Results 51 to 60 of about 2,252,623 (207)

Autism in Moebius Syndrome: Comorbidity or a Coincidental State? [PDF]

Psikiyatride Güncel Yaklaşımlar, 2010
Pervasive developmental disorders are neuropsychiatric disorders that start in early years of life, last lifelong, and characterized by delay and abnormality in social relationship, communication, behavior and cognitive development. Moebius syndrome is a
İbrahim Durukan, Tumer Turkbay
doaj  

Exposição à teratógenos e anormalidades oculares congênitas em pacientes brasileiros portadores da sequência de Möbius [PDF]

, 2014
Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocular congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society.
Brandt, Carlos Teixeira, Cronemberger, Monica Fontenele, Dias, Carlos Sousa, Dias, Maria Joaquina Marques, Goldchmit, Mauro, Gonzalez, Claudete H., Kuczynski, Evelyn, Miller, Marilyn T., Nakanami, Célia Regina, Polati, Mariza, Ventura, Camila Vieira Oliveira Carvalho, Ventura, Liana Maria Vieira de Oliveira   +11 more
core   +2 more sources

Fixed laws, fluid lives: the citizenship status of post-retirement migrants in the European Union [PDF]

, 2004
This paper presents key findings of a recently completed socio-legal study of international retirement migration in the European Union (EU).1 It highlights the diverse nature of retirement migration and the differential citizenship status that is ...
Ackers, L, Dwyer, PJ
core   +1 more source

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

International Journal of Environmental Research and Public Health
Congenital facial weakness (CFW) encompasses a heterogenous set of rare disorders presenting with decreased facial movement from birth, secondary to impaired function of the facial musculature.
D. Liberton, K. Almpani, Rashmi Mishra, Carol Bassim, C. Ryzin, Moebius Syndrome, Research Consortium, B. Webb, Ethylin Wang, Elizabeth C Engle, Francis S. Collins, I. Manoli, Janice S Lee   +12 more
semanticscholar   +1 more source

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

BMC Pediatrics, 2022
Background Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with ...
Graeme E. Glass, Shiyas Mohammedali, Bran Sivakumar, Mitchell A. Stotland, Faisal Abdulkader, Debra O. Prosser, Donald R. Love   +6 more
doaj   +1 more source

A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]

, 2015
Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera, Bacolla, Bacolla, Bacolla, Bacolla, Bacolla, Ball, Belotserkovskii, Bharti, Biffi, Bochman, Boyer, Brooks, Bzymek, Cebrián, Chen, Chen, Chuzhanova, Clark, Cooper, Cooper, Cooper, De, Ding, Dong, Du, Fleming, Greenblatt, Guo, Gusev, Iyer, Jain, Jain, Javadekar, Jeitany, Kaushik Tiwari, Kondrashov, Kouzine, Kregten, Kunkel, Kunkel, Kunkel, Lam, Lee, Levinson, León-Ortiz, Lopes, Lovett, Lu, Majumdar, Margolin, Morikawa, Mort, Mukherjee, Mukherjee, Murat, Nambiar, Patel, Raghavan, Reeves, Rosche, Rouleau, Sanders, Schofield, Sen, Sharma, Sinden, Sinden, Spurlock, Stenson, Stenson, Tappino, Vasquez, Verdin, Wang, Wells, Wickramasinghe, Williams, Wu, Wu, Wu, Wu, Yang, You, Zhao, Zhao, Zhou   +86 more
core   +1 more source

Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome

Journal of Translational Genetics and Genomics, 2023
Moebius Syndrome (MBS) is a rare neurodevelopmental disorder characterised by facial paralysis and ocular motility defects. Its origins trace back to the 19th century, with its clinical delineation attributed to German neurologist Paul Möbius.
Ekaterina Lyulcheva-Bennett, Wendy Blumenow, Adelene O’Connor, Maria Kelly, Daimark Bennett, Adel Y. Fattah   +5 more
semanticscholar   +1 more source

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome [PDF]

, 2017
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and
Andrews, CV, Artoni, P, Barry, BJ, Biesecker, BB, Bonnycastle, LL, Brewer, CC, Brooks, BP, Butman, JA, Bönnemann, CG, Cannavino, J, Carey, JC, Chan, WM, Cheng, L, Chien, WW, Chines, PS, Collins, FS, Connors, S, De Macena Sobreira, NL, Di Gioia, SA, Engle, EC, Erazo, M, Fagiolini, M, Farrell, K, Ferreira, CR, FitzGibbon, EJ, Frempong, T, Gilette, NM, Gropman, AL, Grunseich, C, Hao, K, Hartman, T, Hayes, IM, Hunter, DG, Hutchinson, EB, Jabs, EW, Leppert, M, Mackinnon, SE, Manoli, I, Markie, DM, Matsunami, N, Mohassel, P, Morgan, T, Naidich, TP, Olson, EN, Ramirez-Martinez, A, Robertson, SP, Robson, CD, Rose, MF, Rucker, JC, Scholand, MB, Shaaban, S, Speck-Martins, CE, Swift, A, Van Ryzin, C, Webb, BD, Zhang, Z   +55 more
core   +1 more source

Moebius Syndrome Associated with Pectoral Muscle Hypoplasia: Case Report

Türk Nöroloji Dergisi, 2010
Moebius syndrome, a rare congenital disorder of varying severity, involves multiple cranial nerves and is characterized predominantly with bilateral or unilateral paralysis of the facial and abducens nerves.
Serkan Kılbaş, Özgür Arslan, Batur Bahçe, Osman Erdokur, Mustafa Civelekler, Bülent Ertem   +5 more
doaj   +2 more sources