Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 39 Records) |
| Query Trace: Hamartoma and PTEN[original query] |
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| Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. BMC cancer 2014 14 661. Forte Giovanna, Grossi Valentina, Celestini Valentina, Lucisano Giuseppe, Scardapane Marco, Varvara Dora, Patruno Margherita, Bagnulo Rosanna, Loconte Daria, Giunti Laura, Petracca Antonio, Giglio Sabrina, Genuardi Maurizio, Pellegrini Fabio, Resta Nicoletta, Simone Cristia |
| Breast cancer risk and clinical implications for germline PTEN mutation carriers. Breast cancer research and treatment 2015 Dec . Ngeow Joanne, Sesock Kaitlin, Eng Char |
| Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. The Journal of allergy and clinical immunology 2016 Jun . Chen Hannah H, Händel Norman, Ngeow Joanne, Muller James, Hühn Michael, Yang Huei-Ting, Heindl Mario, Berbers Roos-Marijn, Hegazy Ahmed N, Kionke Janina, Yehia Lamis, Sack Ulrich, Bläser Frank, Rensing-Ehl Anne, Reifenberger Julia, Keith Julia, Travis Simon, Merkenschlager Andreas, Kiess Wieland, Wittekind Christian, Walker Lisa, Ehl Stephan, Aretz Stefan, Dustin Michael L, Eng Charis, Powrie Fiona, Uhlig Holm |
| Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. Methods in molecular biology (Clifton, N.J.) 2016 1388 63-73. Ngeow Joanne, Eng Char |
| The microbiome in PTEN hamartoma tumor syndrome. Endocrine-related cancer 2017 12 25 (3): 233-243. Byrd Victoria, Getz Ted, Padmanabhan Roshan, Arora Hans, Eng Char |
| Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood. Brain & development 2018 5 40 (8): 678-684. Kato Kohji, Mizuno Seiji, Inaba Mie, Fukumura Shinobu, Kurahashi Naoko, Maruyama Koichi, Ieda Daisuke, Ohashi Kei, Hori Ikumi, Negishi Yutaka, Hattori Ayako, Saitoh Shin |
| 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 |
| Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes. Journal of biomolecular structure & dynamics 2018 4 37 (7): 1766-1782. Smith Iris Nira, Thacker Stetson, Jaini Ritika, Eng Char |
| Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. American journal of medical genetics. Part A 2019 May . Golas Monika M, Auber Bernd, Ripperger Tim, Pabst Brigitte, Schmidt Gunnar, Morlot Michel, Diebold Uta, Steinemann Doris, Schlegelberger Brigitte, Morlot Susan |
| 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 |
| 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 |
| Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. American journal of medical genetics. Part A 2019 10 179 (12): 2517-2531. Klein Steven D, Nguyen Dzung C, Bhakta Viraj, Wong Derek, Chang Vivian Y, Davidson Tom B, Martinez-Agosto Julian |
| Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children? Cells 2020 7 9 (7): . Plamper Michaela, Born Mark, Gohlke Bettina, Schreiner Felix, Schulte Sandra, Splittstößer Vera, Woelfle Joach |
| 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 |
| An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships. American journal of human genetics 2020 5 106 (6): 818-829. Mighell Taylor L, Thacker Stetson, Fombonne Eric, Eng Charis, O'Roak Brian |
| Clinical and molecular aspects of PTEN mutations in 10 pediatric patients. Annals of human genetics 2020 3 84 (4): 324-330. Isik Esra, Simsir Ozguc Semih, Solmaz Asli Ece, Onay Huseyin, Atik Tahir, Aykut Ayca, Durmaz Asude, Cogulu Ozgur, Ozkinay Fer |
| Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. JAMA network open 2020 Jan 3 (1): e1920415. Yehia Lamis, Seyfi Marilyn, Niestroj Lisa-Marie, Padmanabhan Roshan, Ni Ying, Frazier Thomas W, Lal Dennis, Eng Char |
| Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome. JCO precision oncology 2021 7 5 . Jia Margaret, Sangwan Naseer, Tzeng Alice, Eng Char |
| Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants. American journal of human genetics 2022 08 109 (8): 1520-1533. Brewer Takae, Yehia Lamis, Bazeley Peter, Eng Char |
| Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors. Genes 2022 4 13 (4): . Disciglio Vittoria, Sanese Paola, Fasano Candida, Lotesoriere Claudio, Valentini Anna Maria, Forte Giovanna, Lepore Signorile Martina, De Marco Katia, Grossi Valentina, Lolli Ivan, Cariola Filomena, Simone Cristia |
| Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. Journal of the American Academy of Dermatology 2022 2 . Morgan Frederick C, Yehia Lamis, McDonald Christine, Martinez-Agosto Julian A, Hardan Antonio Y, Tamburro Joan, Sahin Mustafa, Bayart Cheryl, Eng Charis, |
| Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort. European journal of medical genetics 2022 10 65 (12): 104632. Hendricks Linda A J, Hoogerbrugge Nicoline, Venselaar Hanka, Aretz Stefan, Spier Isabel, Legius Eric, Brems Hilde, de Putter Robin, Claes Kathleen B M, Evans D Gareth, Woodward Emma R, Genuardi Maurizio, Brugnoletti Fulvia, van Ierland Yvette, Dijke Kim, Tham Emma, Tesi Bianca, Schuurs-Hoeijmakers Janneke H M, Branchaud Maud, Salvador Hector, Jahn Arne, Schnaiter Simon, Anastasiadou Violetta Christophidou, Brunet Joan, Oliveira Carla, Roht Laura, Blatnik Ana, Irmejs Arvids, , Mensenkamp Arjen R, Vos Janet |
| Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome. NPJ genomic medicine 2023 7 8 (1): 14. Takae Brewer, Lamis Yehia, Peter Bazeley, Charis E |
| 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 |
| The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome. HGG advances 2023 5 4 (3): 100199. Ruipeng Wei, Lamis Yehia, Ying Ni, Charis E |
| 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 |
| The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers. Cancer research 2024 9 OF1-OF12. Gilman Plitt, Takae Brewer, Lamis Yehia, Laura Rabinowitz, Christopher C Griffith, Charis E |
| Prevalence of the major thyroid cancer-associated syndromes in the United States. medRxiv : the preprint server for health sciences 2024 12 . Samantha L White, Taylor Jamil, Caitlin Bell, Lauren Fishbein, Bryan R Haugen, Christopher R Gignoux, Nikita Pozdey |
| Cancer and disease profiles for PTEN pathogenic variants in Japanese population. Journal of human genetics 2024 12 . Yuki Kanazashi, Yoshiaki Usui, Yusuke Iwasaki, Shota Sasagawa, Mikiko Endo, Mitsuyo Yamaguchi, Todd A Johnson, Kazuhiro Maejima, Kouya Shiraishi, Takashi Kohno, Teruhiko Yoshida, Kokichi Sugano, Yoshinori Murakami, Yoichiro Kamatani, Naomichi Matsumoto, Koichi Matsuda, Yukihide Momozawa, Hidewaki Nakaga |
| Classification of PTEN germline non-truncating variants: a new approach to interpretation. Journal of medical genetics 2024 10 . Henri Margot, Natalie Jones, Thibaut Matis, Dominique Bonneau, Tiffany Busa, Françoise Bonnet, Solene Conrad, Louise Crivelli, Pauline Monin, Sandra Fert-Ferrer, Isabelle Mortemousque, Sabine Raad, Didier Lacombe, Frédéric Caux, Nicolas Sevenet, Virginie Bubien, Michel Longy, |
- Page last reviewed:Feb 1, 2024
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