320 related articles for article (PubMed ID: 22869071)
21. A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.
Banerjee S; Dai Y; Liang S; Chen H; Wang Y; Tang L; Wu J; Huang H
J Clin Neurosci; 2016 Sep; 31():182-4. PubMed ID: 27234610
[TBL] [Abstract][Full Text] [Related]
22. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Abramowicz A; Gos M
Dev Period Med; 2014; 18(3):297-306. PubMed ID: 25182393
[TBL] [Abstract][Full Text] [Related]
23. Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
Kokkinou E; Roka K; Alexopoulos A; Tsina E; Nikas I; Krallis P; Thanopoulou I; Nasi L; Makrygianni E; Tsoutsou E; Kosma K; Tsipi M; Tzetis M; Frysira H; Kattamis A; Pons R
Postgrad Med; 2019 Sep; 131(7):445-452. PubMed ID: 31443616
[TBL] [Abstract][Full Text] [Related]
24. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
Bernier A; Larbrisseau A; Perreault S
Pediatr Neurol; 2016 Jul; 60():24-29.e1. PubMed ID: 27212418
[TBL] [Abstract][Full Text] [Related]
25. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer.
Hernández-Martín A; Duat-Rodríguez A
Actas Dermosifiliogr; 2016; 107(6):465-73. PubMed ID: 26956402
[TBL] [Abstract][Full Text] [Related]
26. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
[TBL] [Abstract][Full Text] [Related]
27. Identification of a Novel
Xu G; Li M; Niu Y; Huang X; Li Y; Tang G; Long S; Zhao H; Jiang H
Biomed Res Int; 2019; 2019():2721357. PubMed ID: 31886188
[TBL] [Abstract][Full Text] [Related]
28. Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
Kaufmann D; Müller R; Bartelt B; Wolf M; Kunzi-Rapp K; Hanemann CO; Fahsold R; Hein C; Vogel W; Assum G
Am J Hum Genet; 2001 Dec; 69(6):1395-400. PubMed ID: 11704931
[TBL] [Abstract][Full Text] [Related]
29. [A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis].
Long X; Xiong J; Mo Z; Zhang Q; Jin P
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2018 Jul; 43(7):811-815. PubMed ID: 30124220
[TBL] [Abstract][Full Text] [Related]
30. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H; Legius E
Keio J Med; 2013; 62(4):107-12. PubMed ID: 24334617
[TBL] [Abstract][Full Text] [Related]
31. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.
Xiao H; Yuan L; Xu H; Yang Z; Huang F; Song Z; Yang Y; Zeng C; Deng H
J Mol Neurosci; 2018 Aug; 65(4):557-563. PubMed ID: 30046999
[TBL] [Abstract][Full Text] [Related]
32. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
N Abdel-Aziz N; Y El-Kamah G; A Khairat R; R Mohamed H; Z Gad Y; El-Ghor AM; Amr KS
Mol Genet Genomic Med; 2021 Dec; 9(12):e1631. PubMed ID: 34080803
[TBL] [Abstract][Full Text] [Related]
33. Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
Prasad BCM; Chandra VVR; Sudarsan A; Kumar PS; Sarma PVGK
J Clin Neurosci; 2018 Jul; 53():62-68. PubMed ID: 29680440
[TBL] [Abstract][Full Text] [Related]
34. Analysis of neurofibromatosis 1 (NF1) lesions by body segment.
Palmer C; Szudek J; Joe H; Riccardi VM; Friedman JM
Am J Med Genet A; 2004 Mar; 125A(2):157-61. PubMed ID: 14981716
[TBL] [Abstract][Full Text] [Related]
35. A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
Chillura I; Restivo GA; Callari S; Cibella S; D'Alessandro MM; Corrado C; Vallone M; Antona V; Corsello G
Ital J Pediatr; 2022 Nov; 48(1):186. PubMed ID: 36411470
[TBL] [Abstract][Full Text] [Related]
36. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
Hirata Y; Brems H; Suzuki M; Kanamori M; Okada M; Morita R; Llano-Rivas I; Ose T; Messiaen L; Legius E; Yoshimura A
J Biol Chem; 2016 Feb; 291(7):3124-34. PubMed ID: 26635368
[TBL] [Abstract][Full Text] [Related]
37. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E; Rosas I; Negro A; Gel B; Alibés A; Baena N; Pineda M; Pi G; Pintos G; Salvador H; Lázaro C; Blanco I; Vilageliu L; Brems H; Grinberg D; Legius E; Serra E
Clin Genet; 2020 Feb; 97(2):264-275. PubMed ID: 31573083
[TBL] [Abstract][Full Text] [Related]
38. Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1.
Yang L; Fu J; Cheng J; Zhou B; Liu X; Anuchapreeda S; Fu J
Mol Biol Rep; 2023 Feb; 50(2):1117-1123. PubMed ID: 36401065
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease.
Hernández-Martín A; Duat-Rodríguez A
Actas Dermosifiliogr; 2016; 107(6):454-64. PubMed ID: 26979265
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
