Now showing items 1-10 of 10
Identifying Autism with a Brief and Low-Cost Screening Instrument-OERA: Construct Validity, Invariance Testing, and Agreement Between Judges
(Springer/Plenum Publishers, 2018)
Simple and low-cost observational-tools to detect symptoms of Autism Spectrum Disorder (ASD) are still necessary. The OERA is a new assessment tool to screen children eliciting observable behaviors with no substantial ...
Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA
Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually ...
Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: A familial case report and review of the literature.
(Expansion Sci Francaise, 1998-01-01)
A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients, It is present in a balanced state in the mothers and with the derivative chromosome ...
A utilização da Internet na notificação dos defeitos congênitos na Declaração de Nascido Vivo em quatro maternidades públicas do Município de São Paulo, Brasil
(Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz, 2010-07-01)
The aim of this study was to improve the completion of item 34 on birth certificates at four maternity hospitals in the city of São Paulo, Brazil, in the year 2008. The database of the Municipal Health Department's Information ...
Genetic hearing loss: a study of 228 Brazilian patients
(Sociedade Brasileira de Genética, 2000-03-01)
We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 ...
Multiple rhabdomyomas in monozygotic twins
(Greenwich Medical Media Ltd, 1999-03-01)
Rhabdomyoma is the most frequent primary cardiac tumor seen during infancy. We report multiple rhabdomyomas diagnosed in twins in the neo natal period. To the best of our knowledge, this is the first instance of this happening.
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis
(Lippincott Williams & Wilkins, 2008-04-01)
We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed ...
Genética do autismo
(Associação Brasileira de Psiquiatria - ABP, 2004-12-01)
Autism is a neuropsychiatric disorder with profound family and social consequences. An extraordinary number of genetical-clinical, cytogenetics and molecular studies were done in recent years. A multiloci epistatic model ...
Anomalias oculares em pacientes portadores de deficiência auditiva genética
(Conselho Brasileiro de Oftalmologia, 2000-12-01)
Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients. Methods: 97 patients with definite or suspected ...
Genotype-phenotype correlation in Brazillian Rett syndrome patients
(Academia Brasileira de Neurologia - ABNEURO, 2009-09-01)
BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between ...