Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 40 Records) |
| Query Trace: Cowden Syndrome[original query] |
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| Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Journal of medical genetics 2011 Aug 48 (8): 505-12. Pilarski Robert, Stephens Julie A, Noss Ryan, Fisher James L, Prior Thomas |
| Frequency of germline PTEN mutations in differentiated thyroid cancer. Thyroid : official journal of the American Thyroid Association 2011 May 21 (5): 505-10. Nagy Rebecca, Ganapathi Shireen, Comeras Ilene, Peterson Charissa, Orloff Mohammed, Porter Kyle, Eng Charis, Ringel Matthew D, Kloos Richard |
| Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. American journal of human genetics 2012 Dec . Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C |
| Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance Program. Clinical and translational gastroenterology 2012 12 2 (11): e5. Levi Zohar, Baris Hagit N, Kedar Inbal, Niv Yaron, Geller Alex, Gal Eyal, Gingold Rachel, Morgenstern Sara, Baruch Yacov, Leach Brandie Heald, Bronner Mary P, Eng Char |
| Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes. The Journal of clinical endocrinology and metabolism 2012 Dec 97 (12): E2320-7. Ngeow Joanne, He Xin, Mester Jessica L, Lei Junying, Romigh Todd, Orloff Mohammed S, Milas Mira, Eng Char |
| PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? The oncologist 2013 18 (10): 1083-90. Mester Jessica L, Moore Rebekah A, Eng Char |
| An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing. British journal of cancer 2013 Feb 108 (2): 438-41. Sandell S, Schuit R J L, Bunyan D |
| Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2014 Jun 32 (17): 1818-24. Ngeow Joanne, Stanuch Kim, Mester Jessica L, Barnholtz-Sloan Jill S, Eng Char |
| Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1316-21. Ngeow Joanne, Ni Ying, Tohme Rita, Song Chen Fu, Bebek Gurkan, Eng Char |
| Elevation of methylated DNA in KILLIN/PTEN in the plasma of patients with thyroid and/or breast cancer. OncoTargets and therapy 2014 7 2085-92. Ng Enders K, Shin Vivian Y, Leung Candy P, Chan Vivian W, Law Fian B, Siu Man T, Lang Brian H, Ma Edmond S, Kwong A |
| Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey. Genetic testing and molecular biomarkers 2015 Jul 19 (7): 353-8. Ekinci Sadiye, Ilgin-Ruhi Hatice, Dogan Mutlu, Gursoy Semin, Dizbay-Sak Serpil, Demirkazik Ahmet, Tukun Ajl |
| Association of specific PTEN/10q haplotypes with endometrial cancer phenotypes in African-American and European American women. Gynecologic oncology 2015 Aug 138 (2): 434-40. Sutton Jazmine, Orloff Mohammed S, Michener Chad, Chiesa-Vottero Andres, Prayson Richard, Nowacki Amy S, Eng Char |
| Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocrine-related cancer 2015 Apr 22 (2): 121-30. Ni Ying, Seballos Spencer, Ganapathi Shireen, Gurin Danielle, Fletcher Benjamin, Ngeow Joanne, Nagy Rebecca, Kloos Richard T, Ringel Matthew D, LaFramboise Thomas, Eng Char |
| KLLN epigenotype-phenotype associations in Cowden syndrome. European journal of human genetics : EJHG 2015 Feb . Nizialek Emily A, Mester Jessica L, Dhiman Vineet K, Smiraglia Dominic J, Eng Char |
| Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast cancer research and treatment 2015 Dec . Ngeow Joanne, Sesock Kaitlin, Eng Char |
| Germline PARP4 mutations in patients with primary thyroid and breast cancers. Endocrine-related cancer 2015 Dec . Ikeda Yuji, Kiyotani Kazuma, Yew Poh Yin, Kato Taigo, Tamura Kenji, Yap Kai Lee, Nielsen Sarah, Mester Jessica, Eng Charis, Nakamura Yusuke, Grogan Raymon Hu |
| Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. Methods in molecular biology (Clifton, N.J.) 2016 1388 63-73. Ngeow Joanne, Eng Char |
| Circulating levels of PTEN and KLLN in papillary thyroid carcinoma: can they be considered as novel diagnostic biomarkers? Endocrine 2017 7 57 (3): 428-435. Razavi S Adeleh, Modarressi Mohammad Hossein, Yaghmaei Parichehr, Tavangar S Mohammad, Hedayati Meh |
| Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. PLoS genetics 2018 4 14 (4): e1007352. Yehia Lamis, Ni Ying, Sesock Kaitlin, Niazi Farshad, Fletcher Benjamin, Chen Hannah Jin Lian, LaFramboise Thomas, Eng Char |
| Exome sequencing in 51 early onset non-familial CRC cases. Molecular genetics & genomic medicine 2019 2 7 (5): e605. Thutkawkorapin Jessada, Lindblom Annika, Tham Em |
| Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region. Cancer cell international 2019 12 19 334. Siraj Abdul K, Parvathareddy Sandeep Kumar, Bu Rong, Iqbal Kaleem, Siraj Sarah, Masoodi Tariq, Concepcion Rica Micaela, Ghazwani Laila Omar, AlBadawi Ismail, Al-Dayel Fouad, Al-Kuraya Khawla |
| Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome. BMC cancer 2019 10 19 (1): 1014. Matsubayashi Hiroyuki, Higashigawa Satomi, Kiyozumi Yoshimi, Horiuchi Yasue, Hirashima Yasuyuki, Kado Nobuhiro, Abe Masato, Ohishi Takuma, Ohnami Sumiko, Urakami Kenichi, Yamaguchi K |
| Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. American journal of human genetics 2019 10 105 (4): 813-821. Yehia Lamis, Ni Ying, Feng Fang, Seyfi Marilyn, Sadler Tammy, Frazier Thomas W, Eng Char |
| WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. The New England journal of medicine 2020 5 382 (22): 2103-2116. Lee Yu-Ru, Yehia Lamis, Kishikawa Takahiro, Ni Ying, Leach Brandie, Zhang Jinfang, Panch Nivedita, Liu Jing, Wei Wenyi, Eng Charis, Pandolfi Pier Pao |
| Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2020 11 39 (6): 599-607. Bhai Pratibha, Kulshrestha Samarth, Puri Ratna D, Bijarnia Mahay Sunita, Saxena Renu, Verma Ishwar Chand |
| High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
| Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome. International journal of clinical oncology 2022 2 27 (4): 639-647. Teramae Satoshi, Muguruma Naoki, Okamoto Koichi, Oseto Kumiko, Nishikawa Ryutaro, Tanoue Takayuki, Hirata Keiji, Yanai Shunichi, Matsumoto Takayuki, Shimizu Seiji, Miwa Jun, Sasaki Yu, Yashima Kazuo, Ohnuma Hiroyuki, Sato Yasushi, Kitayama Yoshitaka, Ohda Yoshio, Yamauchi Atsushi, Sanomura Yoji, Tanaka Kumiko, Kubo Yoshiaki, Ishikawa Hideki, Bando Yoshimi, Sonoda Tomoko, Takayama Tetsu |
| Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature. BMC medical genomics 2023 7 16 (1): 166. Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bign |
| A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations. Annals of dermatology 2023 4 35 (2): 146-150. Lee Jongeun, Shin Dong Min, Oh Se Jin, Park Ji-Hye, Lee Dongyo |
| Counselling and management of women with genetic predisposition to gynaecological cancers. European journal of obstetrics, gynecology, and reproductive biology 2024 1 294 44-48. Naushabah Malik, Banchhita Sa |
- Page last reviewed:Feb 1, 2024
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