Works matching De Lange's syndrome

Results: 535

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

Prenatal Diagnosis of a 'Minor' Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography.

Published in:

Fetal Diagnosis & Therapy, 2004, v. 19, n. 2, p. 155, doi. 10.1159/000075141

By:

Le Vaillant, Claudine;
Quere, Marie-Pierre;
David, Albert;
Berlivet, Marc;
Boog, Georges

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

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

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

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

Síndrome Cornelia de Lange: reporte de un caso.

Published in:

Revista ANACEM, 2015, v. 8, n. 1, p. 36

By:

Tapia de la F., Álvaro;
Venegas N., Josefa;
Guerra Q., Maricarmen

Publication type:

Article

Síndrome Cornelia de Lange: reporte de un caso.

Published in:

Revista ANACEM, 2014, v. 8, n. 2, p. 61

By:

de la F., Alvaro Tapia;
Venegas N., Josefa;
Guerra Q., Maricarmen

Publication type:

Article

Síndrome Cornelia de Lange: reporte de un caso.

Published in:

Revista ANACEM, 2014, v. 8, n. 2, p. 61

By:

de la F., Alvaro Tapia;
Venegas N., Josefa;
Guerra Q., Maricarmen

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 associated with cecal volvulus: report of a case.

Published in:

Acta Paediatrica, 2001, v. 90, n. 6, p. 701, doi. 10.1111/j.1651-2227.2001.tb02437.x

By:

Masumoto, K;
Izaki, T;
Arima, T

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

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

High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

Published in:

2021

By:

Pablo, M. J.;
Pamplona, P.;
Haddad, M.;
Benavente, I.;
Latorre-Pellicer, A.;
Arnedo, M.;
Trujillano, L.;
Bueno-Lozano, G.;
Kerr, L. M.;
Huisman, S. A.;
Kaiser, F. J.;
Ramos, F.;
Kline, A. D.;
Pie, J.;
Puisac, B.

Publication type:

journal 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

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

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

Leigh's Disease with Clinical Manifestations of Cornelia de Lange Syndrome.

Published in:

Pediatric Neurosurgery, 1991, v. 17, n. 4, p. 192, doi. 10.1159/000120594

By:

Heckmann, H.;
Ang, L.C.;
Casey, R.;
George, D.H.;
Lowry, N.;
Shokeir, M.H.K.

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

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.

Published in:

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

By:

Deschamps, Gabrielle N.

Publication type:

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

Sindrom Cornelia de Lange asociat cu anomalie congenitală de cord. Prezentare de caz.

Published in:

Ginecologia.ro, 2015, v. 3, n. 9, p. 56

By:

Roșca, Ioana;
Ristea, Anca;
Șerban, Marcela;
Tocariu, Raluca;
Tudor, Viorica;
Nanea, Mariana;
Mitran, Mihai

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

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

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

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

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

A case of third trimester diagnosis of Cornelia de Lange syndrome.

Published in:

2011

By:

Kanellopoulos, V.;
Iavazzo, C.;
Tzanatou, C.;
Papadakis, E.;
Tassis, K.

Publication type:

journal article

Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome.

Published in:

Acta Neuropathologica, 1996, v. 92, n. 6, p. 625, doi. 10.1007/s004010050571

By:

Hayashi, M.;
Sakamoto, K.;
Kurata, K.;
Nagata, J.;
Satoh, J.;
Morimatsu, Y.

Publication type:

Article

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

Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.

Published in:

Congenital Anomalies, 2010, v. 50, n. 2, p. 129, doi. 10.1111/j.1741-4520.2010.00270.x

By:

Hosokawa, Shinichi;
Takahashi, Nobumasa;
Kitajima, Hiroyuki;
Nakayama, Masahiro;
Kosaki, Kenjirou;
Okamoto, Nobuhiko

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

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

Infant attentional behaviours as prognostic indicators in Cornelia-de-Lange syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 9, p. 697, doi. 10.1111/j.1365-2788.2007.00975.x

By:

Sarimski, K.

Publication type:

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

Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome.

Published in:

Journal of Intellectual Disability Research, 1997, v. 41, n. 1, p. 70, doi. 10.1111/j.1365-2788.1997.tb00678.x

By:

Sarimski, K.

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

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Castronovo et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 560, doi. 10.1111/j.1399-0004.2010.01408.x

By:

Castronovo, P.;
Delahaye-Duriez, A.;
Gervasini, C.;
Azzollini, J.;
Minier, F.;
Russo, S.;
Masciadri, M.;
Selicorni, A.;
Verloes, A.;
Larizza, Lidia

Publication type:

Article

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype.

Published in:

Fetal Diagnosis & Therapy, 2009, v. 26, n. 1, p. 50, doi. 10.1159/000236361

By:

Wilmink, F. A.;
Papatsonis, D. N. M.;
Grijseels, E. W. M.;
Wessels, M. W.

Publication type:

Article

Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00142-3

By:

Desai, Jay J.;
Nair, Sreelata B.;
Pappachan, S.

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

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

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

Prenatal findings in Brachmann-de Lange syndrome.

Published in:

2000

By:

Sekimoto, H.;
Osada, H.;
Kimura, H.;
Kamiyama, M.;
Arai, K.;
Sekiya, S.

Publication type:

journal 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

Parenting Stress in Families of Children with Cornelia de Lange Syndrome and Down Syndrome.

Published in:

Journal of Developmental & Physical Disabilities, 2009, v. 21, n. 6, p. 537, doi. 10.1007/s10882-009-9156-6

By:

Richman, David M.;
Belmont, John M.;
Kim, Myungjin;
Slavin, Carly B.;
Hayner, Annamarie K.

Publication type:

Article