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Page 1
Neurofibromatosis-Noonan syndrome.
Buehning L, Curry CJ. Buehning L, et al. Pediatr Dermatol. 1995 Sep;12(3):267-71. doi: 10.1111/j.1525-1470.1995.tb00175.x. Pediatr Dermatol. 1995. PMID: 7501563
Noonan syndrome and its related disorders.
Fukushima Y. Fukushima Y. Acta Paediatr Jpn. 1996 Feb;38(1):102-4. doi: 10.1111/j.1442-200x.1996.tb03447.x. Acta Paediatr Jpn. 1996. PMID: 8992851 Review.
These include cardio-facial-cutaneous syndrome, LEOPARD syndrome, neurofibromatosis-Noonan syndrome and Costello syndrome. The facial appearance and part of the clinical features of these syndromes are very similar to Noonan syndrome. ...
These include cardio-facial-cutaneous syndrome, LEOPARD syndrome, neurofibromatosis-Noonan syndrome and Costello syndro …
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Dalili S, Hoseini Nouri SA, Bayat R, Koohmanaee S, Tabrizi M, Zarkesh M, Tarang A, Mahdieh N. Dalili S, et al. Hum Genomics. 2023 Feb 20;17(1):12. doi: 10.1186/s40246-023-00460-0. Hum Genomics. 2023. PMID: 36803953 Free PMC article.
BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. …
BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, …
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.
Işık E, Onay H, Atik T, Solmaz AE, Özen S, Çoğulu Ö, Darcan Ş, Özkınay F. Işık E, et al. J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):113-116. doi: 10.4274/jcrpe.galenos.2019.2019.0023. Epub 2019 May 15. J Clin Res Pediatr Endocrinol. 2020. PMID: 31088041 Free PMC article.
Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations. ...
Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations. ...
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
Witkowski L, Dillon MW, Murphy E, S Lebo M, Mason-Suares H. Witkowski L, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1180. doi: 10.1002/mgg3.1180. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32107864 Free PMC article.
However, some NF1/LS individuals also exhibit NSD phenotypes, often referred to as Neurofibromatosis-Noonan syndrome (NFNS), and may be mistakenly evaluated for NSDs, delaying diagnosis, and affecting patient management. ...
However, some NF1/LS individuals also exhibit NSD phenotypes, often referred to as Neurofibromatosis-Noonan syndrome (N …
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML. Ekvall S, et al. Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357598
Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). ...
Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (N …
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923
Similarities between neurofibromatosis type 1 and Noonan syndrome have been noted for over 20 years and patients who share symptoms of both conditions are often given the diagnosis of neurofibromatosis-Noonan syndrome (NFNS). The molecular basis of these comb …
Similarities between neurofibromatosis type 1 and Noonan syndrome have been noted for over 20 years and patients who share symptoms of both …
27 results