Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 165 Records) |
| Query Trace: Neurofibromatosis Type 2[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, |
| 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 |
| 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 |
| 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 |
| 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 |
| The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis. Indian journal of pathology & microbiology 2024 9 . Nesibe Kahraman-Cetin, Dilara Akin, Seda Orenay-Boyacioglu, Olcay Boyacioglu, Ibrahim Halil Erdogdu, Esin Oktay, Ibrahim Meteog |
| The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1. Neurosciences (Riyadh, Saudi Arabia) 2024 7 29 (3): 177-183. Shanshan Chen, Hongrong Cheng, Guohua Zh |
| Tunlametinib: First Approval. Drugs 2024 7 . Susan J Ke |
| [Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature]. Problemy endokrinologii 2024 5 70 (2): 53-64. A Y Lugovskaya, T A Britvin, L E Gurevich, I S Rog, L N Nefedova, I A Ilovayska |
| 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 |
| Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1. International journal of molecular sciences 2024 10 25 (19): . Ilenia Rita Cannizzaro, Mirko Treccani, Antonietta Taiani, Enrico Ambrosini, Sabrina Busciglio, Sofia Cesarini, Anita Luberto, Erika De Sensi, Barbara Moschella, Pierpacifico Gismondi, Cinzia Azzoni, Lorena Bottarelli, Giovanna Giordano, Domenico Corradi, Enrico Maria Silini, Valentina Zanatta, Federica Cennamo, Patrizia Bertolini, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Valeria Bari |
| 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
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