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Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A. Sabus A, et al. Pharmacotherapy. 2019 Jun;39(6):645-664. doi: 10.1002/phar.2238. Epub 2019 Mar 27. Pharmacotherapy. 2019. PMID: 30793794 Free PMC article. Review.
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, pervasive developmental disorders, fragile X syndrome, Rett syndrome, Cornelia de
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan …
HDAC8: a multifaceted target for therapeutic interventions.
Chakrabarti A, Oehme I, Witt O, Oliveira G, Sippl W, Romier C, Pierce RJ, Jung M. Chakrabarti A, et al. Trends Pharmacol Sci. 2015 Jul;36(7):481-92. doi: 10.1016/j.tips.2015.04.013. Epub 2015 May 23. Trends Pharmacol Sci. 2015. PMID: 26013035 Free article. Review.
Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity.
Sanchez AC, Thren ED, Iovine MK, Skibbens RV. Sanchez AC, et al. Cell Cycle. 2022 Mar;21(5):501-513. doi: 10.1080/15384101.2021.2023304. Epub 2022 Jan 6. Cell Cycle. 2022. PMID: 34989322 Free PMC article.
Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including SMC3, CdLS) and ESCO2 (RBS). ...
Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation …
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.
de Graaf M, Kant SG, Wit JM, Willem Redeker EJ, Eduard Santen GW, Henriëtta Verkerk AJM, Uitterlinden AG, Losekoot M, Oostdijk W. de Graaf M, et al. J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):366-370. doi: 10.4274/jcrpe.4349. Epub 2017 Jun 7. J Clin Res Pediatr Endocrinol. 2017. PMID: 28588001 Free PMC article.
Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. ...
Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. ...
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.
Five patients had previously received chemotherapy for osteosarcoma, Ewing sarcoma, neuroblastoma, or T-cell acute lymphoblastic leukemia; 1 had predisposing genomic instability disorder (Cornelia de Lange syndrome) and 1 had MDS-related AML and multiorgan fa …
Five patients had previously received chemotherapy for osteosarcoma, Ewing sarcoma, neuroblastoma, or T-cell acute lymphoblastic leukemia; 1 …
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Yuan B, et al. J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9. J Clin Invest. 2015. PMID: 25574841 Free PMC article. Clinical Trial.
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. ...Here, we …
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic varia …
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.
Moretto A, Scaravilli V, Ciceri V, Bosatra M, Giannatelli F, Ateniese B, Mariani M, Cereda A, Sosio S, Zanella A, Pesenti A, Selicorni A. Moretto A, et al. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):222-8. doi: 10.1002/ajmg.c.31493. Epub 2016 May 4. Am J Med Genet C Semin Med Genet. 2016. PMID: 27145336
Cornelia De Lange syndrome (CdLS) is a rare congenital disease characterized by typical facial dysmorphism, developmental disability, and limb deficiency defects. ...
Cornelia De Lange syndrome (CdLS) is a rare congenital disease characterized by typical facial dysmorphism, development …
Ulerythema ophryogenes: updates and insights.
Morton CM, Bhate C, Janniger CK, Schwartz RA. Morton CM, et al. Cutis. 2014 Feb;93(2):83-7. Cutis. 2014. PMID: 24605344
Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange syndrome, Rubinstein-Taybi syndrome, and cardiofaciocutaneous (CFC) syndrome. ...
Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange
Coats' Disease in a Patient With Cornelia de Lange Syndrome: Management With Laser and Bevacizumab.
Elwood KF, Fleege SM, Bradfield YS, Altaweel MM. Elwood KF, et al. J Pediatr Ophthalmol Strabismus. 2023 Jul-Aug;60(4):e45-e48. doi: 10.3928/01913913-20230619-03. Epub 2023 Jul 1. J Pediatr Ophthalmol Strabismus. 2023. PMID: 37478198
Cornelia de Lange syndrome is a congenital disorder with multisystem abnormalities including multiple ocular findings. The authors report a case of Coats' disease in a patient with Cornelia de Lange syndrome who was successfully treated w …
Cornelia de Lange syndrome is a congenital disorder with multisystem abnormalities including multiple ocular findings. …
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. Epilepsy is a clinical feature found in about 20% of cases, but there are no data about its electroclinical features and long-term outcome. METHODS: we desc …
PURPOSE: Cornelia de Lange (CdLS) syndrome is characterized by multiple congenital anomalies and mental retardation. Epilepsy is a clinic
38 results