146 related articles for article (PubMed ID: 35958499)
21. A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
Ars E; Kruyer H; Gaona A; Casquero P; Rosell J; Volpini V; Serra E; Lázaro C; Estivill X
Am J Hum Genet; 1998 Apr; 62(4):834-41. PubMed ID: 9529361
[TBL] [Abstract][Full Text] [Related]
22. Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Srivastava P; Gupta S; Bamba C; Daniel R; Kaur P; Kaur A; Panigrahi I; Mandal K
Heliyon; 2024 Jan; 10(1):e23685. PubMed ID: 38226287
[TBL] [Abstract][Full Text] [Related]
23. Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.
Du Q; Chen H; Zhou H
Neurol Sci; 2022 Feb; 43(2):1295-1301. PubMed ID: 34089417
[TBL] [Abstract][Full Text] [Related]
24. Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.
Chai P; Luo Y; Zhou C; Wang Y; Fan X; Jia R
BMC Med Genet; 2019 Sep; 20(1):158. PubMed ID: 31533651
[TBL] [Abstract][Full Text] [Related]
25. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Pacot L; Pelletier V; Chansavang A; Briand-Suleau A; Burin des Roziers C; Coustier A; Maillard T; Vaucouleur N; Orhant L; Barbance C; Lermine A; Hamzaoui N; Hadjadj D; Laurendeau I; El Khattabi L; Nectoux J; Vidaud M; Parfait B; Dollfus H; Pasmant E; Vidaud D
Hum Genet; 2023 Jan; 142(1):1-9. PubMed ID: 35941319
[TBL] [Abstract][Full Text] [Related]
26. Identification of Germinal Neurofibromin Hotspots.
Lois S; Báez-Flores J; Isidoro-García M; Lacal J; Triviño JC
Biomedicines; 2022 Aug; 10(8):. PubMed ID: 36009591
[TBL] [Abstract][Full Text] [Related]
27. [Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].
Zhao X; Zhou Q; Cai L; Zhao Z; Zhang L; Wang P; Zhang G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):489-492. PubMed ID: 30098240
[TBL] [Abstract][Full Text] [Related]
28. Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.
Zhang ZY; Wu YY; Cai XY; Fang WL; Xiao FL
Front Genet; 2021; 12():603195. PubMed ID: 33767727
[TBL] [Abstract][Full Text] [Related]
29. Next-generation panel sequencing identifies
Gieldon L; Masjkur JR; Richter S; Därr R; Lahera M; Aust D; Zeugner S; Rump A; Hackmann K; Tzschach A; Januszewicz A; Prejbisz A; Eisenhofer G; Schrock E; Robledo M; Klink B
Eur J Endocrinol; 2018 Feb; 178(2):K1-K9. PubMed ID: 29158289
[TBL] [Abstract][Full Text] [Related]
30. NF1 Somatic Mutation in Dystrophic Scoliosis.
Margraf RL; VanSant-Webb C; Mao R; Viskochil DH; Carey J; Hanson H; D'Astous J; Grossmann A; Stevenson DA
J Mol Neurosci; 2019 May; 68(1):11-18. PubMed ID: 30778836
[TBL] [Abstract][Full Text] [Related]
31. [A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1].
Zhu T; Huang S; Wu J; Wang C; Yang T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):318-22. PubMed ID: 26037340
[TBL] [Abstract][Full Text] [Related]
32. Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel
Xu J; Zhang Y; Zhu K; Li J; Guan Y; He X; Jin X; Bai G; Hu L
Front Genet; 2022; 13():991314. PubMed ID: 36246612
[TBL] [Abstract][Full Text] [Related]
33. NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1.
Su SY; Zhou X; Pang XM; Chen CY; Li SH; Liu JL
Genet Mol Res; 2016 Apr; 15(2):. PubMed ID: 27173220
[TBL] [Abstract][Full Text] [Related]
34. Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C; Lezana Rosales JM; López Montiel J; Andrés Garrido LD; Sánchez Linares C; Carmona Tamajón S; Torres Fernández C; Sánchez González P; Franco Freire S; Benito López C; López Siles J
Ann Hum Genet; 2018 Nov; 82(6):425-436. PubMed ID: 30014477
[TBL] [Abstract][Full Text] [Related]
35. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
Emmerich D; Zemojtel T; Hecht J; Krawitz P; Spielmann M; Kühnisch J; Kobus K; Osswald M; Heinrich V; Berlien P; Müller U; Mautner VF; Wimmer K; Robinson PN; Vingron M; Tinschert S; Mundlos S; Kolanczyk M
Eur J Hum Genet; 2015 Jun; 23(6):870-3. PubMed ID: 25293717
[TBL] [Abstract][Full Text] [Related]
36. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
Santoro C; Giugliano T; Bernardo P; Palladino F; Torella A; Del Vecchio Blanco F; Onore ME; Carotenuto M; Nigro V; Piluso G
BMC Neurol; 2020 Sep; 20(1):327. PubMed ID: 32873259
[TBL] [Abstract][Full Text] [Related]
37. Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.
Sharifi S; Kalaycı T; Palanduz Ş; Öztürk Ş; Cefle K
Balkan Med J; 2021 Nov; 38(6):365-373. PubMed ID: 34860164
[TBL] [Abstract][Full Text] [Related]
38. Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.
Ning Z; Yang Z; Chen G; Wu W; He L; Sun Y; Cai D; Zhang W
Mol Genet Genomic Med; 2020 Jan; 8(1):e1035. PubMed ID: 31713330
[TBL] [Abstract][Full Text] [Related]
39. Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
McPherson JR; Ong CK; Ng CC; Rajasegaran V; Heng HL; Yu WS; Tan BK; Madhukumar P; Teo MC; Ngeow J; Thike AA; Rozen SG; Tan PH; Lee AS; Teh BT; Yap YS
Cancer Med; 2015 Dec; 4(12):1871-8. PubMed ID: 26432421
[TBL] [Abstract][Full Text] [Related]
40. [Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1].
Ge L; Zhang Y; Liu L; Zheng X; Chen C; Kong J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):829-832. PubMed ID: 34487523
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]