Beckwith Wiedemann Syndrome
Mostrando 1-12 de 40 artigos, teses e dissertações.
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1. Diagnóstico pré-natal da síndrome de Beckwith-Wiedemann pela ultrassonografia bidimensional e tridimensional
Beckwith-Wiedemann syndrome is a genetic syndrome characterized by macroglossia, omphalocele, fetal gigantism and neonatal hypoglycemia. The authors report a case of Beckwith-Wiedemann syndrome diagnosed in a 32-year-old primigravida in whom two-dimensional ultrasonography revealed the presence of abdominal wall cyst, macroglossia and polycystic kidneys. Thr
Radiol Bras. Publicado em: 2013-12
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2. Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and
Genet. Mol. Biol.. Publicado em: 2012
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3. Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram
BACKGROUND: Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors. In such subjects, kidney size is typically larger than that of age-matched normal controls. OBJECTIVE: The purpose of our
Clinics. Publicado em: 2009-01
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4. In silico characterization and epigenetic analysis of in vivo and cloned cattle of the homologue region 11p15.5 involved with Beckwith-Wiedemann syndrome in humans / Caracterização in silico e análise epigenética em bovinos produzidos in vivo e por transferência nuclear da região homóloga à 11p15.5 envolvida com a síndrome de Beckwith-Wiedemann em humanos
Epigenetics is the branch of biology which studies heritable changes in genome function that occur without a change in nucleotide sequence within the DNA. One of the most studied epigenetic process is the DNA methylation, which is associated with several gene regulation mechanisms such as genomic imprinting. This type of regulation is characterized by parent
Publicado em: 2007
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5. H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. The cause of isolated hemihyperplasia (IHH) is unknown but might be due to partial or incomplete expression of BWS because both these conditions share predisposition for the same types of neoplasias. We inve
Genetics and Molecular Biology. Publicado em: 2005
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6. Beckwith-Wiedemann syndrome and isolated hemihyperplasia
CONTEXTO: A síndrome de Beckwith-Wiedemann é uma doença de hipercrescimento complexa e heterogênea com alterações genéticas e epigenéticas, envolvendo imprinting genômico e predisposição ao câncer. A causa da hemi-hiperplasia isolada ainda é desconhecida e pode representar uma expressão parcial ou incompleta da síndrome de Beckwith-Wiedemann.
Sao Paulo Medical Journal. Publicado em: 2003
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7. Adrenocortical tumors in children
Childhood adrenocortical tumors (ACT) are rare. In the USA, only about 25 new cases occur each year. In Southern Brazil, however, approximately 10 times that many cases are diagnosed each year. Most cases occur in the contiguous states of São Paulo and Paraná. The cause of this higher rate has not been identified. Familial genetic predisposition to cancer
Brazilian Journal of Medical and Biological Research. Publicado em: 2000-10
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8. Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome.
In an attempt to elucidate the role of methylation in parental imprinting at the IGF-II gene locus, for which imprinting has already been described in the mouse, we undertook an allele specific methylation study of the human IGF-II gene (mapped to 11p15.5) in a control population and in patients with Beckwith-Wiedemann syndrome. In control leucocyte DNA (16
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9. Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.
A pair of monozygous twins discordant for Wiedemann-Beckwith syndrome is described and published reports reviewed to establish the mode of inheritance. Single gene control seems unlikely and it is proposed that the condition arises from the interaction of "at risk" genes in the fetus and metabolic factors in the mother, which suggests multifactorial control.
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10. Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 delet
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11. Beckwith-Wiedemann syndrome.
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12. Beckwith-Wiedemann syndrome.