Works matching Cornelia de Lange syndrome
Results: 521
Cornelia de Lange 综合征首个国际共识的解读.
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- Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 8, p. 815, doi. 10.7499/j.issn.1008-8830.2002010
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Cornelia de Lange syndrome associated with cecal volvulus: report of a case.
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- Acta Paediatrica, 2001, v. 90, n. 6, p. 701, doi. 10.1111/j.1651-2227.2001.tb02437.x
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Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 5, p. 1, doi. 10.1002/mgg3.2447
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Anesthetic management of a patient with Cornelia De Lange syndrome.
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- 2016
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- Case Study
Sindromul Cornelia de Lange.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2016, v. 19, n. 4, p. 55
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Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.
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- Fetal & Pediatric Pathology, 2024, v. 43, n. 6, p. 477, doi. 10.1080/15513815.2024.2412847
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Neuroimaging features of Cornelia de Lange syndrome.
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- Pediatric Radiology, 2015, v. 45, n. 8, p. 1198, doi. 10.1007/s00247-015-3300-5
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Assessment and treatment of stereotypy in an individual with Cornelia de Lange syndrome and deafblindness.
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- Journal of Intellectual & Developmental Disability, 2014, v. 39, n. 4, p. 375, doi. 10.3109/13668250.2014.953464
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Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis.
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- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9269-x
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Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome.
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- 2015
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- Case Study
Chromatinopathies: A focus on Cornelia de Lange syndrome.
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- Clinical Genetics, 2020, v. 97, n. 1, p. 3, doi. 10.1111/cge.13674
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
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- Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
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Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Castronovo et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 560, doi. 10.1111/j.1399-0004.2010.01408.x
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Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.
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- 2016
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- journal article
Leigh's Disease with Clinical Manifestations of Cornelia de Lange Syndrome.
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- Pediatric Neurosurgery, 1991, v. 17, n. 4, p. 192, doi. 10.1159/000120594
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Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes.
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- Journal of Intellectual Disability Research, 2020, v. 64, n. 2, p. 117, doi. 10.1111/jir.12702
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Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes.
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- Journal of Intellectual Disability Research, 2011, v. 55, n. 4, p. 397, doi. 10.1111/j.1365-2788.2011.01386.x
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Infant attentional behaviours as prognostic indicators in Cornelia-de-Lange syndrome.
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- Journal of Intellectual Disability Research, 2007, v. 51, n. 9, p. 697, doi. 10.1111/j.1365-2788.2007.00975.x
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The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.
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- Journal of Intellectual Disability Research, 2005, v. 49, n. 4, p. 269, doi. 10.1111/j.1365-2788.2005.00649.x
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Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome.
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- Journal of Intellectual Disability Research, 1997, v. 41, n. 1, p. 70, doi. 10.1111/j.1365-2788.1997.tb00678.x
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Unpredictable drug reaction in a child with Cornelia de Lange syndrome.
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- 2015
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- Report
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature.
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- 2014
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- Case Study
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
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- 2019
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- Case Study
Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report.
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- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00142-3
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Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01454-3
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Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.
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- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 6, p. 2476, doi. 10.1007/s10803-019-03966-6
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High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
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- 2021
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- journal article
A case of third trimester diagnosis of Cornelia de Lange syndrome.
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- 2011
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- journal article
Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype.
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- Fetal Diagnosis & Therapy, 2009, v. 26, n. 1, p. 50, doi. 10.1159/000236361
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Sindrom Cornelia de Lange asociat cu anomalie congenitală de cord. Prezentare de caz.
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- Ginecologia.ro, 2015, v. 3, n. 9, p. 56
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Cornelia de Lange Syndrome.
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- Neonatal Network, 2022, v. 41, n. 3, p. 145, doi. 10.1891/NN-2021-0011
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An eighteen month-old infant with Cornelia de Lange syndrome: a case report.
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- 2015
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- Case Study
Delineafing the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes.
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- American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 1, p. 55, doi. 10.1352/1944-7558-118.1.55
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Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
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- 2017
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- journal article
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19 / IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
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- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1622, doi. 10.3390/biom11111622
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Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.886235
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Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.
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- Cell Death & Disease, 2013, v. 4, n. 10, p. 1, doi. 10.1038/cddis.2013.371
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Cornelia de-Lange syndrome.
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- 2005
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- journal article
Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.
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- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2423, doi. 10.3390/jcm13082423
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Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70009
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Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2318
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A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1612
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Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1471
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1318
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A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1066
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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
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- Pediatric Rheumatology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12969-024-01050-7
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The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.
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- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05481-z
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Perioperative Management of a Patient With Cornelia de Lange Syndrome and Tetralogy of Fallot.
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- 2019
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- journal article
Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.
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- Cells (2073-4409), 2024, v. 13, n. 23, p. 2025, doi. 10.3390/cells13232025
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Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00255
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- Article