Works matching Cornelia

Results: 5000

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 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

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

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

Importancia de la adaptación del odontólogo de acuerdo con las necesidades de los pacientes: Síndrome de Cornelia de Lange, a propósito de dos casos clínicos.

Published in:

Universitas Odontológica, 2019, v. 38, n. 81, p. 90, doi. 10.11144/Javeriana.uo38-81.iaon

By:

ARRIAGADA VARGAS, CAROLINA;
SOTO GALAZ, RUBÉN;
Rubio Ortiz, Aída

Publication type:

Article

Cornelia Gurlitt: vokiečių ekspresionistė Vilniuje Pirmojo pasaulinio karo metais.

Published in:

Menotyra, 2022, v. 29, n. 2, p. 83

By:

Šadzevičienė, Ieva

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

Análise comparativa entre medições in situ e estimativas numéricas na Praia da Cornélia, Costa da Caparica, Portugal.

Published in:

Journal of Integrated Coastal Zone Management / Revista de Gestão Costeira Integrada, 2012, v. 12, n. 2, p. 147, doi. 10.5894/rgci303

By:

Rocha, M. V. L.;
Moura, T.;
Fortes, C. J. E. M.;
Capitão, R.;
Bezerra, M. M.;
Sancho, F. E.

Publication type:

Article

Cornelia De Lange Sendromunda Göz Bulguları.

Published in:

Journal of Glaucoma-Cataract / Glokom-Katarakt, 2007, v. 2, n. 2, p. 135

By:

Borazan, Mehmet;
Karalezlı, Aylin;
Akova, Yonca Aydin;
Oto, Sibel;
Akman, Ahmet

Publication type:

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

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

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

L’INNEGABILE INFLUENZA SUI GRACCHI DELLA MADRE CORNELIA.

Published in:

Anuario de la Facultad de Derecho de la Universidad de Alcalá, 2020, v. 13, p. 3

By:

BRAVO BOSCH, MARÍA JOSÉ

Publication type:

Article

Verosimilitud novelesca y falsedad histórica: el prólogo autoral a Cornelia Bororquia.

Published in:

Acta Neophilologica, 2020, v. 53, n. 1/2, p. 217, doi. 10.4312/an.53.1-2.217-230

By:

Fock, Ignac

Publication type:

Article

Kornilia Preveziotou Tavaniotou'nun Kadın Dergisi İ Vosporis (İstanbul 1899-1906).

Published in:

Kebikeç: İnsan Bilimleri İçin Kaynak Araştırmaları Dergisi, 2020, n. 50, p. 177

By:

CHRYSOULA, Anagnostopoulou

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

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 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.

Published in:

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

By:

Deschamps, Gabrielle N.

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

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

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

Cornelia de lange syndrome and psoriasis: Report of a case.

Published in:

2018

By:

Lubkov, Andrea;
Uraga, Veronica;
Briones, Maria-Cecilia;
Uraga, Enrique

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

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

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

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

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

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

Disowning “Indianness”: Images of Indian Womanhood and the “English” Self of Cornelia Sorabji.

Published in:

Prose Studies, 2015, v. 37, n. 1, p. 2, doi. 10.1080/01440357.2015.1056486

By:

Chattopadhyay, Sayan

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

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

My Grandparents Louis Burton Gibson, and Cornelia Adelaide Pettiford.

Published in:

Journal of the Afro-American Historical & Genealogical Society, 2024, n. 41, p. 8

By:

Gibson Miller-Coverdale, Cornelia

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

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

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

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

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

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214

By:

Smits, Paulien;
Saada, Ann;
Wortmann, Saskia B.;
Heister, Angelien J.;
Brink, Maaike;
Pfundt, Rolph;
Miller, Chaya;
Haas, Dorothea;
Hantschmann, Ralph;
Rodenburg, Richard J. T.;
Smeitink, Jan A. M.;
van den Heuvel, Lambert P.

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

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

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

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