Results 1 to 10 of about 1,020 (134)

A Report of 2 Cases of Cornelia De Lange Syndrome (CdLS) and an Analysis of Clinical and Genetic Characteristics in a Chinese CdLS Cohort [PDF]

Molecular Genetics & Genomic Medicine, 2020
AbstractBackgroundCornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort ...
Huijuan Zhu, Hui Pan, Shuo Li
exaly   +9 more sources

Identification of a Prenatal Profile of Cornelia De Lange Syndrome (CdLS): A Review of 53 CdLS Pregnancies [PDF]

American Journal of Medical Genetics, Part A, 2012
AbstractCornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS.
Kathleen Loomes, Matthew A Deardorff, Ian D Krantz   +2 more
exaly   +5 more sources

The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature [PDF]

Clinical Case Reports
Key Clinical Message We present a 17‐year‐old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS.
Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W. Owens, Wenying Zhang, Robert J. Hopkin, Amelle Shillington   +6 more
doaj   +3 more sources

Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS). [PDF]

Cureus, 2023
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) involved in the cohesin complex, which plays a critical role in ...
Pimentel Campillo J, Corona Castillo D, Nunez M, Finke Abbott A, Pichardo J.   +4 more
europepmc   +3 more sources

Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology. [PDF]

Stem Cell Res Ther, 2022
Abstract Background Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder which is caused by genetic defects involving the Nipped-B-like protein (NIPBL) gene in the majority of clinical cases (60–70%). Currently, there are no specific cures available for CdLS and clinical management is needed for life.
Umbach A, Maule G, Kheir E, Cutarelli A, Foglia M, Guarrera L, Fava LL, Conti L, Garattini E, Terao M, Cereseto A.   +10 more
europepmc   +4 more sources

Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS) [PDF]

Jurnal Ilmu Keperawatan Anak, 2019
Cornelia de Lange Syndrome (CdLS) adalah gangguan perkembangan multisistem yang dikaitkan dengan gangguan kognitif, malformasi dan gangguan wajah internal yang khas.
Tri Retno Indah Susanti, Meira Erawati, Dwi Retno Nurniningsih   +2 more
doaj   +2 more sources

Cornelia De Lange Syndrome (CdLS): Prenatal and Autopsy Findings [PDF]

Prenatal Diagnosis, 2009
AbstractCornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non‐specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP‐A detected ...
David Chitayat, Karen Chong, Howard Berger   +2 more
exaly   +3 more sources

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. [PDF]

J Med Genet, 2014
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a ...
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.   +74 more
europepmc   +7 more sources

Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)

Stem Cell Research, 2022
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomalies syndrome caused by mutations in the cohesion complex. The mutations in NIPBL, one of cohesion regulatory proteins, are the most frequent cause of CdLS.
Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida   +4 more
doaj   +3 more sources

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). [PDF]

Pediatr Rheumatol Online J
Abstract Background Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)—a cohesinopathy—with comprehensive analysis of the immune and genomic abnormalities.
Boiu S, Paschalidis N, Sentis G, Manolakou T, Nezos A, Gialitakis M, Grigoriou M, Atsali E, Giorgi M, Ntinopoulos A, Mavragani C, Makrythanasis P, Boumpas DT, Banos A.   +13 more
europepmc   +5 more sources