Literature DB >> 11332402

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

M A Parisi, M B Dinulos, K A Leppig, V P Sybert, C Eng, L Hudgins.   

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Year:  2001        PMID： 11332402      PMCID： PMC1734718          DOI： 10.1136/jmg.38.1.52

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  24 in total

1.  Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

Authors:  Joanne Ngeow; Jessica Mester; Lisa A Rybicki; Ying Ni; Mira Milas; Charis Eng
Journal:  J Clin Endocrinol Metab       Date:  2011-09-28       Impact factor: 5.958

2.  Cowden syndrome: mucocutaneous lesions as precursors of internal malignancy.

Authors:  Panagiotis Stathopoulos; Anna Raymond; Michael Esson
Journal:  Oral Maxillofac Surg       Date:  2014-04-01

3.  Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report.

Authors:  Sun Hwa Lee; Eell Ryoo; Hann Tchah
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2017-03-27

Review 4.  Familial follicular cell tumors: classification and morphological characteristics.

Authors:  Vânia Nosé
Journal:  Endocr Pathol       Date:  2010-12       Impact factor: 3.943

5.  Robotic-assisted laparoscopic partial cystectomy for symptomatic urachal hamartoma.

Authors:  Richard Shepler; Jack M Zuckerman; Dean Troyer; John B Malcolm
Journal:  Turk J Urol       Date:  2016-03

6.  Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.

Authors:  R Bhargava; K J Au Yong; N Leonard
Journal:  AJNR Am J Neuroradiol       Date:  2013-08-01       Impact factor: 3.825

Review 7.  PTEN hamartoma tumor syndromes.

Authors:  Gideon M Blumenthal; Phillip A Dennis
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

8.  Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

Authors:  Y M C Hendriks; J T C M Verhallen; J J van der Smagt; S G Kant; Y Hilhorst; L Hoefsloot; K B-M Hansson; P J C van der Straaten; H Boutkan; M H Breuning; H F A Vasen; A H J T Bröcker-Vriends
Journal:  Fam Cancer       Date:  2003       Impact factor: 2.375

Review 9.  Familial non-medullary thyroid carcinoma: an update.

Authors:  Vânia Nosé
Journal:  Endocr Pathol       Date:  2008       Impact factor: 3.943

Review 10.  Cowden syndrome: a critical review of the clinical literature.

Authors:  Robert Pilarski
Journal:  J Genet Couns       Date:  2008-10-30       Impact factor: 2.537
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