Results 21 to 30 of about 60,147,798 (196)

Cornelia de Lange syndrome

The Turkish Journal of Pediatrics, 1969
B Say, S Balci, M Atasu
doaj   +2 more sources

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism [PDF]

, 2014
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features.
Aldridge, Roland, Green, Andrew J, Lampe, A., McKee, Shane A., Kingston, Helen, Kayserili, H., Bitner-Glindzicz, M, Chan, Cheng Yee, Kayserili, Hülya, Cooper, Nicola S, Mansour, S, Chandler, K, Ross, Alison, Bitner-Glindzicz, Maria, Ansari, M., Aldridge, R., Bennett, CP, Donnelly, D. E., Davidson, R, Chan, C. Y., Girisha, KM, Poke, G., Cook, J., Lampe, Anne K., Pilz, Daniela T, Chan, C., Poke, Gemma, Park, Soo-Mi, Ferry, Q., Lam, Wayne K, Cook, JA, Splitt, M., Johnson, Diana S., Wee, Jamie S., Deshpande, C, Falkenberg Smeland, Marie, Chan, CY, Avci, Şahin, Hurst, Jane A, Lam, W. K., Deshpande, C., Meynert, A., Bennett, C. P., Green, A. J., Donnai, D., Bengani, Hemant, Pilz, D. T., McEntagart, M, Thompson, Elizabeth M., Mansour, Sahar, Deshpande, Charu, McConnell, Vivienne, Davidson, Rosemarie, FitzPatrick, D. R., McEntagart, Meriel, Cooper, Nicola S., Thompson, E. M., Josifova, D., Holder, S. E., Green, Andrew J., Taylor, M. S., Homfray, Tessa, Kingston, H, FitzPatrick, DR, Tatton-Brown, Katrina, Hurst, J. A., Taylor, MS, Barnicoat, Angela, Magee, A. C., Parker, M. J., Wilson, L, Clayton-Smith, Jill, Flinter, F., Tolmie, J., Wee, J. S., Donnelly, Deirdre E., Lampe, Anne K, Fisher, Richard B, Green, AJ, Redeker, Egbert, Mehta, Sarju G, Hennekam, R. C. M., Prescott, K., Sisodiya, S., Mohammed, S., Wilson, Louise, Cox, H., Johnson, D. S., Mercer, C, Mohammed, S, Tatton-Brown, K, Redeker, E, Tolmie, John, Parker, Michael J., Meynert, Alison M, McEntagart, M., Vogt, Julie, Vogt, J, Chandler, K., Williamson, K., Fisher, R. B., Parker, M., et al., Magee, Alex C., Cox, H, Taylor, Martin S., Fryer, A, McKee, S. A., Ansari, M, Fryer, Alan, Firth, Helen V, Donnai, Dian, Firth, H. V., Hurst, JA, Lynch, Sally-Ann, Brady, A. F., Behnam, Mahdiyeh, Cooper, N. S., Parker, MJ, Pilz, Daniela T., Harrison, V, Parker, Michael J, Wakeling, Emma, Behnam, M, Cooper, NS, Lampe, AK, Johnson, Diana S, Clayton-Smith, J., McKee, SA, McConnell, V, Homfray, T, Tolmie, J, McConnell, V., Lam, Wayne K., Barnicoat, A., Davidson, R., Firth, HV, Bennett, Christopher P, Ross, A, Donnelly, Deirdre E, Pilz, DT, Cilliers, D., Hennekam, Raoul C M, Taylor, Martin S; id_orcid, Falkenberg Smeland, M, Harrison, V., Holder, Susan E., Mercer, C., Brady, Angela F., Thompson, EM, Josifova, D, Stewart, Fiona, Harrison, Victoria, Lynch, SA, Smeland, Marie Falkenberg, Mehta, Sarju G., Wilkie, A, Wakeling, E., Firth, Helen V., Cilliers, Deirdre, Flinter, F, Girisha, Katta M., Splitt, Miranda, Meynert, A. M., Mehta, SG, Lam, WK, Homfray, T., Kayserili, H, Wee, Jamie S, Mohammed, Shehla, Cox, Helen, Bengani, H, Brady, Angela F, Donnelly, DE, Hennekam, RC, Barnicoat, A, Sisodiya, Sanjay, Ferry, Q, Kinning, Esther, Kinning, E., Fisher, Richard B., Wee, JS, Meynert, Alison M., Magee, Alex C, Brady, AF, Nellaker, C., Bitner-Glindzicz, M., Mansour, S., Holder, SE, Prescott, Katrina, Cook, Jacqueline A, Williamson, Kathleen, Ruddy, D, Avci, S, Johnson, DS, Falkenberg Smeland, M., Stewart, F, Clayton-Smith, J, Lampe, A. K., Nellåker, C, Fryer, A., Smeland, M., Redeker, E., Girisha, K. M., Hurst, Jane A., Chandler, Kate, Avci, ahin, Nellåker, Christoffer, Lynch, S.-A., Ansari, Morad, FitzPatrick, David R, Wilson, L., Hennekam, Raoul C. M., Poke, G, Cilliers, D, Rosser, E., Ruddy, Deborah, Park, S.-M., Donnai, D, Wilkie, Andrew, Holden, Simon, Meynert, AM, Tatton-Brown, K., McKee, Shane A, Hennekam, R., Vogt, J., Magee, AC, Holder, Susan E, Ruddy, D., Aldridge, R, Williamson, K, Flinter, Frances, Mehta, S. G., Fisher, RB, Kinning, E, Park, SM, Prescott, K, Splitt, M, Josifova, Dragana, Girisha, Katta M, Holden, S., Rosser, E, Wakeling, E, Wilkie, A., Mercer, Catherine, Bengani, H., Ross, A., Kingston, H., Avci, Ş., Thompson, Elizabeth M, Rosser, Elisabeth, Cook, Jacqueline A., Ferry, Quentin, Sisodiya, S, Stewart, F., Behnam, M., Holden, S, Cook, J. A., Bennett, Christopher P., FitzPatrick, David R.   +259 more
core   +1 more source

Mania in Cornelia de Lange Syndrome: Diagnostic Challenges and the Role of Multidisciplinary Care – A Case Report [PDF]

Eurasian Journal of Family Medicine
Cornelia de Lange syndrome is a rare cohesinopathy characterized by multisystem involvement, intellectual disability, and a distinct behavioural phenotype. Psychiatric comorbidities remain underrecognised.
Alvin J Joseph, John Abraham
doaj   +1 more source

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Orphanet Journal of Rare Diseases, 2017
Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa   +5 more
doaj   +1 more source

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Вопросы современной педиатрии, 2022
Background. Cornelia de Lange syndrome is rare genetic disease manifested by short stature, limb abnormalities, craniofacial dysmorphies, and developmental delay.
Nodira M. Normuradova, Odil A. Khujakulov, Mahliyo Sh. Ergasheva, Eshdavlat R. Ollanazarov, Bekhruz B. Majidov   +4 more
doaj   +1 more source

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

Journal of Pediatric Neurosciences, 2018
Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we ...
Indar K Sharawat, Lesa Dawman
doaj   +1 more source

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Orphanet Journal of Rare Diseases, 2021
Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene ...
M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie, B. Puisac   +14 more
doaj   +1 more source

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics, 2021
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth ...
Anca Maria Panaitescu, Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, Alina Veduta   +6 more
doaj   +1 more source

Classical Cornelia de Lange syndrome in a neonate [PDF]

, 2021
Cornelia de Lange syndrome is a rare developmental disorder syndrome involving multiple systems characterized by facial dysmorphism limb deformities, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities.
George, Madhu, Zacharias, Ann Mary, Tawab, Abdul, Madhu George, Ann Mary Zacharias, Abdul Tawab   +5 more
core   +1 more source

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

Nature Communications, 2021
Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established.
Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt   +15 more
doaj   +1 more source