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Quoted phrase not found in phrase index: "Noonan syndrome 14"
Page 1
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. …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by …
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G. Scorrano G, et al. Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111. Genes (Basel). 2023. PMID: 38136934 Free PMC article. Review.
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a cruc …
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/ …
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G, Papadopoulou A, Kosma K, Papadimitriou A, Papaevangelou V, Kanaka-Gantenbein C, Bountouvi E, Kitsiou-Tzeli S. Papadopoulos G, et al. Eur J Pediatr. 2022 Oct;181(10):3691-3700. doi: 10.1007/s00431-022-04574-w. Epub 2022 Jul 29. Eur J Pediatr. 2022. PMID: 35904599
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. ...The significant prevalence of the Ras/MAPK pathogenic variants (17.4%), other than PTPN11, in Greek NS patients, highlights the necessity of a wider spectr …
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. ...The significant …
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A, Vitiello B, Ferrero GB. Davico C, et al. Eur J Pediatr. 2022 Aug;181(8):2919-2926. doi: 10.1007/s00431-022-04497-6. Epub 2022 May 16. Eur J Pediatr. 2022. PMID: 35575813
Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in the Ras/Mitogen-activated protein kinase pathway. ...The study included all the patients aged 5-21 years who had been diagnosed with NS or of …
Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in th …
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
Tamburrino F, Mazzanti L, Scarano E, Gibertoni D, Sirolli M, Zioutas M, Schiavariello C, Perri A, Mantovani A, Rossi C, Tartaglia M, Pession A. Tamburrino F, et al. Front Endocrinol (Lausanne). 2023 Jul 31;14:1209339. doi: 10.3389/fendo.2023.1209339. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37588986 Free PMC article.
We specifically investigated and compared anthropometric and haematochemistry data between the Noonan syndrome (NS) and Mazzanti syndrome (NS/LAH) groups. RESULTS: At the first evaluation (9.5 6.2 years), reduced growth (-1.80 1.07 DS) was associated with a s …
We specifically investigated and compared anthropometric and haematochemistry data between the Noonan syndrome (NS) and Mazzan …
Social behavior in RASopathies and idiopathic autism.
Foy AMH, Hudock RL, Shanley R, Pierpont EI. Foy AMH, et al. J Neurodev Disord. 2022 Jan 12;14(1):5. doi: 10.1186/s11689-021-09414-w. J Neurodev Disord. 2022. PMID: 35021989 Free PMC article.
BACKGROUND: RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndromes, which include neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, and Costello syndrome …
BACKGROUND: RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndrom …
GH Responsiveness in Children With Noonan Syndrome Compared to Turner Syndrome.
Dahlgren J, Albertsson-Wikland K. Dahlgren J, et al. Front Endocrinol (Lausanne). 2021 Nov 9;12:737893. doi: 10.3389/fendo.2021.737893. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34858328 Free PMC article.
BACKGROUND: Despite different genetic background, Noonan syndrome (NS) shares similar phenotype features to Turner syndrome (TS) such as short stature, webbed neck and congenital heart defects. ...
BACKGROUND: Despite different genetic background, Noonan syndrome (NS) shares similar phenotype features to Turner syndrome …
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Mol Med Rep. 2016. PMID: 27666661 Free PMC article. Review.
However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto-oncogene receptor tyrosine kinase and Ras/mitogen-activated protein kinase. These disorders, which …
However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling …
Randomized Trial of BCG Vaccine to Protect against Covid-19 in Health Care Workers.
Pittet LF, Messina NL, Orsini F, Moore CL, Abruzzo V, Barry S, Bonnici R, Bonten M, Campbell J, Croda J, Dalcolmo M, Gardiner K, Gell G, Germano S, Gomes-Silva A, Goodall C, Gwee A, Jamieson T, Jardim B, Kollmann TR, Lacerda MVG, Lee KJ, Lucas M, Lynn DJ, Manning L, Marshall HS, McDonald E, Munns CF, Nicholson S, O'Connell A, de Oliveira RD, Perlen S, Perrett KP, Prat-Aymerich C, Richmond PC, Rodriguez-Baño J, Dos Santos G, da Silva PV, Teo JW, Villanueva P, Warris A, Wood NJ, Davidson A, Curtis N; BRACE Trial Consortium Group. Pittet LF, et al. N Engl J Med. 2023 Apr 27;388(17):1582-1596. doi: 10.1056/NEJMoa2212616. N Engl J Med. 2023. PMID: 37099341 Free PMC article. Clinical Trial.
Symptomatic Covid-19 and severe Covid-19, the primary outcomes, were assessed at 6 months; the primary analyses involved the modified intention-to-treat population, which was restricted to participants with a negative test for severe acute respiratory syndrome coronavirus …
Symptomatic Covid-19 and severe Covid-19, the primary outcomes, were assessed at 6 months; the primary analyses involved the modified intent …
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study.
Le Quellec A, Edouard T, Audebert-Bellanger S, Pouzet A, Bourdet K, Colson C, Oriot C, Poignant S, Saraux A, Devauchelle-Pensec V. Le Quellec A, et al. Joint Bone Spine. 2022 Jan;89(1):105270. doi: 10.1016/j.jbspin.2021.105270. Epub 2021 Sep 14. Joint Bone Spine. 2022. PMID: 34534690
OBJECTIVES: Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological and haematologic anomalies. ...Our objective was to perform a retrospective study eva …
OBJECTIVES: Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectu …
109 results