Works matching Cornelia de Lange syndrome and genetics

Results: 76

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 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

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 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

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

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

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

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

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

'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

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

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

Development, behaviour and autism in individuals with SMC1A variants.

Published in:

Journal of Child Psychology & Psychiatry, 2019, v. 60, n. 3, p. 305, doi. 10.1111/jcpp.12979

By:

Mulder, Paul A.;
Huisman, Sylvia;
Landlust, Annemiek M.;
Moss, Jo;
Piening, Sigrid;
Hennekam, Raoul C.;
van Balkom, Ingrid D.C.

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

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

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

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

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

Neuroimaging features of Cornelia de Lange syndrome.

Published in:

Pediatric Radiology, 2015, v. 45, n. 8, p. 1198, doi. 10.1007/s00247-015-3300-5

By:

Whitehead, Matthew;
Nagaraj, Usha;
Pearl, Phillip

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

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

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 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

SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.

Published in:

Clinical & Biomedical Research, 2022, v. 42, n. 2, p. 66, doi. 10.22491/2357-9730.117215

By:

Larangeira, Gustavo Henrique Torraca;
Gallo de Souza, Laila Maria Silveira;
Valeriano de Almeida, Julia;
de Araujo Moraes, Yuri Costa;
Santana Correia, Patricia;
Horovitz, Dafne Dain Gandelman;
Llerena Junior, Juan Clinton

Publication type:

Article

SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.

Published in:

Clinical & Biomedical Research, 2022, v. 42, n. 1, p. 66, doi. 10.22491/2357-9730.117215

By:

Torraca Larangeira, Gustavo Henrique;
Silveira Gallo de Souza, Laila Maria;
Valeriano de Almeida, Julia;
Costa de Araujo Moraes, Yuri;
Santana Correia, Patricia;
Gandelman Horovitz, Dafne Dain;
Llerena Junior, Juan Clinton

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

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

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

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

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

Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes.

Published in:

Journal of Intellectual Disability Research, 2011, v. 55, n. 4, p. 397, doi. 10.1111/j.1365-2788.2011.01386.x

By:

Griffith, G. M.;
Hastings, R. P.;
Oliver, C.;
Howlin, P.;
Moss, J.;
Petty, J.;
Tunnicliffe, P.

Publication type:

Article

Variability in genetic syndromes: Some lessons from history.

Published in:

2010

By:

Verri, Annapia;
Oliver, Chris

Publication type:

Editorial

Aesthetic and functional management of a patient with Cornelia de Lange syndrome.

Published in:

Contemporary Clinical Dentistry, 2012, v. 3, n. Supp 1, p. S86, doi. 10.4103/0976-237X.95113

By:

JOHNS, DEXTON ANTONY;
BHONSALE, DNYANESH L.;
SHIVASHANKER, V. Y.;
JOHNS, MANU

Publication type:

Article

Brachman de Lange syndrome.

Published in:

2010

By:

VERMA, LEENA;
PASSI, SIDHI;
GAUBA, KRISHAN

Publication type:

Case Study

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

Published in:

International Archives of Otorhinolaryngology, 2024, v. 28, n. 4, p. e626, doi. 10.1055/s-0044-1788001

By:

Santos, Nayara Pereira;
Silva, Liliane Aparecida Fagundes;
Neves-Lobo, Ivone Ferreira;
Kim, Chong Ae;
Matas, Carla Gentile

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

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

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