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Select item 109307801.

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

Linda A. J. Hendricks, Katja C. J. Verbeek, Janneke H. M. Schuurs-Hoeijmakers, Arjen R. Mensenkamp, Hilde Brems, Robin de Putter, Violetta C. Anastasiadou, Marie-Charlotte Villy, Arne Jahn, Verena Steinke-Lange, Margherita Baldassarri, Arvids Irmejs, Mirjam M. de Jong, Thera P. Links, Edward M. Leter, Daniëlle G. M. Bosch, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Kjersti Jørgensen, Lovise Mæhle, Ana Blatnik, Joan Brunet, Esther Darder, Emma Tham, Nicoline Hoogerbrugge, Janet R. Vos

Cancers (Basel) 2024 Mar; 16(5): 953. Published online 2024 Feb 27. doi: 10.3390/cancers16050953

PMCID:: PMC10930780

Article PDF–540K

Select item 108975132.

Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome

Darren Liu, Lamis Yehia, Andrew Dhawan, Ying Ni, Charis Eng

Cell Rep Med. 2024 Feb 20; 5(2): 101384. Published online 2024 Jan 18. doi: 10.1016/j.xcrm.2023.101384

PMCID:: PMC10897513

Article PDF–4.5M

Select item 106002663.

Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults―Secondary Publication

Tetsuji Takayama, Naoki Muguruma, Masahiro Igarashi, Shozo Ohsumi, Shiro Oka, Fumihiko Kakuta, Yoshiaki Kubo, Hideki Kumagai, Mika Sasaki, Tamotsu Sugai, Kokichi Sugano, Yuko Takeda, Hisashi Doyama, Kouji Banno, Suguru Fukahori, Yoichi Furukawa, Takahiro Horimatsu, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama

J Anus Rectum Colon. 2023; 7(4): 284–300. Published online 2023 Oct 25. doi: 10.23922/jarc.2023-028

PMCID:: PMC10600266

Article PDF–1.6M

Select item 104831204.

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

Anna Maria Caroleo, Silvia Rotulo, Emanuele Agolini, Marina Macchiaiolo, Luigi Boccuto, Manila Antonelli, Giovanna Stefania Colafati, Antonella Cacchione, Giacomina Megaro, Andrea Carai, Maria Antonietta De Ioris, Mariachiara Lodi, Assunta Tornesello, Valeria Simone, Filippo Torroni, Giuseppe Cinalli, Angela Mastronuzzi

Front Mol Neurosci. 2023; 16: 1228389. Published online 2023 Aug 24. doi: 10.3389/fnmol.2023.1228389

PMCID:: PMC10483120

Article PDF–3.2M

Select item 103229855.

Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome

Takae Brewer, Lamis Yehia, Peter Bazeley, Charis Eng

NPJ Genom Med. 2023; 8: 14. Published online 2023 Jul 5. doi: 10.1038/s41525-023-00361-0

PMCID:: PMC10322985

Article PDF–1.2M

Select item 102096666.

Thyroid pathology, a clue to PTEN hamartoma tumor syndrome

Yurimi Lee, Young Lyun Oh

J Pathol Transl Med. 2023 May; 57(3): 178–183. Published online 2023 Mar 30. doi: 10.4132/jptm.2023.03.04

PMCID:: PMC10209666

Article PDF–2.3M

Select item 101931197.

The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome

Ruipeng Wei, Lamis Yehia, Ying Ni, Charis Eng

HGG Adv. 2023 Jul 13; 4(3): 100199. Published online 2023 Apr 24. doi: 10.1016/j.xhgg.2023.100199

PMCID:: PMC10193119

Article PDF–2.2M

Select item 101177048.

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome

Holly M Hasler, Alise Murray, Kristin E Canavera, Kendra R Parris, Kim E Nichols, Lisa M Jacola

J Pediatr Neuropsychol. Author manuscript; available in PMC 2023 Apr 20.

Published in final edited form as: J Pediatr Neuropsychol. 2022 Jun; 8(2): 79–85. Published online 2022 May 18. doi: 10.1007/s40817-022-00124-2

PMCID:: PMC10117704

Article PDF–160K

Select item 98557219.

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants

Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, Roberta Zuntini, Monica Pentenero

Biomedicines. 2023 Jan; 11(1): 81. Published online 2022 Dec 29. doi: 10.3390/biomedicines11010081

PMCID:: PMC9855721

Article PDF–15M

Select item 984025010.

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

Robyn M. Busch, Thomas W. Frazier II, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng

J Neurodev Disord. 2023; 15: 3. Published online 2023 Jan 14. doi: 10.1186/s11689-022-09468-4

PMCID:: PMC9840250

Article PDF–919K

Select item 955884511.

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Siddharth Srivastava, Booil Jo, Bo Zhang, Thomas Frazier, Anne Snow Gallagher, Fleming Peck, April R Levin, Sangeeta Mondal, Zetan Li, Rajna Filip-Dhima, Gregory Geisel, Kira A Dies, Amelia Diplock, Charis Eng, Rabi Hanna, Mustafa Sahin, Antonio Hardan, the Developmental Synaptopathies Consortium

Hum Mol Genet. 2022 Oct 15; 31(20): 3393–3404. Published online 2022 May 20. doi: 10.1093/hmg/ddac111

PMCID:: PMC9558845

Article PDF–817K

Select item 954329412.

The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome

Alma Hoxhaj, Meggie M.C.M. Drissen, Janet R. Vos, Peter Bult, Ritse M. Mann, Nicoline Hoogerbrugge

Cancer. 2022 Aug 1; 128(15): 2883–2891. Published online 2022 Jun 1. doi: 10.1002/cncr.34326

PMCID:: PMC9543294

Article PDF–327K

Select item 938126013.

Penile Hair Tourniquet Syndrome (PHTS): A Case Report of a Two-Year-Old Boy

Alhareth Baarimah, Latif Dar, Rayan Dashnan, Saeed Alshahrani, Mohammed Beaiti, Khaled ALDhabaan

Case Rep Urol. 2022; 2022: 8030934. Published online 2022 Aug 9. doi: 10.1155/2022/8030934

PMCID:: PMC9381260

Article PDF–744K

Select item 888685214.

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea, Miguel Urioste, PHTS Working Group

Orphanet J Rare Dis. 2022; 17: 85. Published online 2022 Feb 28. doi: 10.1186/s13023-021-02079-7

PMCID:: PMC8886852

Article PDF–1.0M

Select item 885901715.

PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guideline

Michaela Plamper, Bettina Gohlke, Joachim Woelfle

Mol Cell Pediatr. 2022 Dec; 9: 3. Published online 2022 Feb 21. doi: 10.1186/s40348-022-00135-1

PMCID:: PMC8859017

Article PDF–1.5M

Select item 857120216.

“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”

Gerdi Tuli, Jessica Munarin, Alessandro Mussa, Diana Carli, Roberto Gastaldi, Paola Borgia, Maria Cristina Vigone, Marco Abbate, Giovanni Battista Ferrero, Luisa De Sanctis

Endocrine. 2021; 74(3): 632–637. Published online 2021 Jun 28. doi: 10.1007/s12020-021-02805-y

PMCID:: PMC8571202

Article PDF–343K

Select item 836392117.

Brain morphological analysis in PTEN hamartoma tumor syndrome

Tadashi Shiohama, Jacob Levman, Lana Vasung, Emi Takahashi

Am J Med Genet A. Author manuscript; available in PMC 2021 Aug 14.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1117–1129. Published online 2020 Mar 12. doi: 10.1002/ajmg.a.61532

PMCID:: PMC8363921

Article PDF–1.1M

Select item 835310218.

PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis

Giovanni Innella, Elena Bonora, Iria Neri, Annalucia Virdi, Alba Guglielmo, Laura Maria Pradella, Claudio Ceccarelli, Laura Benedetta Amato, Anna Lanzoni, Sara Miccoli, Giuseppe Gasparre, Roberta Zuntini, Daniela Turchetti

Front Med (Lausanne) 2021; 8: 688105. Published online 2021 Jul 27. doi: 10.3389/fmed.2021.688105

PMCID:: PMC8353102

Article PDF–908K

Select item 826882219.

PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

David D. Dragoo, Ahmed Taher, Vincenzo K. Wong, Ahmed Elsaiey, Nikita Consul, Hagar S. Mahmoud, Bilal Mujtaba, Nir Stanietzky, Khaled M. Elsayes

Cancers (Basel) 2021 Jul; 13(13): 3120. Published online 2021 Jun 22. doi: 10.3390/cancers13133120

PMCID:: PMC8268822

Article PDF–2.9M

Select item 823256720.

Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome

Margaret Jia, Naseer Sangwan, Alice Tzeng, Charis Eng

JCO Precis Oncol. 2021; 5: PO.20.00374. Published online 2021 Feb 9. doi: 10.1200/PO.20.00374

PMCID:: PMC8232567

Article PDF–643K

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