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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 …
Growth and Growth Hormone Treatment in Noonan Syndrome.
Romano AA. Romano AA. Pediatr Endocrinol Rev. 2019 May;16(Suppl 2):459-464. doi: 10.17458/per.vol16.2019.r.growthhormonenoonan. Pediatr Endocrinol Rev. 2019. PMID: 31115197
Short stature is a common characteristic of Noonan Syndrome (NS), a genetic condition caused by mutations affecting the RAS / mitogen-activated protein kinase (MAPK) cascade. ...Studies of GH treatment to adult height have shown height gains of 9.5-13.0 cm for males …
Short stature is a common characteristic of Noonan Syndrome (NS), a genetic condition caused by mutations affecting the RAS / …
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Stephens SB, Novy T, Spurzem GN, Jacob B, Beecroft T, Soludczyk E, Kozel BA, Weigand J, Morris SA. Stephens SB, et al. J Am Heart Assoc. 2024 Apr 16;13(8):e034048. doi: 10.1161/JAHA.123.034048. Epub 2024 Apr 9. J Am Heart Assoc. 2024. PMID: 38591341 Free article.
BACKGROUND: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS). METHODS AND RESULTS: This retrospective cohort study included patients with SVAS at our instit …
BACKGROUND: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluat …
Prenatal management and thoracoamniotic shunting in primary fetal pleural effusions: a single centre experience.
Pellegrinelli JM, Kohler A, Kohler M, Weingertner AS, Favre R. Pellegrinelli JM, et al. Prenat Diagn. 2012 May;32(5):467-71. doi: 10.1002/pd.3840. Epub 2012 Apr 13. Prenat Diagn. 2012. PMID: 22499187
RESULTS: Of 41 cases, 23 (56%) were hydropic, and 27 (66%) required shunting. Overall, 2 (4.8%) were diagnosed with a chromosomal condition and 4 (9.6%) with a congenital condition (3 Noonan syndrome, 1 mild structural cardiac defect). ...
RESULTS: Of 41 cases, 23 (56%) were hydropic, and 27 (66%) required shunting. Overall, 2 (4.8%) were diagnosed with a chromosomal con …
The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review.
Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD. Briggs B, et al. J Pediatr. 2020 May;220:154-158.e6. doi: 10.1016/j.jpeds.2020.01.048. Epub 2020 Feb 25. J Pediatr. 2020. PMID: 32111381
All patients with a clinical diagnosis of Noonan syndrome over a 10-year period were included. Data on surgeries, hematologic evaluation, bleeding symptoms, and bleeding complications were extracted. Surgeries were graded as major or minor. RESULTS: We identified 10 …
All patients with a clinical diagnosis of Noonan syndrome over a 10-year period were included. Data on surgeries, hematologic …
Understanding Treatment Burden for Children Treated for Growth Hormone Deficiency.
Brod M, Højbjerre L, Alolga SL, Beck JF, Wilkinson L, Rasmussen MH. Brod M, et al. Patient. 2017 Oct;10(5):653-666. doi: 10.1007/s40271-017-0237-9. Patient. 2017. PMID: 28386679 Free PMC article.
METHODS: Four focus groups (in Germany) and 52 telephone interviews (in the UK and USA) were conducted with children/adolescents with GHD aged 8 to <13 years and parents of children with GHD aged 4 to <13 years. ...
METHODS: Four focus groups (in Germany) and 52 telephone interviews (in the UK and USA) were conducted with children/adolescents with GHD ag …
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
García-Miñaúr S, Burkitt-Wright E, Verloes A, Shaikh G, Lebl J, Östman-Smith I, Wolf CM, Ortega Castelló E, Tartaglia M, Zenker M, Edouard T. García-Miñaúr S, et al. Eur J Med Genet. 2022 Jan;65(1):104371. doi: 10.1016/j.ejmg.2021.104371. Epub 2021 Oct 29. Eur J Med Genet. 2022. PMID: 34757053 Free article.
INTRODUCTION: Noonan syndrome (NS) is a rare genetic disorder caused by mutations in genes encoding components of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway. ...Care practices were generally aligned across the countries participating i …
INTRODUCTION: Noonan syndrome (NS) is a rare genetic disorder caused by mutations in genes encoding components of the RAS/mito …
Genotype differences in cognitive functioning in Noonan syndrome.
Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Pierpont EI, et al. Genes Brain Behav. 2009 Apr;8(3):275-82. doi: 10.1111/j.1601-183X.2008.00469.x. Epub 2008 Dec 11. Genes Brain Behav. 2009. PMID: 19077116 Free PMC article.
Noonan syndrome (NS) is an autosomal-dominant genetic disorder associated with highly variable features, including heart disease, short stature, minor facial anomalies and learning disabilities. ...
Noonan syndrome (NS) is an autosomal-dominant genetic disorder associated with highly variable features, including heart disea …
The face of Noonan syndrome: Does phenotype predict genotype.
Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M. Allanson JE, et al. Am J Med Genet A. 2010 Aug;152A(8):1960-6. doi: 10.1002/ajmg.a.33518. Am J Med Genet A. 2010. PMID: 20602484 Free PMC article.
The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each of whom has considerable experience with disorders of the Ras/MAPK pathway. ...The facial appearance of each perso …
The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorpho …
Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome.
Soliman AT, Rajab A, el Zalabany M, alSalmi I, Fattah MA. Soliman AT, et al. Indian J Pediatr. 1998 Sep-Oct;65(5):741-9. doi: 10.1007/BF02731057. Indian J Pediatr. 1998. PMID: 10773931
Auxological and endocrine data from 12 prepubertal children (3 males, 9 females) with Noonan syndrome (NS) were compared with those of 15 children with constitutional short stature (CSS), 20 children with partial GH deficiency (GHD), and 6 children with Turner sy …
Auxological and endocrine data from 12 prepubertal children (3 males, 9 females) with Noonan syndrome (NS) were compared with …
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