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Quoted phrase not found in phrase index: "Noonan syndrome 5"
Page 1
Neuromyelitis optica spectrum disorders.
Huda S, Whittam D, Bhojak M, Chamberlain J, Noonan C, Jacob A. Huda S, et al. Clin Med (Lond). 2019 Mar;19(2):169-176. doi: 10.7861/clinmedicine.19-2-169. Clin Med (Lond). 2019. PMID: 30872305 Free PMC article. Review.
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postrema syndrome) are classic presentations of the disease and may alert the clinician to the diagnosis. Untreated, approximately 50% of N …
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postre …
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. The con …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-g …
Encephalocraniocutaneous Lipomatosis.
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R. Bavle A, et al. J Pediatr Hematol Oncol. 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. J Pediatr Hematol Oncol. 2018. PMID: 29683947
A 5-year-old boy presented with worsening headaches for 3 months. ...Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encepha …
A 5-year-old boy presented with worsening headaches for 3 months. ...Targeted sequencing of tissue from the right gluteal mass, revea …
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 …
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo F, Fachin A, Da Re B, Rubinato E, Bobbo M, Barbi E. Baldo F, et al. BMC Pediatr. 2022 Dec 24;22(1):734. doi: 10.1186/s12887-022-03804-2. BMC Pediatr. 2022. PMID: 36566191 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. ...The association between discrete variables has been evaluated through chi-squared test, indicating statistically significant p with Pearson test or Fischer test for variables …
BACKGROUND: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. ...The association between discrete v …
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. ...Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noon …
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardia …
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 …
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 …
Novel approaches to diagnosis and treatment of Juvenile Myelomonocytic Leukemia.
Locatelli F, Algeri M, Merli P, Strocchio L. Locatelli F, et al. Expert Rev Hematol. 2018 Feb;11(2):129-143. doi: 10.1080/17474086.2018.1421937. Epub 2018 Jan 3. Expert Rev Hematol. 2018. PMID: 29279013 Review.
Conversely, a 'watch and wait' strategy should be adopted in children with germline CBL mutations, specific somatic NRAS mutation, and in Noonan syndrome patients, since spontaneous resolution has been reported to occur. Novel drugs targeting relevant nodes of JMML …
Conversely, a 'watch and wait' strategy should be adopted in children with germline CBL mutations, specific somatic NRAS mutation, and in …
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 …
254 results