| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jyotiranjan Mallick, Sucheta Parija, Bijnya Panda, Susanta Pujahari, Satyaswarup Jen. Mechanical Ptosis in Neurofibromatosis Type 1 Heralding the Diagnosis of Right Sided Cervical Vagus Nerve Neurofibroma: A Rare Case Report. Journal of clinical and diagnostic research : JCDR. vol 10. issue 6. 2016-08-09. PMID:27504321. |
in nf1, involvement of vagus nerve can occur in the form of neurofibroma. |
2016-08-09 |
2023-08-13 |
Not clear |
| Jyotiranjan Mallick, Sucheta Parija, Bijnya Panda, Susanta Pujahari, Satyaswarup Jen. Mechanical Ptosis in Neurofibromatosis Type 1 Heralding the Diagnosis of Right Sided Cervical Vagus Nerve Neurofibroma: A Rare Case Report. Journal of clinical and diagnostic research : JCDR. vol 10. issue 6. 2016-08-09. PMID:27504321. |
a few cases of neurofibroma of thoracic vagus nerve have been reported while neurofibroma of cervical vagus nerve with nf1 is quite rare. |
2016-08-09 |
2023-08-13 |
Not clear |
| Jyotiranjan Mallick, Sucheta Parija, Bijnya Panda, Susanta Pujahari, Satyaswarup Jen. Mechanical Ptosis in Neurofibromatosis Type 1 Heralding the Diagnosis of Right Sided Cervical Vagus Nerve Neurofibroma: A Rare Case Report. Journal of clinical and diagnostic research : JCDR. vol 10. issue 6. 2016-08-09. PMID:27504321. |
he was diagnosed as having nf1 with neurofibroma of right cervical vagus nerve. |
2016-08-09 |
2023-08-13 |
Not clear |
| Hildegard Kehrer-Sawatzk. Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1. Human mutation. vol 36. issue 11. 2016-07-27. PMID:26457592. |
neurofibromatosis type 1 without neurofibromas: genotype-phenotype correlations in nf1. |
2016-07-27 |
2023-08-13 |
Not clear |
| Rachna Rath, Sheetal Kaur, Shadab Ali Baig, Punyashlok Pati, Sonalisa Saho. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I. Case reports in radiology. vol 2016. 2016-07-06. PMID:27382495. |
multifocal head and neck neurofibromas with osseous abnormalities and muscular hypoplasia in a child with neurofibromatosis: type i. neurofibromatosis type 1 (nf1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. |
2016-07-06 |
2023-08-13 |
Not clear |
| Rachna Rath, Sheetal Kaur, Shadab Ali Baig, Punyashlok Pati, Sonalisa Saho. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I. Case reports in radiology. vol 2016. 2016-07-06. PMID:27382495. |
orofacial manifestations in nf1 have been documented before but occurrence of multifocal intraosseous (io) and extraosseous (eo) neurofibromas is rare. |
2016-07-06 |
2023-08-13 |
Not clear |
| Rachna Rath, Sheetal Kaur, Shadab Ali Baig, Punyashlok Pati, Sonalisa Saho. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I. Case reports in radiology. vol 2016. 2016-07-06. PMID:27382495. |
the present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with nf1. |
2016-07-06 |
2023-08-13 |
Not clear |
| Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti, Sara Bargiacchi, Eva Trevisson, Monica Forzan, Sandra Giustini, Chiara Leoni, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Maurizio Clementi, Marco Tartaglia, Alessandro De Luc. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. European journal of human genetics : EJHG. vol 23. issue 8. 2016-04-28. PMID:25370043. |
p.arg1809cys substitution in neurofibromin is associated with a distinctive nf1 phenotype without neurofibromas. |
2016-04-28 |
2023-08-13 |
human |
| Kimberly Jett, Rosa Nguyen, Darian Arman, Patricia Birch, Harleen Chohan, Said Farschtschi, Carsten Fuensterer, Lan Kluwe, Jan M Friedman, Victor F Mautne. Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25900062. |
we investigated the relationship of the numbers of subcutaneous neurofibromas of the scalp or body to internal plexiform tumor volume in 120 nf1 patients who had undergone whole body magnetic resonance imaging (mri). |
2016-03-17 |
2023-08-13 |
Not clear |
| Kimberly Jett, Rosa Nguyen, Darian Arman, Patricia Birch, Harleen Chohan, Said Farschtschi, Carsten Fuensterer, Lan Kluwe, Jan M Friedman, Victor F Mautne. Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25900062. |
numbers of subcutaneous neurofibromas of the scalp and body are associated with internal plexiform tumor burden in nf1. |
2016-03-17 |
2023-08-13 |
Not clear |
| Vincent M Riccard. Ketotifen suppression of NF1 neurofibroma growth over 30 years. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25974154. |
ketotifen suppression of nf1 neurofibroma growth over 30 years. |
2016-03-17 |
2023-08-13 |
Not clear |
| Vincent M Riccard. Ketotifen suppression of NF1 neurofibroma growth over 30 years. American journal of medical genetics. Part A. vol 167. issue 7. 2016-03-17. PMID:25974154. |
the data suggest a distinctive benefit to treating an nf1 patient with an inhibitor of mast cell degranulation before cutaneous neurofibromas are clinically apparent: the neurofibromas appear to be arrested at a very early stage of development. |
2016-03-17 |
2023-08-13 |
Not clear |
| Lionel Larribere, Huizi Wu, Daniel Novak, Marta Galach, Mathias Bernhardt, Elias Orouji, Kasia Weina, Nathalie Knappe, Christos Sachpekidis, Ludmila Umansky, Philipp Beckhove, Viktor Umansky, Sofie De Schepper, Dieter Kaufmann, Robert Ballotti, Corine Bertolotto, Jochen Utika. NF1 loss induces senescence during human melanocyte differentiation in an iPSC-based model. Pigment cell & melanoma research. vol 28. issue 4. 2016-03-07. PMID:25824590. |
neurofibromatosis type 1 (nf1) is a frequent genetic disease leading to the development of schwann cell-derived neurofibromas or melanocytic lesions called café-au-lait macules (calms). |
2016-03-07 |
2023-08-13 |
human |
| Denise Emmerich, Tomasz Zemojtel, Jochen Hecht, Peter Krawitz, Malte Spielmann, Jirko Kühnisch, Karolina Kobus, Monika Osswald, Verena Heinrich, Peter Berlien, Ute Müller, Victor-F Mautner, Katharina Wimmer, Peter N Robinson, Martin Vingron, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczy. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics : EJHG. vol 23. issue 6. 2016-02-03. PMID:25293717. |
somatic neurofibromatosis type 1 (nf1) inactivation events in cutaneous neurofibromas of a single nf1 patient. |
2016-02-03 |
2023-08-13 |
Not clear |
| M Ruggieri, A Polizzi, A Spalice, V Salpietro, R Caltabiano, V D'Orazi, P Pavone, C Pirrone, G Magro, N Platania, S Cavallaro, M Muglia, F Nicit. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. Clinical genetics. vol 87. issue 5. 2016-01-04. PMID:25211147. |
spinal neurofibromatosis (snf) is a related form of neurofibromatosis 1 (nf1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical nf1. |
2016-01-04 |
2023-08-13 |
Not clear |
| M Ruggieri, A Polizzi, A Spalice, V Salpietro, R Caltabiano, V D'Orazi, P Pavone, C Pirrone, G Magro, N Platania, S Cavallaro, M Muglia, F Nicit. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. Clinical genetics. vol 87. issue 5. 2016-01-04. PMID:25211147. |
by rigorous application of these criteria to the 98 snf cases published, we developed: (i) a cohort of 49 snf patients (21 males and 28 females; aged 4-74 years]: 9 snf families (21/49), 1 mixed snf/nf1 family (1/49) and 27 of 49 sporadic snf patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-snf patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (mnfsr): 4 mixed snf/mnfsr families (6/32); (b) 14 patients with nf1 manifestations without spinal neurofibromas, belonging to snf (8/49) or mnfsr families (6/32); (c) 3 patients with neurofibromas in one spinal root. |
2016-01-04 |
2023-08-13 |
Not clear |
| S S Shirol, Srinivas Kodaganur, Abhilash A Dani, Pradeep V Bhagwa. Dumbbell-Shaped Neurofibroma Over the External Ear. Journal of cutaneous and aesthetic surgery. vol 8. issue 3. 2015-12-08. PMID:26644744. |
to the best of our knowledge, this is the first ever case to be reported of a dumbbell-shaped neurofibroma over the external ear and only the fourth case of neurofibromatosis type 1 (nf1) to be associated with hashimoto thyroiditis. |
2015-12-08 |
2023-08-13 |
Not clear |
| Hacı Bayram Tosun, Sancar Serbest, Bilge Aydın Turk, Seyit Ali Gumustas, Abuzer Uluda. Giant malignant peripheral nerve sheath tumor of thigh in an adolescent with neurofibromatosis type 1: a case report. International medical case reports journal. vol 8. 2015-11-25. PMID:26604833. |
diagnosis of mpnst may be delayed in nf1 patients due to confusion with a neurofibroma and/or a plexiform neurofibroma. |
2015-11-25 |
2023-08-13 |
Not clear |
| Rodrigo Ramos-Zúñiga, Daniel Alexander Saldaña-Koppe. Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region. Surgical neurology international. vol 6. issue Suppl 19. 2015-11-25. PMID:26605110. |
the peripheral hallmarks of neurofibromatosis type 1 (nf1) are café au lait and solid nodular neurofibromas. |
2015-11-25 |
2023-08-13 |
Not clear |
| Edwin Jousma, Tilat A Rizvi, Jianqiang Wu, David Janhofer, Eva Dombi, Richard S Dunn, Mi-Ok Kim, Andrea R Masters, David R Jones, Timothy P Cripe, Nancy Ratne. Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of Neurofibromatosis type 1. Pediatric blood & cancer. vol 62. issue 10. 2015-11-02. PMID:25907661. |
loss of the nf1 ras-gap protein causes increased ras-gtp, and we previously found that inhibiting mek signaling downstream of ras can shrink established neurofibromas in a genetically engineered murine model. |
2015-11-02 |
2023-08-13 |
mouse |