Works matching Cornelia de Lange syndrome and genetics

Results: 79

Cornelia de Lange 综合征患者临床特征及其遗传学分析 2 例报告及文献复习.

Published in:

Journal of Jilin University (Medicine Edition), 2025, v. 51, n. 2, p. 501, doi. 10.13481/j.1671⁃587X.20250225

By:

蔡美娇;
陈佳燕;
马小敏;
黄燕茹;
张剑;
葛运生

Publication type:

Article

Genetic characterization of a patient with Cornelia de Lange syndrome with a novel NIPBL missense mutation.

Published in:

Middle East Journal of Medical Genetics, 2020, v. 9, n. 1, p. 1

By:

Dalia, F Hussen;
Saida, A Hammad;
Ghada, A Otaify;
Alaaeldin, G Fayez;
Khaled, M Refaat;
Elaidy, Aya;
Mona, S Aglan;
Samia, A Temtamy

Publication type:

Article

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70009

By:

Yue, Xinyu;
Chen, Meiping;
Ke, Xiaoan;
Yang, Hongbo;
Gong, Fengying;
Wang, Linjie;
Duan, Lian;
Pan, Hui;
Zhu, Huijuan

Publication type:

Article

Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2318

By:

Peng, Yin;
Zhu, Ying;
Wu, Lin;
Deng, Fang

Publication type:

Article

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1471

By:

Liu, Chen;
Li, Xiaoying;
Cui, Jing;
Dong, Rui;
Lv, Yvqiang;
Wang, Dong;
Zhang, Haiyan;
Li, Xiaomei;
Li, Zilong;
Ma, Jian;
Liu, Yi;
Gai, Zhongtao

Publication type:

Article

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1225

By:

Li, Shuo;
Miao, Hui;
Yang, Hongbo;
Wang, Linjie;
Gong, Fengying;
Chen, Shi;
Zhu, Huijuan;
Pan, Hui

Publication type:

Article

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1066

By:

Li, Shuo;
Miao, Hui;
Yang, Hongbo;
Wang, Linjie;
Gong, Fengying;
Chen, Shi;
Zhu, Huijuan;
Pan, Hui

Publication type:

Article

General movements in genetic disorders: A first look into Cornelia de Lange syndrome.

Published in:

Developmental Neurorehabilitation, 2015, v. 18, n. 4, p. 280, doi. 10.3109/17518423.2013.859180

By:

Marschik, Peter B.;
Soloveichick, Marina;
Windpassinger, Christian;
Einspieler, Christa

Publication type:

Article

Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.

Published in:

Child's Nervous System, 2015, v. 31, n. 1, p. 141, doi. 10.1007/s00381-014-2504-6

By:

Chico-Ponce de León, Fernando;
Gordillo-Domínguez, Luis;
González-Carranza, Vicente;
Torres-García, Samuel;
García-Delgado, Constanza;
Sánchez-Boiso, Adriana;
Arenas-Huertero, Francisco;
Perezpeña-Diazconti, Mario;
Eguía-Aguilar, Pilar;
Baqueiro-Hernández, César;
Buenrostro-Márquez, Guillermo;
Martínez-Rodríguez, Sonia;
Dhellemmes, Patrick;
Castro-Sierra, Eduardo

Publication type:

Article

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

Published in:

2018

By:

Hei, Mingyan;
Gao, Xiangyu;
Wu, Lingqian

Publication type:

journal article

Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 146, doi. 10.1002/ajmg.c.31491

By:

Lopez‐Burks, Martha E.;
Santos, Rosaysela;
Kawauchi, Shimako;
Calof, Anne L.;
Lander, Arthur D.

Publication type:

Article

Sindromul Cornelia de Lange.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2016, v. 19, n. 4, p. 55

By:

Dragomir, Cristina;
Jucuți, Iuliana;
Gheorghiu, Lorica Gabriela;
Enache, Cristina;
Popescu, Silvia;
Corcheș, Axinia

Publication type:

Article

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Published in:

2018

By:

Paulraj, Prabakaran;
Palumbos, Janice C.;
Openshaw, amanda;
Carey, John C.;
Toydemir, Reha M.

Publication type:

Case Study

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2018, v. 47, n. 6, p. 2388, doi. 10.1159/000491613

By:

Gao, Xueren;
Huang, Zhuo;
Fan, Yanjie;
Sun, Yu;
Liu, Huili;
Wang, Lili;
Gu, Xue-Fan;
Yu, Yongguo

Publication type:

Article

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

Published in:

Stem Cell Research & Therapy, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13287-022-03135-0

By:

Umbach, Alessandro;
Maule, Giulia;
Kheir, Eyemen;
Cutarelli, Alessandro;
Foglia, Marika;
Guarrera, Luca;
Fava, Luca L.;
Conti, Luciano;
Garattini, Enrico;
Terao, Mineko;
Cereseto, Anna

Publication type:

Article

Hipernatremik Dehidratasyon Atakları ile Gelen Cornelia De Lange Sendromu.

Published in:

Medical Journal of Bakirkoy, 2013, v. 9, n. 4, p. 186, doi. 10.5350/BTDMJB201309408

By:

Hızarcıoğlu, Murat;
Gülez, Pamir;
Tırak, Deniz

Publication type:

Article

Cornelia de Lange 综合征首个国际共识的解读.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 8, p. 815, doi. 10.7499/j.issn.1008-8830.2002010

By:

周平;
朱琳;
范琼丽;
陈立

Publication type:

Article

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

Published in:

2018

By:

Adams, Dawn;
Hastings, Richard P;
Alston-Knox, Clair;
Cianfaglione, Rina;
Eden, Kate;
Felce, David;
Griffith, Gemma;
Moss, Jo;
Stinton, Chris;
Oliver, Chris

Publication type:

journal article

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.

Published in:

2017

By:

Avagliano, Laura;
Grazioli, Paolo;
Mariani, Milena;
Bulfamante, Gaetano P.;
Selicorni, Angelo;
Massa, Valentina

Publication type:

journal article

Differences in the Information Needs of Parents With a Child With a Genetic Syndrome: A Cross‐Syndrome Comparison.

Published in:

Journal of Policy & Practice in Intellectual Disabilities, 2018, v. 15, n. 2, p. 94, doi. 10.1111/jppi.12231

By:

Pearson, Effie Victoria;
Waite, Jane;
Oliver, Christopher

Publication type:

Article

A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome.

Published in:

Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/6482938

By:

Rodríguez, Pamela;
Asturias, Karla

Publication type:

Article

Cornelia de Lange Sendromu ye Konjenital Umblikal Herni.

Published in:

Journal of the Child / Çocuk Dergisi, 2013, v. 13, n. 1, p. 40, doi. 10.5222/j.child.2013.040

By:

İLİK, Faik;
ÇAKSEN, Hüseyin

Publication type:

Article

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2022.2022-4-14

By:

Ascaso, Ángela;
Latorre-Pellicer, Ana;
Puisac, Beatriz;
Trujillano, Laura;
Arnedo, María;
Parenti, Ilaria;
Llorente, Elena;
José Puente-Lanzarote, Juan;
Matute-Llorente, Ángel;
Ayerza-Casas, Ariadna;
Kaiser, Frank J.;
Ramos, Feliciano J.;
Pié Juste, Juan;
Bueno-Lozano, Gloria

Publication type:

Article

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02153-0

By:

Uwibambe, Esther;
Yalcouyé, Abdoulaye;
Aboagye, Elvis Twumasi;
Xhakaza, Lettilia;
Popel, Kalinka;
Dukuze, Norbert;
Bharadwaj, Thashi;
de Kock, Carmen;
Schrauwen, Isabelle;
Leal, Suzanne M.;
Mutesa, Leon;
Wonkam, Ambroise

Publication type:

Article

Cornelia de Lange syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S069
Publication type:: Article

Anaesthesia recommendations for Cornelia de Lange syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2021, v. 62, n. 3, p. S69, doi. 10.19224/ai2021.S069

By:

Ramos, Feliciano;
Bisgaard, Anne-Marie

Publication type:

Article

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.

Published in:

Genes, 2023, v. 14, n. 12, p. 2212, doi. 10.3390/genes14122212

By:

Abarca-Barriga, Hugo H.;
Punil Luciano, Renzo;
Vásquez Sotomayor, Flor

Publication type:

Article

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

Published in:

Genes, 2023, v. 14, n. 1, p. 119, doi. 10.3390/genes14010119

By:

De Falco, Alessandro;
De Brasi, Daniele;
Della Monica, Matteo;
Cesario, Claudia;
Petrocchi, Stefano;
Novelli, Antonio;
D'Alterio, Giuseppe;
Iolascon, Achille;
Capasso, Mario;
Piscopo, Carmelo

Publication type:

Article

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

Published in:

Genes, 2022, v. 13, n. 8, p. 1413, doi. 10.3390/genes13081413

By:

Lucia-Campos, Cristina;
Valenzuela, Irene;
Latorre-Pellicer, Ana;
Ros-Pardo, David;
Gil-Salvador, Marta;
Arnedo, María;
Puisac, Beatriz;
Castells, Neus;
Plaja, Alberto;
Tenes, Anna;
Cuscó, Ivon;
Trujillano, Laura;
Ramos, Feliciano J.;
Tizzano, Eduardo F.;
Gómez-Puertas, Paulino;
Pié, Juan

Publication type:

Article

A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome.

Published in:

Genes, 2022, v. 13, n. 5, p. 740, doi. 10.3390/genes13050740

By:

Chen, Yonghua;
Chen, Qingqing;
Yuan, Ke;
Zhu, Jianfang;
Fang, Yanlan;
Yan, Qingfeng;
Wang, Chunlin

Publication type:

Article

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.

Published in:

Genes, 2021, v. 12, n. 7, p. 1075, doi. 10.3390/genes12071075

By:

Selicorni, Angelo;
Mariani, Milena;
Lettieri, Antonella;
Massa, Valentina

Publication type:

Article

Carer-Reported Contemporary Health Problems in People With Severe and Profound Intellectual Disability and Genetic Syndromes.

Published in:

Journal of Policy & Practice in Intellectual Disabilities, 2007, v. 4, n. 2, p. 120, doi. 10.1111/j.1741-1130.2007.00109.x

By:

Berg, Katy;
Arron, Kate;
Burbidge, Cheryl;
Moss, Joanna;
Oliver, Chris

Publication type:

Article

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report.

Published in:

Children, 2024, v. 11, n. 12, p. 1433, doi. 10.3390/children11121433

By:

Choi, So Yoon;
Hong, Yoo-Rha;
Oh, Chi-Eun;
Lee, Jung Hyun

Publication type:

Article

敲低 NIPBL 基因调控小鼠骨髓间充质干细胞向软骨的分化.

Published in:

Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu, 2023, v. 23, n. 10, p. 1477, doi. 10.12307/2023.288

By:

马雯晴;
张惠荣;
刘辉;
董丽丽;
杨眷娣

Publication type:

Article

敲除NIPBL基因可下调小鼠骨髓间充质干细胞增殖及成骨分化能力.

Published in:

Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu, 2020, v. 24, n. 7, p. 1002, doi. 10.3969/j.issn.2095-4344.2029

By:

林明;
潘金勇1,k;
张惠荣

Publication type:

Article

Divergent presentation of anxiety in high-risk groups within the intellectual disability population.

Published in:

Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09462-w

By:

Groves, Laura;
Moss, Joanna;
Oliver, Chris;
Royston, Rachel;
Waite, Jane;
Crawford, Hayley

Publication type:

Article

Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis.

Published in:

Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9269-x

By:

Groves, Laura;
Moss, Joanna;
Crawford, Hayley;
Nelson, Lisa;
Stinton, Chris;
Singla, Gursharan;
Oliver, Chris

Publication type:

Article

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

Published in:

2019

By:

Krawczynska, Natalia;
Wierzba, Jolanta;
Jasiecki, Jacek;
Wasag, Bartosz

Publication type:

Case Study

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78205-5

By:

Li, Qun;
Chang, Guoying;
Yin, Lei;
Li, Juan;
Huang, Xiaodong;
Shen, Yongnian;
Li, Guoqiang;
Xu, Yufei;
Wang, Jian;
Wang, Xiumin

Publication type:

Article

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.699894

By:

Peng, Ying;
Liang, Changbiao;
Xi, Hui;
Yang, Shuting;
Hu, Jiancheng;
Pang, Jialun;
Liu, Jing;
Luo, Yingchun;
Tang, Chengyuan;
Xie, Wanqin;
Wang, Hua

Publication type:

Article

l-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 6, p. 1540, doi. 10.1093/hmg/ddu565

By:

Xu, Baoshan;
Sowa, Nenja;
Cardenas, Maria E.;
Gerton, Jennifer L.

Publication type:

Article

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888

By:

Kaiser, Frank J.;
Ansari, Morad;
Braunholz, Diana;
Concepción Gil-Rodríguez, María;
Decroos, Christophe;
Wilde, Jonathan J.;
Fincher, Christopher T.;
Kaur, Maninder;
Bando, Masashige;
Amor, David J.;
Atwal, Paldeep S.;
Bahlo, Melanie;
Bowman, Christine M.;
Bradley, Jacquelyn J.;
Brunner, Han G.;
Clark, Dinah;
Del Campo, Miguel;
Di Donato, Nataliya;
Diakumis, Peter;
Dubbs, Holly

Publication type:

Article

Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.886235

By:

Yiding Shen;
Dongyan Zhao;
Long Sun;
Xiuzhen Yang;
Xiang Yan

Publication type:

Article

'Our nurse has been an amazing advocate for our non-verbal child'.

Published in:

Nursing Standard, 2017, v. 31, n. 23, p. 65, doi. 10.7748/ns.31.23.65.s48

By:

McCay, Louise

Publication type:

Article

Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.

Published in:

Fetal & Pediatric Pathology, 2024, v. 43, n. 6, p. 477, doi. 10.1080/15513815.2024.2412847

By:

Della Giustina, Elvio;
Salviato, Tiziana;
Caramaschi, Stefania;
Fabbiani, Luca;
Reggiani Bonetti, Luca

Publication type:

Article

Diphenhydramine-Refractory Antipsychotic-Induced Dystonia in an Adolescent Male With Cornelia de Lange Syndrome.

Published in:

2019

By:

Small, Stephen M.;
Bacher, Rachel S.

Publication type:

Case Study

Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2423, doi. 10.3390/jcm13082423

By:

Gruca-Stryjak, Karolina;
Doda-Nowak, Emilia;
Dzierla, Julia;
Wróbel, Karolina;
Szymankiewicz-Bręborowicz, Marta;
Mazela, Jan

Publication type:

Article

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0053-y

By:

Chinen, Yasutsugu;
Nakamura, Sadao;
Kaneshi, Takuya;
Nakayashiro, Mami;
Yanagi, Kumiko;
Kaname, Tadashi;
Naritomi, Kenji;
Nakanishi, Koichi

Publication type:

Article

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.

Published in:

2025

By:

Pappas, Annie;
Mooney, Mary;
Kohnen, Katherine;
Owens, Joshua W.;
Zhang, Wenying;
Hopkin, Robert J.;
Shillington, Amelle

Publication type:

Case Study

Cornelia De Lange Syndrome: A Case Report of an Iranian Turkmen Girl with Clinical Presentation.

Published in:

Journal of Pioneering Medical Sciences, 2018, v. 8, n. 2, p. 51

By:

Bazrafshan, Behnaz;
Hosseininejad, Seyyed-Mohsen;
Abadi, Alireza Kargar Dolat;
Lotfian, Ferial;
Alaee, Ehsan;
Esmaeili, Hassan

Publication type:

Article