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Quoted phrase not found in phrase index: "Noonan syndrome 11"
Page 1
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeleta …
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally redu …
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD. Linglart L, et al. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32022400 Free PMC article. Review.
Molecular diagnosis with gene resequencing panels is now widely available, but phenotype variability and in some cases, subtlety, continues to make identification of Noonan syndrome difficult. Until genetic testing becomes universal for patients with congenital hear …
Molecular diagnosis with gene resequencing panels is now widely available, but phenotype variability and in some cases, subtlety, continues …
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. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The id …
BACKGROUND: Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activa …
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S. Athota JP, et al. BMC Med Genet. 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. BMC Med Genet. 2020. PMID: 32164556 Free PMC article.
BACKGROUND: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. ...
BACKGROUND: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in gen …
Noonan syndrome.
Turner AM. Turner AM. J Paediatr Child Health. 2014 Oct;50(10):E14-20. doi: 10.1111/j.1440-1754.2010.01970.x. Epub 2011 Jul 19. J Paediatr Child Health. 2014. PMID: 21771153 Review.
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. ...
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. ...
Plastic bronchitis and Noonan syndrome.
López-Alba A, Aldao-Argüelles I, de Granda-Orive JI. López-Alba A, et al. Arch Bronconeumol. 2021 Nov;57(11):705. doi: 10.1016/j.arbr.2021.09.006. Epub 2021 Sep 23. Arch Bronconeumol. 2021. PMID: 35699014 No abstract available.
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Wu X, Wu J, Yuan Y, Yang L, Yu L. Wu X, et al. Mol Genet Genomic Med. 2023 Nov;11(11):e2266. doi: 10.1002/mgg3.2266. Epub 2023 Aug 1. Mol Genet Genomic Med. 2023. PMID: 37525886 Free PMC article.
OBJECTIVE: To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment. METHODS: We collected clinical data from 8 children with Noonan syndrome diag …
OBJECTIVE: To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of re …
Keratopathy in Noonan Syndrome.
Yang Y, Woo JH, Ali A. Yang Y, et al. Cornea. 2022 Nov 1;41(11):1462-1464. doi: 10.1097/ICO.0000000000003078. Epub 2022 Jul 6. Cornea. 2022. PMID: 35867656
PURPOSE: Anterior segment abnormalities associated with Noonan syndrome are rare. We report our experience with 2 patients who developed keratopathy with significant visual sequelae. ...These changes may due to an excessive fibrotic response in Noonan synd …
PURPOSE: Anterior segment abnormalities associated with Noonan syndrome are rare. We report our experience with 2 patients who …
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 …
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. ...Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have d …
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. ... …
279 results