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Quoted phrase not found in phrase index: "Cornelia de Lange syndrome 6"
Page 1
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC article.
Primary outcome was the discriminative accuracy of the model predicting Dravet syndrome vs other GEFS+ phenotypes. RESULTS: A total of 1,018 participants were included. ...Model performance was replicated in both validation cohorts 1 (AUC 0.94 [95% CI 0.91-0.97]) an …
Primary outcome was the discriminative accuracy of the model predicting Dravet syndrome vs other GEFS+ phenotypes. RESULTS: A …
Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) With Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications in Obese Patients: A Randomized Clinical Trial.
Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology; Bluth T, Serpa Neto A, Schultz MJ, Pelosi P, Gama de Abreu M; PROBESE Collaborative Group; Bluth T, Bobek I, Canet JC, Cinnella G, de Baerdemaeker L, Gama de Abreu M, Gregoretti C, Hedenstierna G, Hemmes SNT, Hiesmayr M, Hollmann MW, Jaber S, Laffey J, Licker MJ, Markstaller K, Matot I, Mills GH, Mulier JP, Pelosi P, Putensen C, Rossaint R, Schmitt J, Schultz MJ, Senturk M, Serpa Neto A, Severgnini P, Sprung J, Vidal Melo MF, Wrigge H. Writing Committee for the PROBESE Collaborative Group of the PROtective VEntilation Network (PROVEnet) for the Clinical Trial Network of the European Society of Anaesthesiology, et al. JAMA. 2019 Jun 18;321(23):2292-2305. doi: 10.1001/jama.2019.7505. JAMA. 2019. PMID: 31157366 Free PMC article. Clinical Trial.
All patients received volume-controlled ventilation with a tidal volume of 7 mL/kg of predicted body weight. MAIN OUTCOMES AND MEASURES: The primary outcome was a composite of pulmonary complications within the first 5 postoperative days, including respiratory failure, acu …
All patients received volume-controlled ventilation with a tidal volume of 7 mL/kg of predicted body weight. MAIN OUTCOMES AND MEASUR …
Cornelia de Lange syndrome and congenital diaphragmatic hernia.
Gupta VS, Khan AM, Ebanks AH, Lally PA, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group. Gupta VS, et al. J Pediatr Surg. 2021 Apr;56(4):697-699. doi: 10.1016/j.jpedsurg.2020.06.003. Epub 2020 Jun 11. J Pediatr Surg. 2021. PMID: 32762940
PURPOSE: There is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%-20% of CdLS cases. ...Early recognition of these anomalies can assist with counseling and …
PURPOSE: There is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic her …
Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
Ayerza Casas A, Puisac Uriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J. Ayerza Casas A, et al. Med Clin (Barc). 2017 Oct 11;149(7):300-302. doi: 10.1016/j.medcli.2017.03.051. Epub 2017 Jun 16. Med Clin (Barc). 2017. PMID: 28629661 English, Spanish.
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. ...
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or stru …
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J, Penhallow J, Ansari M, Barton S, Bourn D, FitzPatrick DR, Goodship J, Hammond P, Roberts C, Welham A, Oliver C. Moss J, et al. Am J Med Genet A. 2017 Jun;173(6):1566-1574. doi: 10.1002/ajmg.a.38228. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28425213 Free article.
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. ...There is substantial heterogeneity in all aspects of CdL …
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, lim …
Attenuated behaviour in Cornelia de Lange and fragile X syndromes.
Bell L, Oliver C, Wittkowski A, Moss J, Hare D. Bell L, et al. J Intellect Disabil Res. 2018 Jun;62(6):486-495. doi: 10.1111/jir.12481. Epub 2018 Mar 13. J Intellect Disabil Res. 2018. PMID: 29536582
In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive behaviour as longitudinal predictors of attenuated behaviour. METHOD: The Attenuated Behaviour Questionnaire was completed by parents …
In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive …
Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.
Verrotti A, Agostinelli S, Prezioso G, Coppola G, Capovilla G, Romeo A, Striano P, Parisi P, Grosso S, Spalice A, Foiadelli T, Curatolo P, Chiarelli F, Savasta S. Verrotti A, et al. Seizure. 2013 Jun;22(5):356-9. doi: 10.1016/j.seizure.2013.01.017. Epub 2013 Mar 7. Seizure. 2013. PMID: 23473710 Free article.
PURPOSE: Cornelia de Lange (CdLS) syndrome is characterized by multiple congenital anomalies and mental retardation. ...METHODS: we describe a clinical series of fourteen Caucasian CdLS paediatric patients who developed epilepsy, with special reference …
PURPOSE: Cornelia de Lange (CdLS) syndrome is characterized by multiple congenital anomalies and mental retardat …
CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.
Hu Y, Caldwell KJ, Onciu M, Federico SM, Salek M, Lewis S, Lei S, Zhang J, Nichols KE, Takemoto CM, Triplett BM, Farrar JE, Rubnitz JE, Ribeiro RC, Wlodarski MW. Hu Y, et al. Blood Adv. 2022 Jan 25;6(2):521-527. doi: 10.1182/bloodadvances.2021006139. Blood Adv. 2022. PMID: 34710216 Free PMC article.
Secondary myelodysplastic syndromes and acute myeloid leukemia (sMDS/AML) are rare in children and adolescents and have a dismal prognosis. The mainstay therapy is hematopoietic cell transplantation (HCT), but there has been no innovation in cytoreductive regimens. ...Five …
Secondary myelodysplastic syndromes and acute myeloid leukemia (sMDS/AML) are rare in children and adolescents and have a dismal prognosi …
Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.
Cochran L, Welham A, Oliver C, Arshad A, Moss JF. Cochran L, et al. J Autism Dev Disord. 2019 Jun;49(6):2476-2487. doi: 10.1007/s10803-019-03966-6. J Autism Dev Disord. 2019. PMID: 30941551 Free PMC article.
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with …
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up …
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
Trujillano L, Ayerza-Casas A, Puisac B, García GG, Ascaso Á, Latorre-Pellicer A, Arnedo M, Lucia-Campos C, Gil-Salvador M, Kaiser FJ, Ramos FJ, Pié J, Bueno-Lozano G. Trujillano L, et al. Int J Cardiovasc Imaging. 2022 Nov;38(11):2291-2302. doi: 10.1007/s10554-022-02612-0. Epub 2022 May 19. Int J Cardiovasc Imaging. 2022. PMID: 36434327 Free PMC article.
This study assesses a possible cardiac dysfunction in individuals with Cornelia de Lange syndrome (CdLS) without diagnosed congenital heart disease (CHD) and its association with other factors. ...
This study assesses a possible cardiac dysfunction in individuals with Cornelia de Lange syndrome (CdLS) without …
73 results