436 related articles for article (PubMed ID: 32393377)
21. 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]
22. 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]
23. 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]
24. Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
Cassiman C; Casteels I; Jacob J; Plasschaert E; Brems H; Dubron K; Keer KV; Legius E
Clin Genet; 2017 Apr; 91(4):529-535. PubMed ID: 27716896
[TBL] [Abstract][Full Text] [Related]
25. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
Wimmer K; Rosenbaum T; Messiaen L
Clin Genet; 2017 Apr; 91(4):507-519. PubMed ID: 27779754
[TBL] [Abstract][Full Text] [Related]
26. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H; Cooper DN
Hum Genet; 2022 Feb; 141(2):177-191. PubMed ID: 34928431
[TBL] [Abstract][Full Text] [Related]
27. [From gene to disease; neurofibromatosis type 1].
de Goede-Bolder A; Cnossen MH; Dooijes D; van den Ouweland AM; Niermeijer MF
Ned Tijdschr Geneeskd; 2001 Sep; 145(36):1736-8. PubMed ID: 11572174
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Partial unilateral lentiginosis is mosaic neurofibromatosis type 1 or not?
Yaşar Ş; Ersanli A; Göktay F; Aytekin S; Cebeci D; Güneş P
J Dermatol; 2017 Jan; 44(1):29-35. PubMed ID: 27439996
[TBL] [Abstract][Full Text] [Related]
31. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report.
Choi EM; Jung N; Shim YJ; Choi HJ; Kim JS; Kim HS; Song KS; Lee HJ; Kim SP
Ann Pediatr Endocrinol Metab; 2016 Dec; 21(4):240-244. PubMed ID: 28164079
[TBL] [Abstract][Full Text] [Related]
32. Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L; Alexopoulos A; Kokkinou E; Roka K; Tzetis M; Tsipi M; Kakourou T; Kanaka-Gantenbein C; Chrousos G; Kattamis A; Pons R;
Acta Derm Venereol; 2023 Jun; 103():adv5758. PubMed ID: 37272364
[TBL] [Abstract][Full Text] [Related]
33. [Unusual clinical manifestations of type 1 neurofibromatosis].
Komlósi K; Polgár N; Hadzsiev K; Ottóffy G; Illés T; Dóczi T; Melegh B
Orv Hetil; 2011 Dec; 152(49):1965-70. PubMed ID: 22106164
[TBL] [Abstract][Full Text] [Related]
34. Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.
Friedrich RE; Zustin J; Luebke AM; Rosenbaum T; Gosau M; Hagel C; Kohlrusch FK; Wieland I; Zenker M
In Vivo; 2021; 35(3):1711-1736. PubMed ID: 33910856
[TBL] [Abstract][Full Text] [Related]
35. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
Sabol Z; Kipke-Sabol L
Lijec Vjesn; 2005; 127(11-12):303-11. PubMed ID: 16583938
[TBL] [Abstract][Full Text] [Related]
36. Jaffe-Campanacci syndrome resulted in amputation: A case report.
Jiang J; Liu M
World J Clin Cases; 2024 Apr; 12(10):1785-1792. PubMed ID: 38660072
[TBL] [Abstract][Full Text] [Related]
37. [Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1].
Zhang Y; Yan L; Xie M; Xue J; Zhuang D; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1478-1483. PubMed ID: 37994127
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. 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]
[Previous] [Next] [New Search]
