Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 194 Records) |
Query Trace: Neurofibromatosis[original query] |
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A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1. American journal of translational research 2022 8 14 (7): 5139-5145. He Qi, Jiang Jingjing, Yang Jiao, Zeng Junjie, Zhang Huan, Zhang Zhengzho |
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing. Scientific reports 2022 6 12 (1): 9543. Teranishi Yu, Miyawaki Satoru, Nakatomi Hirofumi, Ohara Kenta, Hongo Hiroki, Dofuku Shogo, Okano Atsushi, Takayanagi Shunsaku, Ota Takahiro, Yoshimura Jun, Qu Wei, Mitsui Jun, Morishita Shinichi, Tsuji Shoji, Saito Nobuhi |
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. JCO precision oncology 2022 5 6 e2100540. Tong Schuyler, Devine W Patrick, Shieh Joseph |
Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas. Journal of the European Academy of Dermatology and Venereology : JEADV 2022 5 36 (9): 1632-1640. Plana-Pla A, García B, Munera-Campos M, Catasus N, Serra Arenas E, Blanco I, Castellanos Perez E, Bielsa I, |
Genetic and histopathological associations with outcome in pediatric pilocytic astrocytoma. Journal of neurosurgery. Pediatrics 2022 2 1-9. Cler Samuel J, Skidmore Alexander, Yahanda Alexander T, Mackey Kimberly, Rubin Joshua B, Cluster Andrew, Perkins Stephanie, Gauvain Karen, King Allison A, Limbrick David D, McEvoy Sean, Park Tae Sung, Smyth Matthew D, Mian Ali Y, Chicoine Michael R, Dahiya Sonika, Strahle Jennifer |
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency. Journal of medical genetics 2023 9 . Léa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq, Christelle Dufour, Erell Guillerm, Etienne Rouleau, Pascale Varlet, Saïma Zili, Dominique Vidaud, Jacques Gri |
Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy. Journal of neuro-oncology 2023 9 . Archis R Bhandarkar, Shaan Bhandarkar, Dusica Babovic-Vuksanovic, Ian F Parney, Robert J Spinn |
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations. medRxiv : the preprint server for health sciences 2023 8 . Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C Bogus, Maria Bonanni, Anna Raper, Staci Kallish, Marylyn D Ritchie, , , Katherine L Nathanson, Theodore G Driv |
Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1. Ideggyogyaszati szemle 2023 7 76 (7-8): 270-274. Evlice Ahmet, Bi?gin At?l, Koç Fil |
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers. Neurology. Genetics 2023 7 8 (4): e200003. Alice F Bewley, Titilope M Akinwe, Tychele N Turner, David H Gutma |
Radiogenomics in NF2-Associated Schwannomatosis (Neurofibromatosis Type II): Exploratory Data Analysis. Studies in health technology and informatics 2023 6 305 588-591. Gleb Danilov, Elizaveta Makashova, Mikhail Galkin, Kristina Karandashe |
NF1 Gene Inactivation Acts as Tumor Driver in RET/RAS Negative Medullary Thyroid Carcinomas. European journal of endocrinology 2023 5 . Raffaele Ciampi, Teresa Ramone, Cristina Romei, Roberta Casalini, Antonio Matrone, Alessandro Prete, Carla Gambale, Simone Paolo Minardi, Giovanni Caparezza, Marco Alessandro Pierotti, Liborio Torregrossa, Clara Ugolini, Gabriele Materazzi, Rossella Elis |
New insights into the molecular basis of spinal neurofibromatosis type 1. European journal of human genetics : EJHG 2023 5 . Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, Roberta Bordoni, Rosina Paterra, Arianna Borghi, Marinella Volontè, Cristina Battaglia, Veronica Saletti, Claudia Cesaretti, Federica Natacci, Mariarosa A B Melone, Marica Eoli, Paola Ri |
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European journal of human genetics : EJHG 2023 4 . Zanoni Paolo, Steindl Katharina, Sticht Heinrich, Oneda Beatrice, Joset Pascal, Ivanovski Ivan, Horn Anselm H C, Cabello Elena M, Laube Julia, Zweier Markus, Baumer Alessandra, Rauch Anita, Khan Nad |
Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants. Balkan medical journal 2023 4 . Marija Gjorgjievska, Gjorgji Bozhinovski, Elena Sukarova-Angelovska, Mirjana Kocova, Lejla Muaremoska Kanzoska, Dijana Plaseska-Karanfils |
Trametinib in Patients With NF1-, GNAQ-, or GNA11-Mutant Tumors: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols S1 and S2. JCO precision oncology 2023 4 7 e2200421. Wisinski Kari B, Flamand Yael, Wilson Melissa A, Luke Jason J, Tawbi Hussein A, Hong Fangxin, Mitchell Edith P, Zwiebel James A, Chen Helen, Gray Robert J, Li Shuli, McShane Lisa M, Rubinstein Lawrence V, Patton David, Williams P Mickey, Hamilton Stanley R, Behrens Robert J, Pennington Kathryn P, Conley Barbara A, Arteaga Carlos L, Harris Lyndsay N, O'Dwyer Peter J, Chen Alice P, Flaherty Keith |
Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. Diagnostics (Basel, Switzerland) 2023 4 13 (7): . de Rivas Marta Orejudo, Gabás Javier Mateo, Cabeza Miguel Ángel Torralba, Floría Olivia Esteban, Latorre Raquel Herrero, Moscarda Eva Núñez, Clavería Julia Aramburu, Rivasés Guillermo Pérez, Puyuelo Javier Asca |
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm. JAMA network open 2023 2 6 (2): e2254157. Bakhuizen Jette J, Hopman Saskia M J, Bosscha Machteld I, Dommering Charlotte J, van den Heuvel-Eibrink Marry M, Hol Janna A, Kester Lennart A, Koudijs Marco J, Langenberg Karin P S, Loeffen Jan L C, van der Lugt Jasper, Moll Annette C, van Noesel Max M, Smetsers Stephanie E, de Vos-Kerkhof Evelien, Merks Johannes H M, Kuiper Roland P, Jongmans Marjolijn C |
Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1. Metabolites 2023 2 13 (2): . Modica Roberta, Altieri Barbara, D'Aniello Francesco, Benevento Elio, Cannavale Giuseppe, Minotta Roberto, Liccardi Alessia, Colao Annamaria, Faggiano Antongiul |
Long-term outcomes of stereotactic radiosurgery for intracranial schwannoma in neurofibromatosis type 2: a genetic analysis perspective. Journal of neuro-oncology 2023 12 . Yuki Shinya, Yu Teranishi, Hirotaka Hasegawa, Satoru Miyawaki, Takehiro Sugiyama, Masahiro Shin, Mariko Kawashima, Motoyuki Umekawa, Atsuto Katano, Hirofumi Nakatomi, Nobuhito Sai |
Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort. Journal of neurology 2023 12 . Beiyao Zhu, Tingting Zheng, Wei Wang, Yihui Gu, Chengjiang Wei, Qingfeng Li, Zhichao Wa |
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup. British journal of haematology 2023 11 . Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flot |
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants. Pediatric neurology 2023 10 149 69-74. Yasar Bildirici, Ayca Kocaaga, Cefa Nil Karademir-Arslan, Sevgi Yimeniciog |
Somatic Mutation of the Non-Muscle-Invasive Bladder Cancer Associated with Early Recurrence. Diagnostics (Basel, Switzerland) 2023 10 13 (20): . Seong Hyeon Yu, Sung Sun Kim, Hyungki Lee, Shinseung Kim, Taek Won Ka |
Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients. The British journal of dermatology 2023 10 . Laurence Pacot, Audrey Sabbagh, Pierre Sohier, Djihad Hadjadj, Manuela Ye, Anne Boland-Auge, Delphine Bacq-Daian, Ingrid Laurendeau, Audrey Briand-Suleau, Jean-François Deleuze, Raphaël Margueron, Michel Vidaud, Salah Ferkal, Béatrice Parfait, Dominique Vidaud, , Eric Pasmant, Pierre Wolkenste |
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort. Cancers 2023 1 15 (1): . Paterra Rosina, Bettinaglio Paola, Borghi Arianna, Mangano Eleonora, Tritto Viviana, Cesaretti Claudia, Schettino Carla, Bordoni Roberta, Santoro Claudia, Avignone Sabrina, Moscatelli Marco, Melone Mariarosa Anna Beatrice, Saletti Veronica, Piluso Giulio, Natacci Federica, Riva Paola, Eoli Mari |
Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma. Journal of the Endocrine Society 2024 4 8 (6): bvae059. Luciana Audi Castroneves, Flavia Regina Rotea Mangone, Antonio Marcondes Lerario, Ana Maria da Cunha Mercante, Rafael Loch Batista, Luciana Rodrigues Carvalho Barros, Carla Vaz Ferreira, Evelin Cavalcante Farias, Felipe Augusto Brasileiro Vanderlei, Ana Luiza Maia, Maria Aparecida Nagai, Alexander Augusto Lima Jorge, Ana Oliveira Ho |
NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor. JCO precision oncology 2024 4 8 e2300597. Henry de Traux de Wardin, Josephine K Dermawan, Fabio Vanoli, Samuel C Jiang, Samuel Singer, Ping Chi, William Tap, Leonard H Wexler, Cristina R Antones |
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype. Frontiers in genetics 2024 4 15 1331278. Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krau |
Genetic characterization and mutational profiling of foramen magnum meningiomas: a multi-institutional study. Journal of neurosurgery 2024 1 1-7. Lingyang Hua, Majd Alkhatib, Shingo Fujio, Boshr Alhasan, Sylvia Herold, Silke Zeugner, Amir Zolal, Mido M Hijazi, Victoria E Clark, Hiroaki Wakimoto, Ganesh M Shankar, Priscilla K Brastianos, Frederick G Barker, Daniel P Cahill, Leihao Ren, Ilker Y Eyüpoglu, Ye Gong, Gabriele Schackert, Tareq A Jurat |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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