Works matching DE "COWDEN syndrome"

Results: 204

Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations.

Published in:

2006

By:

Sabaté, Josep M.;
Gómez, Antonio;
Torrubia, Sofía;
Blancas, Carme;
Sánchez, Gloria;
Alonso, M. C.;
Lerma, E.;
Sabaté, Josep M;
Gómez, Antonio;
Torrubia, Sofía;
Sánchez, Gloria

Publication type:

journal article

Extradural temporopolar approach for parahypothalamic hypothalamic hamartoma and use of posterior communicating artery as resection margin pointer.

Published in:

Child's Nervous System, 2015, v. 31, n. 4, p. 603, doi. 10.1007/s00381-015-2631-8

By:

Udayakumaran, Suhas;
Ayiramuthu, Parasuraman;
Panikar, Dilip

Publication type:

Article

A rare case report of the Cowden syndrome.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00039-w

By:

Mahiboob, Sayyed;
Gupta, Rajesh

Publication type:

Article

The First Familiar Case of PTEN-Related Disorder Reported in Albania.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 5, p. 559, doi. 10.5152/TurkArchPediatr.2023.23093

By:

Bali, Donjeta;
Tabaku, Mirela;
Gjikopulli, Agim;
Velmishi, Virtut;
Tocilla, Behar;
Godo, Anila;
Cullufi, Paskal

Publication type:

Article

Cowden Syndrome Complicated with Thyroid Lesion: A Pediatric Case Report.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 448, doi. 10.5152/TurkArchPediatr.2023.23013

By:

Kerkeni, Yosra;
Houidi, Senda;
Habbachi, Ghada;
Thamri, Fatma;
Meddeb, Rim;
Mrad, Ridha;
Jouini, Riadh

Publication type:

Article

A Radiological Curiosity of a Rare Diagnosis: Lhermitte-Duclos Disease.

Published in:

Asian Journal of Oncology, 2022, v. 8, n. 3, p. 136, doi. 10.1055/s-0042-1748638

By:

Bizimana, Wilson;
Koudouhonon, Rita Oze;
Igombe, Suzanne Rita Aubin;
Amarkak, Waïs A.;
Benelhosni, Khadija;
Nassar, Ittimade;
Moatassim, Nabil Billah

Publication type:

Article

Cowden syndrome complicated by a gastrointestinal stromal tumor.

Published in:

Digestive Endoscopy, 2014, v. 26, n. 5, p. 673, doi. 10.1111/den.12167

By:

Nakamura, Masanao;
Hirooka, Yoshiki;
Yamamura, Takeshi;
Yamada, Koji;
Nagura, Asuka;
Yoshimura, Toru;
Ohmiya, Naoki;
Uehara, Keisuke;
Yoshioka, Yuichiro;
Nagino, Masato;
Goto, Hidemi

Publication type:

Article

Concurrent melanoma and thyroid malignancy in a young woman. Is it genetic?

Published in:

Australasian Journal of Dermatology, 2017, v. 58, n. 4, p. 318, doi. 10.1111/ajd.12575

By:

Stewart, Thomas Jonathan;
Bova, Ron;
Spigelman, Allan;
Rosen, Robert

Publication type:

Article

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

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2017, v. 20, n. 1, p. 65, doi. 10.5223/pghn.2017.20.1.65

By:

Sun Hwa Lee;
Eell Ryoo;
Hann Tchah

Publication type:

Article

Characteristics of Small Bowel Polyps Detected in Cowden Syndrome by Capsule Endoscopy.

Published in:

Case Reports in Gastrointestinal Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/475705

By:

Saito, Keita;
Nomura, Eiki;
Sasaki, Yu;
Abe, Yasuhiko;
Kanno, Nana;
Mizumoto, Naoko;
Shibuya, Rika;
Sakuta, Kazuhiro;
Yagi, Makoto;
Yoshizawa, Kazuya;
Iwano, Daisuke;
Sato, Takeshi;
Nishise, Shoichi;
Ueno, Yoshiyuki

Publication type:

Article

Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS).

Published in:

2018

By:

Plamper, Michaela;
Schreiner, Felix;
Gohlke, Bettina;
Kionke, Janina;
Korsch, Eckard;
Kirkpatrick, James;
Born, Mark;
Aretz, Stefan;
Woelfle, Joachim

Publication type:

journal article

Frequency of Germline PTEN Mutations in Differentiated Thyroid Cancer.

Published in:

Thyroid, 2011, v. 21, n. 5, p. 505, doi. 10.1089/thy.2010.0365

By:

Nagy, Rebecca;
Ganapathi, Shireen;
Comeras, Ilene;
Peterson, Charissa;
Orloff, Mohammed;
Porter, Kyle;
Eng, Charis;
Ringel, Matthew D.;
Kloos, Richard T.

Publication type:

Article

Thyroid Pathology in PTEN-Hamartoma Tumor Syndrome: Characteristic Findings of a Distinct Entity.

Published in:

Thyroid, 2011, v. 21, n. 2, p. 135, doi. 10.1089/thy.2010.0226

By:

Anna Ray Laury;
Massimo Bongiovanni;
Jean-Christophe Tille;
Harry Kozakewich;
Vânia Nosé

Publication type:

Article

Clinical Features and Genetic Predisposition to Hereditary Nonmedullary Thyroid Cancer.

Published in:

Thyroid, 2009, v. 19, n. 12, p. 1343, doi. 10.1089/thy.2009.1607

By:

Menno R. Vriens;
Insoo Suh;
Willieford Moses;
Electron Kebebew

Publication type:

Article

Clinical findings of thyroid cancer in 288 Japanese Early soft tissue and bone metastases with raised serum thyroglobulin (Tg) in follicular and undifferentiated types.

Published in:

Archives of Hellenic Medicine / Arheia Ellenikes Iatrikes, 2013, v. 30, n. 3, p. 299

By:

T. Nakatsuji

Publication type:

Article

von Meyenburg complex (VMC) – A case report.

Published in:

Indian Journal of Medical Specialities, 2016, v. 7, n. 3, p. 132, doi. 10.1016/j.injms.2016.08.003

By:

Sharma, B.B.;
Sharma, Shweta;
Sharma, Shashi;
Sharma, Sandeep;
Ramchandran, Priya

Publication type:

Article

Exploring MRI and Mammography Lesion Features for Breast Cancer Detection in PTEN Hamartoma Tumor Syndrome.

Published in:

Cancers, 2025, v. 17, n. 5, p. 856, doi. 10.3390/cancers17050856

By:

Hoxhaj, Alma;
Milants, Annemieke;
Techanithisawat, Porjai;
Bult, Peter;
Hoogerbrugge, Nicoline;
Mann, Ritse M.

Publication type:

Article

Potentiation by Protein Synthesis Inducers of Translational Readthrough of Pathogenic Premature Termination Codons in PTEN Isoforms.

Published in:

Cancers, 2024, v. 16, n. 16, p. 2836, doi. 10.3390/cancers16162836

By:

Torices, Leire;
Nunes-Xavier, Caroline E.;
Pulido, Rafael

Publication type:

Article

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

Published in:

Cancers, 2024, v. 16, n. 5, p. 953, doi. 10.3390/cancers16050953

By:

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

Publication type:

Article

Detection and Yield of Colorectal Cancer Surveillance in Adults with PTEN Hamartoma Tumour Syndrome.

Published in:

Cancers, 2022, v. 14, n. 16, p. 4005, doi. 10.3390/cancers14164005

By:

Drissen, Meggie M. C. M.;
Vos, Janet R.;
van der Biessen-van Beek, Dorien T. J.;
van der Post, Rachel S.;
Nagtegaal, Iris D.;
van Kouwen, Mariëtte C. A.;
Bisseling, Tanya M.;
Hoogerbrugge, Nicoline

Publication type:

Article

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

Published in:

Cancers, 2021, v. 13, n. 13, p. 3120, doi. 10.3390/cancers13133120

By:

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

Publication type:

Article

Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children.

Published in:

Cancers, 2019, v. 11, n. 7, p. 975, doi. 10.3390/cancers11070975

By:

Plamper, Michaela;
Gohlke, Bettina;
Schreiner, Felix;
Woelfle, Joachim

Publication type:

Article

Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation.

Published in:

2014

By:

Ha, Duc;
Mester, Jessica;
Eng, Charis;
Farha, Samar

Publication type:

Case Study

Lhermitte-Duclos disease presenting as cognitive impairment: A case report with a seven-year follow-up.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2024, v. 30, n. 4, p. 276, doi. 10.4274/tnd.2023.09634

By:

Kılboz, Bekir Burak;
Tıraş, Raziye

Publication type:

Article

If You See It Once, You Do Not Forget: Lhermitte-Duclos Disease.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2011, v. 17, n. 4, p. 211

By:

Aktaş, Elif;
Arda, Kemal;
Çiledağ, Nazan;
Arıbaş, Bilgin Kadri;
Gülpınar, Başak

Publication type:

Article

A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report.

Published in:

2018

By:

Gruhl, Sabrina L.;
Sharma, Pankaj;
Han, Thang S.

Publication type:

journal article

A case of follicular thyroid carcinoma associated with phosphatase and tensin homologue hamartoma tumour syndrome.

Published in:

2019

By:

Esen, Ihsan;
Okdemir, Deniz

Publication type:

journal article

Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome.

Published in:

2016

By:

Waisbourd‐Zinman, Orith;
Mamula, Petar;
Piccoli, David A

Publication type:

Case Study

Gastric Polyps: A Review of Clinical, Endoscopic, and Histopathologic Features and Management Decisions.

Published in:

Gastroenterology & Hepatology, 2013, v. 9, n. 10, p. 640

By:

Islam, Rafiul Sameer;
Patel, Neal C.;
Lam-Himlin, Dora;
Nguyen, Cuong C.

Publication type:

Article

Lhermitte-Duclos Disease: A Case Report.

Published in:

Neuroradiology Journal, 2013, v. 26, n. 6, p. 655, doi. 10.1177/197140091302600608

By:

GIORGIANNI, ANDREA;
PELLEGRINO, CARLO;
DE BENEDICTIS, ALESSANDRO;
MERCURI, ANNA;
BARUZZI, FABIO;
MINOTTO, RENZO;
TABANO, ANTONIO;
BALBI, SERGIO

Publication type:

Article

Continuous Spike and Wave in Slow-Wave Sleep in a Patient With Rett Syndrome and in a Patient With Lhermitte-Duclos Syndrome and Neurofibromatosis 1.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 12, p. NP176, doi. 10.1177/0883073813509888

By:

Bhat, Sushanth;
Ming, Xue;
Dekermenjian, Rony;
Chokroverty, Sudhansu

Publication type:

Article

Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 3, p. 392, doi. 10.1177/0883073811420296

By:

Conti, Sara;
Condò, Maria;
Posar, Annio;
Mari, Francesca;
Resta, Nicoletta;
Renieri, Alessandra;
Neri, Iria;
Patrizi, Annalisa;
Parmeggiani, Antonia

Publication type:

Article

Eight years of experience with vismodegib for advanced and multiple basal cell carcinoma patients in the Netherlands: a retrospective cohort study.

Published in:

2021

By:

Verkouteren, Babette J. A.;
Wakkee, Marlies;
Reyners, An K. L.;
Nelemans, Patty;
Aarts, Maureen J. B.;
Rácz, Emőke;
Terra, Jorrit B.;
Devriese, Lot A.;
Alers, Robert-Jan;
Kapiteijn, Ellen;
van Doorn, Remco;
Bekkenk, Marcel W.;
Reinders, Marie G.H.C.;
Mosterd, Klara

Publication type:

journal article

Infiltrating medulloblastoma in a child mimicking Lhermitte--Duclos disease.

Published in:

2012

By:

Kamble, Ravindra B.;
Mathew, Subin;
Rao, Ravi M.

Publication type:

Letter

Thyroid Disease Associated with Cowden Syndrome: A Meta-Analysis.

Published in:

Laryngoscope, 2011, v. 121, n. S5, p. S280, doi. 10.1002/lary.22236

By:

Hall, Joseph E.;
Abdollahian, Davood J.;
Sinard, Robert J.

Publication type:

Article

Insular thyroid carcinoma in a patient with Cowden syndrome.

Published in:

Laryngoscope, 2010, v. 120, n. 3, p. 454, doi. 10.1002/lary.20507

By:

Diggelmann, Henry R.;
Van Daele, Douglas J.;
O'Dorisio, Thomas M.;
Hoffman, Henry T.

Publication type:

Article

Polyps and Polypoid Lesions of the Colon.

Published in:

International Journal of Surgical Pathology, 2013, v. 21, n. 3, p. 215, doi. 10.1177/1066896913481060

By:

Mansoor, Sharmeen;
Dolkar, Tsetan;
El-Fanek, Hani

Publication type:

Article

Circumscribed storiform collagenoma, an unusual tumor.

Published in:

Dermatology Online Journal, 2020, v. 26, n. 10, p. 1, doi. 10.5070/d32610050469

By:

Lira-Valero, Francisco Javier;
Carrillo-Cisneros, Eunice Rebeca;
Pulido-Díaz, Nancy;
de Jesús Quintal-Ramírez, Marissa;
Godínez-Aldrete, Liliana

Publication type:

Article

Circumscribed storiform collagenoma, an unusual tumor.

Published in:

2020

By:

Lira-Valero, Francisco Javier;
Carrillo-Cisneros, Eunice Rebeca;
Pulido-Díaz, Nancy;
de Jesús Quintal-Ramírez, Marissa;
Godínez-Aldrete, Liliana

Publication type:

Case Study

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Published in:

PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007352

By:

Yehia, Lamis;
Ni, Ying;
Sesock, Kaitlin;
Niazi, Farshad;
Fletcher, Benjamin;
Chen, Hannah JinLian;
LaFramboise, Thomas;
Eng, Charis

Publication type:

Article

Tumors of Central and Peripheral Nervous System Associated with Inherited Genetic Syndromes.

Published in:

Pediatric Neurosurgery, 2013, v. 48, n. 5, p. 271, doi. 10.1159/000351546

By:

Stefanaki, Kalliopi;
Alexiou, George A.;
Stefanaki, Christina;
Prodromou, Neofytos

Publication type:

Article

Comparative Analysis on Mammography, Ultrasound and Pathology of Patients with Mammary Hamartoma.

Published in:

Journal of Kunming Medical University / Kunming Yike Daxue Xuebao, 2015, v. 36, n. 3, p. 95

By:

WU Jian-ping;
LI kun;
LI Zhuo-lin;
DING Ying-ying

Publication type:

Article

Solitary sclerotic fibroma on the thigh.

Published in:

Archives of Craniofacial Surgery, 2020, v. 21, n. 5, p. 323, doi. 10.7181/acfs.2020.00360

By:

Ji Hoon Kim;
Chi Ho Shin;
Dong Chul Kim;
Paik, So Ya;
Lee, Chong Kun

Publication type:

Article

British Society for Investigative Dermatology Annual Meeting 2017, Hilton Deansgate Hotel, Manchester, 3-5 April 2017.

Published in:: British Journal of Dermatology, 2017, v. 176, n. 4, p. e40, doi. 10.1111/bjd.15392
Publication type:: Article

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

Published in:

Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00353

By:

Cavaillé, Mathias;
Ponelle-Chachuat, Flora;
Uhrhammer, Nancy;
Viala, Sandrine;
Gay-Bellile, Mathilde;
Privat, Maud;
Bidet, Yannick;
Bignon, Yves-Jean

Publication type:

Article

Erratum.

Published in:: 2013
Publication type:: Erratum

Cowden syndrome: review and report of a case of late diagnosis.

Published in:

International Journal of Dermatology, 2012, v. 51, n. 12, p. 1494, doi. 10.1111/j.1365-4632.2011.05140.x

By:

Mukamal, Luana V.;
Ferreira, Adriana F.;
de Moura astro Jacques, Claudio;
Amorim, Cesar A. F. L.;
Pineiro-Maceira, Juan;
Ramos-e-Silva, Marcia

Publication type:

Article

Cowden's syndrome: a clinical, immunological, and histopathological study.

Published in:

International Journal of Dermatology, 2011, v. 50, n. 5, p. 516, doi. 10.1111/j.1365-4632.2010.04669.x

By:

Amer, Mohamed;
Mostafa, Fawzia Farag;
Attwa, Enayat Mohamed;
Ibrahim, Samia

Publication type:

Article

Hereditary Hamartomatous Gastrointestinal Polyposis Syndrome.

Published in:

Acta Facultatis Medicae Naissensis, 2010, v. 27, n. 2, p. 93

By:

Živković, Vesna;
Pejović, Svetlana;
Nagorni, Aleksandar;
Petrović, Bratislav;
Petrović, Aleksandar;
Ilić, Ivan

Publication type:

Article

Laparoscopic Excision of a Symptomatic Brunneroma.

Published in:

2011

By:

Carboni, Fabio;
Valle, Mario;
Garofalo, Alfredo;
Mariantonia, Carosi

Publication type:

Case Study