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Quoted phrase not found in phrase index: "Noonan syndrome 4"
Page 1
Neuromyelitis optica spectrum disorders.
Huda S, Whittam D, Bhojak M, Chamberlain J, Noonan C, Jacob A. Huda S, et al. Clin Med (Lond). 2019 Mar;19(2):169-176. doi: 10.7861/clinmedicine.19-2-169. Clin Med (Lond). 2019. PMID: 30872305 Free PMC article. Review.
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postrema syndrome) are classic presentations of the disease and may alert the clinician to the diagnosis. ...Approximately 75% of patients …
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postre …
Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Romano AA, et al. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Pediatrics. 2010. PMID: 20876176 Review.
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. ...Because of the variability in presentation and th …
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial featu …
RASopathies.
Jafry M, Sidbury R. Jafry M, et al. Clin Dermatol. 2020 Jul-Aug;38(4):455-461. doi: 10.1016/j.clindermatol.2020.03.010. Epub 2020 Apr 1. Clin Dermatol. 2020. PMID: 32972603 Review.
Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. ...
Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromat …
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
BACKGROUND: Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. ...Additional functional studies are needed to elucidate the role of LZTR1 in RAS/MAPK signalling and in …
BACKGROUND: Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activa …
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC. Palit A, et al. Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. Indian J Dermatol Venereol Leprol. 2022. PMID: 35138057 Free article. Review.
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose ana …
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibroma …
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P. Mohan P, et al. Ultrasound Obstet Gynecol. 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. Ultrasound Obstet Gynecol. 2022. PMID: 34358384 Free PMC article.
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic variants implicated in 25 dominant conditions. The con …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-g …
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. ...
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency an …
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...Other as …
Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G. Kavamura MI, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):452-458. doi: 10.1002/ajmg.c.32027. Epub 2022 Dec 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36541891 Review.
Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, formerly known as LEOPARD syndrome, Costello syndrome, neurofibromatosis (NF1), Legius s …
Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan synd …
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. ...Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noon …
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardia …
273 results