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Quoted phrase not found in phrase index: "Noonan syndrome 8"
Page 1
Clinical Indications for Growth Hormone Therapy.
Danowitz M, Grimberg A. Danowitz M, et al. Adv Pediatr. 2022 Aug;69(1):203-217. doi: 10.1016/j.yapd.2022.03.005. Epub 2022 Jun 17. Adv Pediatr. 2022. PMID: 35985710 Free PMC article. Review.
Growth hormone (GH) is an injectable medication originally used to replace the deficiency of the hormone, but has expanded to treating conditions that may reduce growth and adult height even when the body maintains endogenous GH production. In the United States, there are 8 …
Growth hormone (GH) is an injectable medication originally used to replace the deficiency of the hormone, but has expanded to treating condi …
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. ...RESULTS: Thirty-two previously described pathogenic variant …
BACKGROUND: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in gen …
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM, Thain E, Barnett-Tapia C, Sadeghian H, Kim RH. Farncombe KM, et al. BMC Med Genomics. 2022 Jul 15;15(1):160. doi: 10.1186/s12920-022-01304-x. BMC Med Genomics. 2022. PMID: 35840934 Free PMC article. Review.
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. ...CASE PRESENTATION: A female patient was diagnosed with clinical NS at 8 months of age. She presented in adultho …
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardi …
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 …
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA. Leach NT, et al. Genet Med. 2019 Feb;21(2):417-425. doi: 10.1038/s41436-018-0062-0. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907801 Free article.
PURPOSE: To compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean SD, 8.9 9.4 years) cohorts tested for Noonan syndrome and related conditions. ...
PURPOSE: To compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean SD, 8 …
Noonan syndrome and pregnancy outcomes.
Chow CA, Campbell KH, Chou JC, Elder RW. Chow CA, et al. Cardiol Young. 2022 Dec;32(12):1925-1929. doi: 10.1017/S104795112100514X. Epub 2022 Jan 17. Cardiol Young. 2022. PMID: 35034678
BACKGROUND: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan …
BACKGROUND: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis …
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 …
OBJECTIVE: To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of re …
Pectus excavatum and carinatum.
Cobben JM, Oostra RJ, van Dijk FS. Cobben JM, et al. Eur J Med Genet. 2014 Aug;57(8):414-7. doi: 10.1016/j.ejmg.2014.04.017. Epub 2014 May 10. Eur J Med Genet. 2014. PMID: 24821303 Review.
However, the most important and most frequently observed monogenic syndromes with pectus excavatum/carinatum are Marfan Syndrome and Noonan Syndrome....
However, the most important and most frequently observed monogenic syndromes with pectus excavatum/carinatum are Marfan Syndrome and …
Loose anagen hair.
Tosti A, Peluso AM, Misciali C, Venturo N, Patrizi A, Fanti PA. Tosti A, et al. Arch Dermatol. 1997 Sep;133(9):1089-93. Arch Dermatol. 1997. PMID: 9301585
PATIENTS: Beginning in January 1990, 14 children and 5 adults (age range, 8 months to 47 years) were diagnosed as having LAH. Associated diseases included alopecia areata in a 3-year-old boy and Noonan syndrome in a 5-year-old boy. ...
PATIENTS: Beginning in January 1990, 14 children and 5 adults (age range, 8 months to 47 years) were diagnosed as having LAH. Associa …
Neuropsychiatric phenotypes in children with Noonan syndrome.
Naylor PE, Bruno JL, Shrestha SB, Friedman M, Jo B, Reiss AL, Green T. Naylor PE, et al. Dev Med Child Neurol. 2023 Nov;65(11):1520-1529. doi: 10.1111/dmcn.15627. Epub 2023 May 2. Dev Med Child Neurol. 2023. PMID: 37130201
METHOD: Forty-five children with Noonan syndrome (mean = 8 years 6 months, SD = 2 years 2 months; 29 females) and 40 typically developing children (mean = 8 years 9 months, SD = 2 years; 22 females) were evaluated with objective, parent-report, and psy …
METHOD: Forty-five children with Noonan syndrome (mean = 8 years 6 months, SD = 2 years 2 months; 29 females) and 40 ty …
198 results