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Quoted phrase not found in phrase index: "Noonan syndrome 11"
Page 1
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators. André T, et al. N Engl J Med. 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. N Engl J Med. 2020. PMID: 33264544 Free article. Clinical Trial.
An overall response (complete or partial response), as evaluated with Response Evaluation Criteria in Solid Tumors (RECIST), version 1.1, was observed in 43.8% of the patients in the pembrolizumab group and 33.1% in the chemotherapy group. ...
An overall response (complete or partial response), as evaluated with Response Evaluation Criteria in Solid Tumors (RECIST), version 1.1, wa …
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.
PURPOSE: To characterize the molecular genetics of autosomal recessive Noonan syndrome. METHODS: Families underwent phenotyping for features of Noonan syndrome in children and their parents. ...CONCLUSION: These clinical and genetic data confirm the ex …
PURPOSE: To characterize the molecular genetics of autosomal recessive Noonan syndrome. METHODS: Families underwent phenotypin …
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. ...The most commonly identified pathogenic variants in this se …
BACKGROUND: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in gen …
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. ...CONCLUSION: Comparison of prenatal versus postn …
PURPOSE: To compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean SD …
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.
Gürsoy S, Hazan F, Kaderli B, Meşe T, Tükün A. Gürsoy S, et al. J Clin Pediatr Dent. 2020 Aug 1;44(4):262-267. doi: 10.17796/1053-4625-44.4.8. J Clin Pediatr Dent. 2020. PMID: 33167018 Free article.
OBJECTIVE: To evaluate orodental, facial, clinical and molecular characteristics of the patients with Noonan Syndrome (NS). STUDY DESIGN: The orodental, clinical and molecular characteristics of 29 mutation-positive patients with NS were recorded. ...Anterior open b …
OBJECTIVE: To evaluate orodental, facial, clinical and molecular characteristics of the patients with Noonan Syndrome (NS). ST …
Impaired communication ability in SOX11 syndrome.
Smith H, Al-Jawahiri R, Stokes L, Freeth M, Fricke S, Matthews D, McNeill A. Smith H, et al. J Intellect Disabil Res. 2024 Mar;68(3):285-292. doi: 10.1111/jir.13105. Epub 2023 Nov 2. J Intellect Disabil Res. 2024. PMID: 37916390
METHOD: Thirteen parent/carers of verbal individuals (aged 5-19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic di …
METHOD: Thirteen parent/carers of verbal individuals (aged 5-19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to …
SHP-2 and myeloid malignancies.
Tartaglia M, Niemeyer CM, Shannon KM, Loh ML. Tartaglia M, et al. Curr Opin Hematol. 2004 Jan;11(1):44-50. doi: 10.1097/00062752-200401000-00007. Curr Opin Hematol. 2004. PMID: 14676626 Review.
Gain of function mutations in PTPN11, the gene encoding SHP-2, is observed in Noonan syndrome and related development disorders, as well as in myeloid malignancies. ...
Gain of function mutations in PTPN11, the gene encoding SHP-2, is observed in Noonan syndrome and related development d …
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G, Caciolo C, Menghini D, Cumbo F, Digilio MC, Capolino R, Zampino G, Tartaglia M, Vicari S, Alfieri P. Lazzaro G, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1069. doi: 10.1002/mgg3.1069. Epub 2020 Feb 14. Mol Genet Genomic Med. 2020. PMID: 32059087 Free PMC article.
BACKGROUND: Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. ...METHODS: The language profile of 37 Italia …
BACKGROUND: Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, …
Noonan syndrome: coagulation and clinical aspects.
Massarano AA, Wood A, Tait RC, Stevens R, Super M. Massarano AA, et al. Acta Paediatr. 1996 Oct;85(10):1181-5. doi: 10.1111/j.1651-2227.1996.tb18225.x. Acta Paediatr. 1996. PMID: 8922080
The study aims were to review the clinical features of a group of patients with Noonan syndrome and to further elucidate their bleeding tendency. ...Coagulation results did not correlate with bruising history and may not predict bleeding risk. Care is require …
The study aims were to review the clinical features of a group of patients with Noonan syndrome and to further elucidate their …
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP. Boleti O, et al. ESC Heart Fail. 2024 Apr;11(2):923-936. doi: 10.1002/ehf2.14637. Epub 2024 Jan 13. ESC Heart Fail. 2024. PMID: 38217456 Free PMC article.
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose …
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome …
160 results