Rubinstein Taybi Syndrome
Mostrando 1-12 de 22 artigos, teses e dissertações.
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1. Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
An. Bras. Dermatol.. Publicado em: 2020-10
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2. Translational Medicine – New Frontiers in Cardiology
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
Int. J. Cardiovasc. Sci.. Publicado em: 2020-10
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3. Splenic hamartoma associated with visceral leishmaniasis mimicking aggressive lymphoma
Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-
Hematol., Transfus. Cell Ther.. Publicado em: 2020-10
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4. Investigação molecular por sequenciamento do gene CBP em portadores da síndrome de Rubinstein-Taybi / Molecular investigation by sequencing of the CBP gene in patients with Rubinstein-Taybi syndrome
A Síndrome de Rubinstein-Taybi (RTSs) é uma doença rara de herança autossômica dominante, caracterizada por dismorfismos craniofaciais, polegares e háluces alargados, deficiência intelectual e de crescimento. RTSs tem sido associada com mutações no gene CREBBP (CBP) e mutações menos frequentes no gene EP300 que foram descritas em oito indivíduos.
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 16/03/2012
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5. Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency, and recurrent respiratory infections. RTS has been associated with CREBBP gene mutations, but EP300 gene mutations have recently been reported in 6 individuals. In the present study, the humoral imm
Brazilian Journal of Medical and Biological Research. Publicado em: 2010-12
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6. Rubinstein-Taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis
Clinics. Publicado em: 2010
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7. Investigação genético-clínica em pacientes com síndrome de Rubinstein-Taybi / Clinical-genetical investigation of Rubinstein-Taybi syndrome patients
INTRODUÇÃO: A Síndrome de Rubinstein-Taybi (RTS) é uma doença genética rara, caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, deficiência mental e baixa estatura. A incidência estimada é de 1: 125 000 a 1: 330000 nativivos. A SRT geralmente ocorre esporadicamente, mas pode ser herdada com um padrão de herança
Publicado em: 2009
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8. "Estudo das manifestações crânio faciais de pacientes portadores da síndrome de Rubinstein-Taybi" / Study of the cranio facial manifestations of patients with Rubinstein-Taybi syndrome.
The Rubinstein-Taybi syndrome was first report in 1963 by Jack Rubinstein and Hooshang Taybi and its related with the chromossomal microdelection in the region 16p13. The main characteristics are mental retardation, low stature, pointed nose, broad thumbs and toes and cardiac alterations. The buccal characteristics are reported in the literature by sporadi
Publicado em: 2005
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9. Trisomy 13 and Rubinstein-Taybi syndrome.
Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confir
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10. Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.
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11. Keratoglobus in the Rubinstein-Taybi syndrome.
The case of a 20-year-old male with the Rubinstein-Taybi syndrome associated with unilateral acute corneal hydrops is presented. The initial findings were of keratoglobus, but after the corneal oedema had settled the cornea assumed a more conical contour. The relationship between keratoglobus, keratoconus, and acute hydrops is discussed.
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12. Monozygotic twins discordant for rubinstein-taybi syndrome.
A pair of male monozygotic twins discordant for Rubinstein-Taybi syndrome is reported. Monozygosity of the twins was established using blood grouping, typing of serum proteins, isozymes, HLA, and chromosomal heteromorphisms. The twins are the first twin pair discordant for the syndrome in which monozygosity has been firmly established. The pathogenesis of th