Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: Syndrome and DICER1[original query] |
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Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. The Journal of clinical endocrinology and metabolism 2016 Jul jc20161328. de Kock Leanne, Bah Ismaël, Revil Timothée, Bérubé Pierre, Wu Mona K, Sabbaghian Nelly, Priest John R, Ragoussis Jiannis, Foulkes William |
Macrocephaly associated with the DICER1 syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul . Khan Nicholas E, Bauer Andrew J, Doros Leslie, Schultz Kris Ann P, Decastro Rosamma M, Harney Laura A, Kase Ron G, Carr Ann G, Harris Anne K, Williams Gretchen M, Dehner Louis P, Messinger Yoav H, Stewart Douglas |
Ovarian Sex Cord-Stromal Tumors. Journal of oncology practice 2016 10 12 (10): 940-946. Schultz Kris Ann P, Harris Anne K, Schneider Dominik T, Young Robert H, Brown Jubilee, Gershenson David M, Dehner Louis P, Hill D Ashley, Messinger Yoav H, Frazier A Linds |
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. Pediatric nephrology (Berlin, Germany) 2018 9 33 (12): 2281-2288. Khan Nicholas E, Ling Alexander, Raske Molly E, Harney Laura A, Carr Ann G, Field Amanda, Harris Anne K, Williams Gretchen M, Dehner Louis P, Messinger Yoav H, Hill D Ashley, Schultz Kris Ann P, Stewart Douglas |
Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO). International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2018 Aug . Mirkovic Jelena, Dong Fei, Sholl Lynette M, Garcia Elizabeth, Lindeman Neal, MacConaill Laura, Crum Christopher P, Nucci Marisa R, McCluggage W Glenn, Howitt Brooke |
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta neuropathologica 2018 6 136 (2): 327-337. Koelsche Christian, Mynarek Martin, Schrimpf Daniel, Bertero Luca, Serrano Jonathan, Sahm Felix, Reuss David E, Hou Yanghao, Baumhoer Daniel, Vokuhl Christian, Flucke Uta, Petersen Iver, Brück Wolfgang, Rutkowski Stefan, Zambrano Sandro Casavilca, Garcia Leon Juan Luis, Diaz Coronado Rosdali Yesenia, Gessler Manfred, Tirado Oscar M, Mora Jaume, Alonso Javier, Garcia Del Muro Xavier, Esteller Manel, Sturm Dominik, Ecker Jonas, Milde Till, Pfister Stefan M, Korshunov Andrey, Snuderl Matija, Mechtersheimer Gunhild, Schüller Ulrich, Jones David T W, von Deimling Andre |
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 1 24 (7): 1594-1603. Diets Illja J, Waanders Esmé, Ligtenberg Marjolijn J, van Bladel Diede A G, Kamping Eveline J, Hoogerbrugge Peter M, Hopman Saskia, Olderode-Berends Maran J, Gerkes Erica H, Koolen David A, Marcelis Carlo, Santen Gijs W, van Belzen Martine J, Mordaunt Dylan, McGregor Lesley, Thompson Elizabeth, Kattamis Antonis, Pastorczak Agata, Mlynarski Wojciech, Ilencikova Denisa, van Silfhout Anneke Vulto-, Gardeitchik Thatjana, de Bont Eveline S, Loeffen Jan, Wagner Anja, Mensenkamp Arjen R, Kuiper Roland P, Hoogerbrugge Nicoline, Jongmans Marjolijn |
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role? Frontiers in endocrinology 2020 7 11 433. Martínez de LaPiscina Idoia, Hernández-Ramírez Laura C, Portillo Nancy, Gómez-Gila Ana L, Urrutia Inés, Martínez-Salazar Rosa, García-Castaño Alejandro, Aguayo Aníbal, Rica Itxaso, Gaztambide Sonia, Faucz Fabio R, Keil Margaret F, Lodish Maya B, Quezado Martha, Pankratz Nathan, Chittiboina Prashant, Lane John, Kay Denise M, Mills James L, Castaño Luis, Stratakis Constantine |
GABPA-dependent down-regulation of DICER1 in follicular thyroid tumours. Endocrine-related cancer 2020 3 27 (5): 295-308. Paulsson Johan O, Wang Na, Gao Jiwei, Stenman Adam, Zedenius Jan, Mu Ninni, Lui Weng-Onn, Larsson Catharina, Juhlin C Christof |
Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform. Virchows Archiv : an international journal of pathology 2021 9 480 (2): 293-302. Ghossein Charles A, Dogan Snjezana, Farhat Nada, Landa Iñigo, Xu B |
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 |
High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome. PloS one 2021 3 16 (3): e0248430. Moiseev Ivan Sergeevich, Tcvetkov Nikolay Yurevich, Barkhatov Ildar Munerovich, Barabanshikova Maria Vladimirovna, Bug Dmitrii Sergeevich, Petuhova Natalya Vitalievna, Tishkov Artem Valerievich, Bakin Evgenyi Alexandrovich, Izmailova Ekaterina Andreevna, Shakirova Alena Igorevna, Kulagin Alexandr Dmitrievich, Morozova Elena Vladislavov |
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype. JAMA network open 2021 2 4 (2): e210112. Mirshahi Uyenlinh L, Kim Jung, Best Ana F, Chen Zongming E, Hu Ying, Haley Jeremy S, Golden Alicia, Stahl Richard, Manickam Kandamurugu, Carr Ann G, Harney Laura A, Field Amanda, Hatton Jessica, Schultz Kris Ann P, Bauer Andrew J, Hill D Ashley, Rosenberg Philip S, Murray Michael F, Carey David J, Stewart Douglas |
Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients. Cancer 2021 Oct . Diaz Coronado Rosdali Y, Mynarek Martin, Koelsche Christian, Mora Alferez Pamela, Casavilca Zambrano Sandro, Wachtel Aptowitzer Antonio, Sahm Felix, von Deimling Andreas, Schüller Ulrich, Spohn Michael, Sturm Dominik, Pfister Stefan M, Morales La Madrid Andres, Sernaque Quintana Raymundo, Sarria Bardales Gustavo, Negreiros Chinchihuara Tatiana, Ojeda Medina Luis, Garcia-Corrochano Medina Pamela, Campos Sanchez Danny A, Ponce Farfan Jimena, Rutkowski Stefan, Garcia Leon Juan |
Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology. The Journal of clinical endocrinology and metabolism 2021 1 106 (4): 968-977. Chong Anne-Sophie, Nikiforov Yuri E, Condello Vincenzo, Wald Abigail I, Nikiforova Marina N, Foulkes William D, Rivera Barba |
An institutional experience with DICER1 mutated thyroid nodules-evaluating the cytomorphology and molecular phenotype. Journal of the American Society of Cytopathology 2022 8 11 (6): 335-344. Lee Soo Hyun, Vadlamudi Charitha, Zhao Qing, Yilmaz Osman, Cerda Sand |
Pineal Parenchymal Tumor of Intermediate Differentiation and DICER1 Syndrome: A Case Report. Journal of pediatric hematology/oncology 2022 8 . Gupte Avanti, Sood Sandeep, Kupsky William J, Altinok Deniz, Miller Steven, Roy Sumita, Bhambhani Kan |
Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis. Journal of personalized medicine 2022 6 12 (6): . Huang Yu-Shu, Fang Ting-Hsuan, Kung Belle, Chen Chia-Hsia |
Complete Tracheal Ring Deformity, Recurrent Pneumothoraces and Pleuropulmonary Blastoma in a Child: Coincidence or Common Genetic Cause? Klinische Padiatrie 2022 2 234 (5): 311-313. Thiemann Inga, Hoppen Thomas, Laur Martin, Ohlert Manuel, Lobitz Stephan, Schwerk Nicolaus, Dingemann Jens, Länger Florian, Grychtol Ruth Margarethe, Nüßlein Thom |
Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli-Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation. Journal of pediatric endocrinology & metabolism : JPEM 2023 6 . Aleida Rivera-Hernández, Mónica Madrigal-González, Luz Mejía-Carmona, Isis Martínez-López, María Guadalupe Pérez-Hernández, Joaquín Bernal-Manjarrez, Sergio Luna-Vidal, Sarahí Reta-Guerrero, Marco Antonio Rodríguez-Florido, Lourdes Balcázar-Hernánd |
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- Page last updated:Apr 22, 2024
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