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Items: 1 to 20 of 111

1.
Familial café au lait spots: a variant of neurofibromatosis type 1.
D Abeliovich, Z Gelman-Kohan, S Silverstein, I Lerer, J Chemke, S Merin, J Zlotogora
J Med Genet. 1995 Dec; 32(12): 985–986. doi: 10.1136/jmg.32.12.985
PMCID:
PMC1051784
SummaryPage BrowsePDF–389K
2.
A novel NF1 mutation in a pediatric patient with renal artery aneurysm
Ilenia Chillura, Giulia Angela Restivo, Simonetta Callari, Sabrina Cibella, Maria Michela D’Alessandro, Ciro Corrado, Mario Vallone, Vincenzo Antona, Giovanni Corsello
Ital J Pediatr. 2022; 48: 186. Published online 2022 Nov 21. doi: 10.1186/s13052-022-01382-8
PMCID:
PMC9677909
AbstractArticlePDF–1012K
3.
Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report
Meng-Jie Dong, Zhong-Kun Yang, Ji Yang, Rui-Qin Guo, Yu-Yuan Xiao, Hai Liu
Medicine (Baltimore) 2022 Jul 8; 101(27): e29280. Published online 2022 Jul 8. doi: 10.1097/MD.0000000000029280
PMCID:
PMC9259110
AbstractArticlePDF–708K
4.
Glioblastoma in a female neurofibromatosis 1 patient without IDH1, BRAF V600E, and TERT promoter mutations: A case report
Jia-Wei Cai, Xiao-Yong Chen, Jin-Yuan Chen, Zan-Yi Wu, Xi-Yue Wu, Liang-Hong Yu, Hong-Hai You
Medicine (Baltimore) 2021 Apr 2; 100(13): e25346. Published online 2021 Apr 2. doi: 10.1097/MD.0000000000025346
PMCID:
PMC8021349
AbstractArticlePDF–383K
5.
Ewing sarcoma in a child with neurofibromatosis type 1
Karen S. Fernandez, Michelle L. Turski, Avanthi Tayi Shah, Boris C. Bastian, Andrew Horvai, Steven Hardee, E. Alejandro Sweet-Cordero
Cold Spring Harb Mol Case Stud. 2019 Oct; 5(5): a004580. doi: 10.1101/mcs.a004580
PMCID:
PMC6824249
AbstractArticlePDF–6.4M
6.
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
Santasree Banerjee, Dongzhu Lei, Shengran Liang, Li Yang, Saijun Liu, Zhu Wei, Jian Ping Tang
Oncotarget. 2017 Jun 13; 8(24): 39695–39702. Published online 2016 Dec 14. doi: 10.18632/oncotarget.13932
PMCID:
PMC5503644
AbstractArticlePDF–1.5M
7.
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
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 Luca
Eur J Hum Genet. 2015 Aug; 23(8): 1068–1071. Published online 2014 Nov 5. doi: 10.1038/ejhg.2014.243
PMCID:
PMC4795103
AbstractArticlePDF–467K
8.
A Case of Monosomy-7 Eosinophilic Leukemia and Neurofibromatosis, Terminated with Disseminated Cryptococcosis
Hong Suck Song, Soong Kook Park
Korean J Intern Med. 1987 Jan; 2(1): 131–134. doi: 10.3904/kjim.1987.2.1.131
PMCID:
PMC4534905
AbstractArticlePDF–390K
9.
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
Jia Zhang, Hanxing Tong, Xi’an Fu, Yong Zhang, Jiangbo Liu, Ruhong Cheng, Jianying Liang, Jie Peng, Zhonghui Sun, Hong Liu, Furen Zhang, Weiqi Lu, Ming Li, Zhirong Yao
Sci Rep. 2015; 5: 11291. Published online 2015 Jun 9. doi: 10.1038/srep11291
PMCID:
PMC4460887
AbstractArticlePDF–266K
10.
Legius syndrome: case report and review of literature
Elisa Benelli, Irene Bruno, Chiara Belcaro, Alessandro Ventura, Irene Berti
Ital J Pediatr. 2015; 41: 8. Published online 2015 Feb 8. doi: 10.1186/s13052-015-0115-9
PMCID:
PMC4323213
AbstractArticlePDF–595K
11.
Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
Manuela Cerbone, Jun Wang, Silvère M. Van der Maarel, Alessandra d’Amico, Antonio d’Agostino, Alfonso Romano, Nicola Brunetti-Pierri
Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 158A(8): 2043–2046. Published online 2012 Jul 11. doi: 10.1002/ajmg.a.35486
PMCID:
PMC3402683
AbstractArticlePDF–1.2M
12.
NF1 Exon 22 Analysis of Individuals with the Clinical Diagnosis of Neurofibromatosis Type 1
Talia M. Muram-Zborovski, Cecily P. Vaughn, David H. Viskochil, Heather Hanson, Rong Mao, David A. Stevenson
Am J Med Genet A. Author manuscript; available in PMC 2011 Aug 1.
Published in final edited form as: Am J Med Genet A. 2010 Aug; 152A(8): 1973–1978. doi: 10.1002/ajmg.a.33525
PMCID:
PMC2910813
AbstractArticlePDF–283K
13.
Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene
Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola
Am J Hum Genet. 2002 Aug; 71(2): 389–394. Published online 2002 Jun 7. doi: 10.1086/341528
PMCID:
PMC379170
AbstractArticlePDF–366K
14.
Occipital bone defect caused by neurofibromatosis type I: A case report
Yiquan Wang, Shuyue Song, Zhen Li, Yujing Zhao, Junjie Miao, Zhe Wang
Medicine (Baltimore) 2023 Jul 21; 102(29): e34413. Published online 2023 Jul 21. doi: 10.1097/MD.0000000000034413
PMCID:
PMC10662833
AbstractArticlePDF–1.1M
15.
Biotoxicity comparison of Bacillus thuringiensis to control vector borne diseases against mosquito fauna
Naureen Fatima, Zuhra Bibi, Abdul Rehman, DilAra Abbas Bukhari
Saudi J Biol Sci. 2023 Apr; 30(4): 103610. Published online 2023 Mar 1. doi: 10.1016/j.sjbs.2023.103610
PMCID:
PMC10060249
AbstractArticlePDF–993K
16.
Primary pilocytic astrocytoma of the cerebellopontine angle in pediatric patient with neurofibromatosis type 1: a case report
Zaitun Zakaria, Raja Zubaidah Raja Mohd Rasi, Noor Azman A. Rahman
Egypt J Neurosurg. 2022; 37(1): 28. Published online 2022 Aug 31. doi: 10.1186/s41984-022-00168-8
PMCID:
PMC9427171
AbstractArticlePDF–1.2M
17.
Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1
R. El Qadiry, K. Danaoui, H. Nassih, A. Bourrahouat, I. Ait Sab
Case Rep Endocrinol. 2022; 2022: 6116603. Published online 2022 Apr 15. doi: 10.1155/2022/6116603
PMCID:
PMC9033354
AbstractArticlePDF–2.2M
18.
Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report
Ayman Khushaim, Atheer Albaradi, Abdulrahman Alsalim
Radiol Case Rep. 2022 Mar; 17(3): 667–669. Published online 2021 Dec 23. doi: 10.1016/j.radcr.2021.11.071
PMCID:
PMC8715292
AbstractArticlePDF–806K
19.
A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I
Tomoaki Tsuchiya, Yugo Iwaya, Mai Iwaya, Takuma Okamura, Tadanobu Nagaya, Takeji Umemura
ACG Case Rep J. 2021 Sep; 8(9): e00665. Published online 2021 Oct 4. doi: 10.14309/crj.0000000000000665
PMCID:
PMC8492363
AbstractArticlePDF–384K
20.
A Shepherd’s Crook Deformity of Proximal Femur Treated by Valgus Osteotomy and Bone Grafting
Subodh Kumar Pathak, Ajoy S. M., Praveen S Thivari, Atul Rai Sharma, Jasneet S Chawla, Aryan Sharma, Ashish Garg, Sarthak Sharma, Harish V. K. Ratna, Akshdeep Singh, Ayush Jain
Cureus. 2021 Jul; 13(7): e16485. Published online 2021 Jul 19. doi: 10.7759/cureus.16485
PMCID:
PMC8372827
AbstractArticlePDF–1.3M

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