Works matching De Lange's syndrome

Results: 564

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

An eighteen month-old infant with Cornelia de Lange syndrome: a case report.

Published in:

2015

By:

saeidi, Reza;
saeidi, Maryam;
adineh, Majtaba

Publication type:

Case Study

Cornelia de Lange Syndrome.

Published in:

Neonatal Network, 2022, v. 41, n. 3, p. 145, doi. 10.1891/NN-2021-0011

By:

Deschamps, Gabrielle N.

Publication type:

Article

Delineafing the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 1, p. 55, doi. 10.1352/1944-7558-118.1.55

By:

Moss, Joanna;
Oliver, Chris;
Nelson, Lisa;
Richards, Caroline;
Hall, Scott

Publication type:

Article

DISFAGIA OROFARÍNGEA EM CRIANÇAS COM SÍNDROME CORNÉLIA DE LANGE.

Published in:

Revista CEFAC, 2010, v. 12, n. 5, p. 803, doi. 10.1590/S1516-18462010005000111

By:

Foroni, Priscila Martins;
Beato, Anne Marques;
Valarelli, Liciane Pinelli;
Trawitzki, Luciana Vitaliano Voi

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

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome.

Published in:

2015

By:

Parisi, Lucia;
Di Filippo, Teresa;
Roccella, Michele

Publication type:

Case Study

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

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

Published in:

2016

By:

Santoro, Claudia;
Apicella, Andrea;
Casale, Fiorina;
Manna, Angela La;
Di Martino, Martina;
Di Pinto, Daniela;
Indolfi, Cristiana;
Perrotta, Silverio;
La Manna, Angela

Publication type:

journal article

The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 4, p. 269, doi. 10.1111/j.1365-2788.2005.00649.x

By:

Moss, J.;
Oliver, C.;
Hall, S.;
Arron, K.;
Sloneem, J.;
Petty, J.

Publication type:

Article

Cornelia de Lange Syndrome - a cause of hypertrichosis in children: case report and review of literature.

Published in:

2011

By:

Malik, Lamees Mahmood;
Khan, Ghazala Aziz;
Azfar, Nadia Ali;
Jahangir, Muhammad

Publication type:

Case Study

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

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

Severe Neonatal Thrombocytopenia in a Case of Cornelia de Lange Syndrome.

Published in:

2016

By:

Gupta, Priyanka;
Kumar, Sandeep;
Arora, Suman;
Devgan, Veena

Publication type:

Case Study

Unpredictable drug reaction in a child with Cornelia de Lange syndrome.

Published in:

2015

By:

Stevic, Marija;
Milojevic, Irina;
Bokun, Zlatko;
Simic, Dusica

Publication type:

Report

Assessment and treatment of stereotypy in an individual with Cornelia de Lange syndrome and deafblindness.

Published in:

Journal of Intellectual & Developmental Disability, 2014, v. 39, n. 4, p. 375, doi. 10.3109/13668250.2014.953464

By:

Lanovaz, Marc J.;
Rapp, John T.;
Maciw, Isabella

Publication type:

Article

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature.

Published in:

2014

By:

Shenoy, Bhamy Hariprasad;
Gupta, Amit;
Sachdeva, Virender;
Kekunnaya, Ramesh

Publication type:

Case Study

Anesthetic management of a patient with Cornelia De Lange syndrome.

Published in:

2016

By:

Gaur, Pallavi;
Ubale, Pravin;
Baldwa, Namita;
Gujjar, Pinakin

Publication type:

Case Study

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2011, v. 24, n. 7, p. 978, doi. 10.3109/14767058.2010.531312

By:

Weichert, Jan;
Schröer, Andreas;
Beyer, Daniel Alexander;
Gillessen-Kaesbach, Gabriele;
Stefanova, Irina

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

Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 6, p. 2476, doi. 10.1007/s10803-019-03966-6

By:

Cochran, Lisa;
Welham, Alice;
Oliver, Chris;
Arshad, Adam;
Moss, Joanna F.

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

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 in an Egyptian infant with unusual bone deformities.

Published in:

2013

By:

Shawky, Rabah M.;
Abd-Elkhalek, Heba Salah;
Gad, Shimaa;
Abdelsattar Mohammad, Shaimaa;
Seifeldin, Neven S.

Publication type:

Case Study

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 481, doi. 10.3390/ijms18030481

By:

Puisac, Beatriz;
Teresa-Rodrigo, María-Esperanza;
Hernández-Marcos, María;
Baquero-Montoya, Carolina;
Gil-Rodríguez, María-Concepción;
Visnes, Torkild;
Bot, Christopher;
Gómez-Puertas, Paulino;
Kaiser, Frank J.;
Ramos, Feliciano J.;
Ström, Lena;
Pié, Juan

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

Characteristics of autism spectrum disorder in Cornelia de Lange syndrome.

Published in:

Journal of Child Psychology & Psychiatry, 2012, v. 53, n. 8, p. 883, doi. 10.1111/j.1469-7610.2012.02540.x

By:

Moss, Jo;
Howlin, Patricia;
Magiati, Iliana;
Oliver, Chris

Publication type:

Article

Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 5, p. 1748, doi. 10.1007/s10803-020-04617-x

By:

Srivastava, Siddharth;
Clark, Bennett;
Landy-Schmitt, Colleen;
Offermann, Elizabeth A.;
Kline, Antonie D.;
Wilkinson, Samuel T.;
Grados, Marco A.

Publication type:

Article

Spinal anesthesia in a child with Brachmann-de Lange (Cornelia de Lange) syndrome.

Published in:

Journal of Anesthesia, 2010, v. 24, n. 6, p. 942, doi. 10.1007/s00540-010-1026-y

By:

Kachko, Ludmyla;
Sanko, Elena;
Freud, Enrique;
Katz, Jacob

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

Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2015, v. 35, n. 1, p. 270, doi. 10.1159/000369694

By:

Cao, Ruixue;
Pu, Tian;
Fang, Shaohai;
Long, Fei;
Xie, Jing;
Xu, Yuejuan;
Chen, Sun;
Sun, Kun;
Xu, Rang

Publication type:

Article

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 4, p. 505, doi. 10.1038/sj.ejhg.5201776

By:

Bhuiyan, Zahurul A.;
Stewart, Helen;
Redeker, Egbert J.;
Mannens, Marcel M. A. M.;
Hennekam, Raoul C. M.

Publication type:

Article

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

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

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 4, p. 366, doi. 10.4274/jcrpe.4349

By:

de Graaf, Michael;
Kant, Sarina G.;
Wit, Jan Maarten;
Willem Redeker, Egbert Johan;
Eduard Santen, Gijs Willem;
Henriëtta Verkerk, Annemieke Johanna Maria;
Uitterlinden, André Gerardus;
Losekoot, Monique;
Oostdijk, Wilma

Publication type:

Article

Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499

By:

Boyle, M.I.;
Jespersgaard, C.;
Brøndum‐Nielsen, K.;
Bisgaard, A.‐M.;
Tümer, Z.

Publication type:

Article

Speech-Language and Audiological Profile of Cornelia De Lange Syndrome: A Case Report.

Published in:

Language in India, 2016, v. 16, n. 7, p. 81

By:

Chowdhury, Kamalika;
Keshree, Nirnay Kumar;
Pathak, Ayushi

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

Gastroesophageal Reflux and Reflux Oesophageal Strictures in Children with Cornelia de Lange Syndrome.

Published in:

2013

By:

Vincent, M. V.;
Duncan, N. D.

Publication type:

Case Study

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

Our Outpatient Anesthesia Management in a Pediatric Case with Cornelia de Lange Syndrome.

Published in:

Turkiye Klinikleri Journal of Anesthesiology Reanimation, 2022, v. 20, n. 2, p. 77, doi. 10.5336/anesthe.2022-89816

By:

ARSLAN, Kadir;
GÜLLEROĞLU, Aykan

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

A Longitudinal Follow-Up Study of Affect in Children and Adults With Cornelia de Lange Syndrome.

Published in:

American Journal on Intellectual & Developmental Disabilities, 2014, v. 119, n. 3, p. 235, doi. 10.1352/1944-7558-119.3.235

By:

Nelson, Lisa;
Moss, Jo;
Oliver, Chris

Publication type:

Article

Behavior Problems in Individuals with Cornelia de Lange Syndrome: Population-Specific Validation of the Behavior Problem Inventory-01.

Published in:

Journal of Developmental & Physical Disabilities, 2013, v. 25, n. 5, p. 505, doi. 10.1007/s10882-012-9329-6

By:

Rojahn, Johannes;
Barnard-Brak, Lucy;
Richman, David;
Dotson, Wesley;
Medeiros, Kristen;
Wei, Tianlan;
Abby, Layla

Publication type:

Article

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome.

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00255

By:

Krawczynska, Natalia;
Kuzniacka, Alina;
Wierzba, Jolanta;
Parenti, Ilaria;
Kaiser, Frank J.;
Wasag, Bartosz

Publication type:

Article

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.

Published in:

BMC Medical Genetics, 2012, v. 13, n. 1, p. 43, doi. 10.1186/1471-2350-13-43

By:

Wierzba, Jolanta;
Concepci�n Gil-Rodr�guez, Mar�a;
Polucha, Anna;
Puisac, Beatriz;
Arnedo, Mar�a;
Esperanza Teresa-Rodrigo, Mar�a;
Winnicka, Dorota;
Hegardt, Fausto G.;
Ramos, Feliciano J.;
Limon, Janusz;
Pi�, Juan

Publication type:

Article

Cornelia De Lange Syndrome and Cochlear Implantation.

Published in:

Iranian Journal of Otorhinolaryngology, 2018, v. 30, n. 6, p. 369

By:

Psillas, George;
Triaridis, Stefanos;
Chatzigiannakidou, Vasiliki;
Constantinidis, Jiannis

Publication type:

Article

Attenuated behaviour in Cornelia de Lange and fragile X syndromes.

Published in:

Journal of Intellectual Disability Research, 2018, v. 62, n. 6, p. 486, doi. 10.1111/jir.12481

By:

Bell, L.;
Oliver, C.;
Wittkowski, A.;
Moss, J.;
Hare, D.

Publication type:

Article

Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2017, v. 47, n. 12, p. 3728, doi. 10.1007/s10803-016-3015-y

By:

Crawford, Hayley;
Waite, Jane;
Oliver, Chris

Publication type:

Article