genes and Inheritance

CE TEST: Genes and Inheritance

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