Results 11 to 20 of about 91,778 (159)
EL SÍNDROME DE ASPERGER Y SU CLASIFICACIÓN [PDF]
Revista Educación, 2009 El artículo trata sobre el Síndrome de Asperger, que es un trastorno generalizado del desarrollo. Su causa primaria parece ser genética y recientemente fue reconocido como tal por la comunidad científica.
Marco Antonio Zúñiga Montero
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Ultrasound in Obstetrics &Gynecology, Volume 62, Issue 6, Page 778-787, December 2023., 2023 ABSTRACT Objectives Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of
P. I. Cavoretto +7 more
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American Journal of Medical Genetics Part A, Volume 188, Issue 7, Page 2129-2134, July 2022., 2022 Abstract The Rubinstein–Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element‐binding protein (CREB)‐binding protein (CREBBP) or in the E1A‐associated ...
Francesco Saettini +15 more
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The FASEB Journal, Volume 36, Issue 4, April 2022., 2022 Abstract Chondrocytes in osteoarthritic (OA) cartilage acquire a hypertrophic‐like phenotype, where Hedgehog (Hh) signaling is pivotal. Hh overexpression causes OA‐like cartilage lesions, whereas its downregulation prevents articular destruction in mouse models. Mutations in EVC and EVC2 genes disrupt Hh signaling, and are responsible for the Ellis‐van
Ana Lamuedra +8 more
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Precision therapy in the genetic epilepsies of childhood
Developmental Medicine &Child Neurology, Volume 63, Issue 11, Page 1276-1282, November 2021., 2021 Despite recent advances in both the understanding and treatment of the epilepsies, the rate of refractory epilepsy has remained static for many years. However, given our greater understanding of the aetiology and genetic basis of many paediatric and adult epilepsies, there is now scope to expand treatment.
Susan Byrne +2 more
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Diagnostic approach to paediatric movement disorders: a clinical practice guide
Developmental Medicine &Child Neurology, Volume 63, Issue 3, Page 252-258, March 2021., 2021 Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships.
Rick Brandsma +11 more
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Síndrome de Brown bilateral em mãe e filho: relato de caso [PDF]
, 2008 This case report describes clinical data from mother and son with bilateral Brown's syndrome and highlights possible genetically determined predispositions.Este relato de caso descreve achados clínicos de mãe e filho com síndrome de Brown bilateral e ...
ANTUNES-FOSCHINI, Rosália Maria Simões +1 more
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Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes [PDF]
, 2002 Objective: to discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and ...
Toralles, Maria Betânia Pereira +1 more
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Diagnostic protocol for genetic cardiomyopathies [PDF]
, 2017 Protocolos de práctica asistencial[Resumen] Características generales. Las miocardiopatías genéticas engloban un grupo heterogéneo de enfermedades. Algunas afectan de forma aislada al músculo cardíaco, en otros casos forman parte del espectro de una ...
Barge-Caballero, Gonzalo +2 more
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, 2022 Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
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