Works matching Cornelia de Lange syndrome and genetics

Results: 71

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

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

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

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

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

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

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

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.

Published in:

Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05481-z

By:

Foglia, Marika;
Guarrera, Luca;
Kurosaki, Mami;
Cassanmagnago, Giada Andrea;
Bolis, Marco;
Miduri, Matteo;
Cereseto, Anna;
Umbach, Alessandro;
Craparotta, Ilaria;
Fratelli, Maddalena;
Vallerga, Arianna;
Paroni, Gabriela;
Zanetti, Adriana;
Cavallaro, Andrea Vincenzo;
Russo, Luca;
Garattini, Enrico;
Terao, Mineko

Publication type:

Article

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

Синдром на Корнелия де Ланге - представяне на класически и некласически вариант.

Published in:

Pediatria, 2020, v. 60, n. 4, p. 60

By:

Хачмериян, М.;
Стоянова, М.;
Левкова, М.;
Галчева, С.;
Авджиева, Д.;
Делчев, Т.;
Тихонова, Й.;
Йотова, В.;
Ангелова, Л.

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

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

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.

Published in:

Cell Death & Disease, 2013, v. 4, n. 10, p. 1, doi. 10.1038/cddis.2013.371

By:

Pistocchi, A.;
Fazio, G.;
Cereda, A.;
Ferrari, L.;
Bettini, L.R.;
Messina, G.;
Cotelli, F.;
Biondi, A.;
Selicorni, A.;
Massa, V.

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

Cornelia de Lange syndrome: A case series from a resource-limited country.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 334, doi. 10.4103/JPN.JPN_25_18

By:

Sharawat, Indar;
Dawman, Lesa

Publication type:

Article

Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 334, doi. 10.4103/jpn.JPN_25_18

By:

Sharawat, Indar K.;
Dawman, Lesa

Publication type:

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

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

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

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

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 1, p. 3, doi. 10.1111/cge.13674

By:

Avagliano, Laura;
Parenti, Ilaria;
Grazioli, Paolo;
Di Fede, Elisabetta;
Parodi, Chiara;
Mariani, Milena;
Kaiser, Frank J.;
Selicorni, Angelo;
Gervasini, Cristina;
Massa, Valentina

Publication type:

Article

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720

By:

Nizon, M.;
Henry, M.;
Michot, C.;
Baumann, C.;
Bazin, A.;
Bessières, B.;
Blesson, S.;
Cordier‐Alex, M.‐P.;
David, A.;
Delahaye‐Duriez, A.;
Delezoïde, A.‐L.;
Dieux‐Coeslier, A.;
Doco‐Fenzy, M.;
Faivre, L.;
Goldenberg, A.;
Layet, V.;
Loget, P.;
Marlin, S.;
Martinovic, J.;
Odent, S.

Publication type:

Article

Manejo odontológico en paciente con síndrome de Cornelia de Lange.

Published in:

Revista ADM, 2023, v. 80, n. 5, p. 274, doi. 10.35366/113139

By:

de Jesús Lozoya-Ramírez, María;
Martínez-Rider, Ricardo;
Márquez-Preciado, Raúl;
Ortiz-Magdaleno, Marine;
Alejandri-Gamboa, Vanessa

Publication type:

Article

Anesthesia Management in a Rare Syndrome "Cornelia de Lange".

Published in:

Türkiye Klinikleri Journal of Case Reports, 2021, v. 29, n. 4, p. 187, doi. 10.5336/caserep.2021-82346

By:

YAKUT ÖZDEMİR, Özlem;
CEYLAN ARI, Şeyda;
GÜNÜŞEN, İlkben

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

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

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

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

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

Cornelia de Lange syndrome -- a rarely seen disorder.

Published in:

2015

By:

Çekmez, Y.;
Pişkinpaşa, N.;
Tos, T.

Publication type:

Case Study

Cornelia de lange manifestations in otolaryngology: A systematic review and meta-analysis.

Published in:

2020

By:

Bergeron, Mathieu;
Chang, Katherine;
Ishman, Stacey L.

Publication type:

journal article

Importance of perinatal care for pregnant women with severe fetal multiple limb abnormalities.

Published in:

Case Reports in Perinatal Medicine, 2016, v. 5, n. 2, p. 121, doi. 10.1515/crpm-2015-0101

By:

Sawanobori, Yukiko;
Hasegawa, Junichi;
Nakamura, Masamitsu;
Hamada, Shoko;
Matsuoka, Ryu;
Sekizawa, Akihiko

Publication type:

Article

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1056127

By:

Meizhen Shi;
Yuying Liang;
Bobo Xie;
Xianda Wei;
Haiyang Zheng;
Chunrong Gui;
Rong Huang;
Xin Fan;
Chuan Li;
Xiaojiao Wei;
Yunting Ma;
Shaoke Chen;
Yujun Chen;
Baoheng Gui

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

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01454-3

By:

Onesimo, Roberta;
Santis, Rita De;
Leoni, Chiara;
Rigante, Mario;
Piastra, Marco;
Sforza, Elisabetta;
Selicorni, Angelo;
Zampino, Giuseppe

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

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

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

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

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

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70058

By:

Yang, Ying;
Chen, Liqing;
Wang, Zhenzhen;
Ding, Yaling;
Liu, Yan

Publication type:

Article

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 5, p. 1, doi. 10.1002/mgg3.2447

By:

Lei, Zhi;
Song, Xiaorui;
Zheng, Xuan;
Wang, Yanhong;
Wang, Yingyuan;
Wu, Zhirong;
Fan, Tian;
Dong, Shijie;
Cao, Honghui;
Zhao, Yuefang;
Xia, Zhiyi;
Gao, Liujiong;
Shang, Qing;
Mei, Shiyue

Publication type:

Article

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

Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes.

Published in:

Journal of Intellectual Disability Research, 2020, v. 64, n. 2, p. 117, doi. 10.1111/jir.12702

By:

Heald, M.;
Adams, D.;
Oliver, C.

Publication type:

Article