Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family-Reference-Cited by-同舟云学术

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family

Published:2011-08-11 Issue:11 Volume:50 Page:922-929
ISSN:1045-2257
Container-title:Genes, Chromosomes and Cancer
language:en
Short-container-title:Genes Chromosom. Cancer

Author:

Cascón Alberto,Huarte-Mendicoa Carlos Vázquez,Javier Leandro-García L.,Letón Rocío,Suela Javier,Santana Alfredo,Costa Mauro Boronat,Comino-Méndez Iñaki,Landa Iñigo,Sánchez Lydia,Rodríguez-Antona Cristina,Cigudosa Juan C.,Robledo Mercedes

Publisher

Wiley

Subject

Cancer Research,Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/gcc.20911/fullpdf

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2. Gross Rearrangement Breakpoint Database (GRaBD);Abeysinghe;Hum Mutat,2004

3. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis;Aretz;J Med Genet,2005

4. Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome;Bradley;J Intern Med,2005

5. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome;Carpten;Nat Genet,2002

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1. Molecular and Clinical Spectrum of Primary Hyperparathyroidism;Endocrine Reviews;2023-03-24

2. A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report;Diagnostic Pathology;2022-09-24

3. A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism;Endocrine;2021-11-02

4. The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature;Case Reports in Endocrinology;2021-05-20

5. Familial Hyperparathyroidism;Frontiers in Endocrinology;2021-02-25