308 related articles for article (PubMed ID: 34089417)
1. 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]
2. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
Banerjee S; Lei D; Liang S; Yang L; Liu S; Wei Z; Tang JP
Oncotarget; 2017 Jun; 8(24):39695-39702. PubMed ID: 27980226
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
Gabriele AL; Ruggieri M; Patitucci A; Magariello A; Conforti FL; Mazzei R; Muglia M; Ungaro C; Di Palma G; Citrigno L; Sproviero W; Gambardella A; Quattrone A
Childs Nerv Syst; 2011 Apr; 27(4):635-8. PubMed ID: 20927530
[TBL] [Abstract][Full Text] [Related]
5. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
Yang CC; Happle R; Chao SC; Yu-Yun Lee J; Chen W
J Am Acad Dermatol; 2008 Mar; 58(3):493-7. PubMed ID: 18280349
[TBL] [Abstract][Full Text] [Related]
6. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
Tong HX; Li M; Zhang Y; Zhu J; Lu WQ
Genet Mol Res; 2012 Aug; 11(3):2972-8. PubMed ID: 22869071
[TBL] [Abstract][Full Text] [Related]
7. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
Ece Solmaz A; Isik E; Atik T; Ozkinay F; Onay H
Clin Neurol Neurosurg; 2021 Sep; 208():106884. PubMed ID: 34418705
[TBL] [Abstract][Full Text] [Related]
8. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
Van-Gils J; Harambat J; Jubert C; Vidaud D; Llanas B; Perel Y; Lacombe D; Goizet C
Eur J Med Genet; 2014; 57(11-12):639-42. PubMed ID: 25234363
[TBL] [Abstract][Full Text] [Related]
9. Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.
Ben-Shachar S; Dubov T; Toledano-Alhadef H; Mashiah J; Sprecher E; Constantini S; Leshno M; Messiaen LM
J Am Acad Dermatol; 2017 Jun; 76(6):1077-1083.e3. PubMed ID: 28318682
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Next Generation Sequencing Identified a Novel Multi Exon Deletion of the
J Y; J-X A; X-L L; Z-Q W; G-M X; X-L Y; S-J X; F F; Y N
Balkan J Med Genet; 2018 Dec; 21(2):45-48. PubMed ID: 30984524
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Pigment cell-related manifestations in neurofibromatosis type 1: an overview.
De Schepper S; Boucneau J; Lambert J; Messiaen L; Naeyaert JM
Pigment Cell Res; 2005 Feb; 18(1):13-24. PubMed ID: 15649148
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Sarantou S; Marinakis NM; Traeger-Synodinos J; Siomou E; Ntinopoulos A; Serbis A
Mol Biol Rep; 2024 Jan; 51(1):216. PubMed ID: 38281202
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Denayer E; Legius E
Acta Derm Venereol; 2020 Mar; 100(7):adv00093. PubMed ID: 32147744
[TBL] [Abstract][Full Text] [Related]
20. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Güneş N; Yeşil G; Geyik F; Kasap B; Celkan T; Kebudi R; Tüysüz B
Ann Hum Genet; 2021 Sep; 85(5):155-165. PubMed ID: 33877690
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]