Cornelia De Lange Syndrome
Mostrando 1-12 de 13 artigos, teses e dissertações.
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1. Intensive Neuromotor Therapy improves motor skills of children with Cornelia de Lange Syndrome: case report
Resumo Introdução: A síndrome de Cornelia de Lange (SCL) é uma síndrome genética rara. Crianças com SCL geralmente necessitam de fisioterapia, porém a eficácia da intervenção fisioterapêutica nessa população é escassa na literatura científica. Objetivo: O objetivo deste estudo foi relatar o efeito da Terapia Neuromotora Intensiva (TNMI) sob
Fisioter. mov.. Publicado em: 18/11/2019
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2. Comunicação aumentativa e alternativa para sujeitos com transtornos globais do desenvolvimento na promoção da expressão e intencionalidade por meio de ações mediadoras
A linguagem e a comunicação são processos fundamentais para o desenvolvimento humano. Mas longe de serem processos inatos ou maturacionais são processos sócio-históricos que se desenvolvem ao longo da vida. Dessa forma, quando as crianças chegam à idade escolar trazem com elas uma linguagem e comunicação oral não como produtos acabados, mas como p
Publicado em: 2010
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3. (1) Facts about Cornelia de Lange syndrome. (2) Facing the Challenges. A Parents' Guide to Cornelia de Lange Syndrome. (3) Cornelia de Lange Syndrome Foundation Album 1989-90
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4. Discordance for Cornelia de Lange syndrome in twins.
A male infant, the first-born of twins, with features of Cornealia de Lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. Chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de Lange syndrome remains obscure, most authorities accept genetic rather than environmental
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5. Cornelia de Lange syndrome in several members of the same family.
A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not fou
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6. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.
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7. Partial trisomy 3q causing mild Cornelia de Lange phenotype.
A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytog
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8. Cornelia de Lange syndrome.
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9. Cornelia de Lange syndrome with ring chromosome 3.
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10. Cornelia de Lange syndrome with ring chromosome 3.
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11. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
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12. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development
Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome. We have identified a human paired-related homeobox gene, SHOT, by virtue of its homology to the human SHOX and mouse OG-12 genes. Two different isoforms were isolated,
The National Academy of Sciences.