Search Results - "PINTO, Carla Franchi"
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SCAF4‐related syndromic intellectual disability
Published in American journal of medical genetics. Part A (01-02-2023)“…The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then,…”
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Down syndrome in adults: success and challenge
Published in Geriatrics, Gerontology and Aging (Online) (01-06-2020)“…The estimated average survival of people with Down syndrome (DS) is currently over 50 years of age. This demographic finding warrants attention of health…”
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Perceptions of Siblings of People with Trisomy 21 on Family Relationships
Published in Revista brasileira de educação especial (2023)“…The birth of a child with a disability brings implications, changes in the environment and family dynamics. The family goes through a process of overcoming…”
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Sexuality and persons with Down syndrome. A study from Brazil
Published in International journal of adolescent medicine and health (01-07-2009)“…In recent years, important gains and changes have been observed in the life of teenagers with Down syndrome (DS) with increased inclusion into society. This…”
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Perinatal mortality among twins and singletons in a city in southeastern Brazil, 1984-1996
Published in Genetics and molecular biology (01-03-2000)“…Analysis of 116,699 deliveries (1062 twin pairs and 115,637 singletons) which occurred from 1984 to 1996 at the largest obstetric center in Campinas, SP,…”
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Genetic effect on apgar score
Published in Genetics and molecular biology (01-03-1999)“…Intraclass correlation coefficients for one- and five-min Apgar scores of 604 twin pairs born at a southeastern Brazilian hospital were calculated, after…”
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Birth weight of twins: 1. The fetal growth patterns of twins and singletons
Published in Genetics and molecular biology (01-03-1998)“…Distributions of birth weights of twins and singletons born at three southeastern Brazilian hospitals were compared after adjustment for gestational age, its…”
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Birth weight of twins: 2. Fetal genetic effect on birth weight
Published in Genetics and molecular biology (01-03-1998)“…Intraclass correlation coefficients were calculated for the birth weights of twins born at three southeastern Brazilian hospitals, after adjustment of the…”
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SCAF4-related syndromic intellectual disability
Published in American journal of medical genetics. Part A (01-02-2023)Get full text
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Holoprosencephaly—Report of two cases
Published in International journal of pediatric otorhinolaryngology (01-11-2005)“…Holoprosencephaly (HPE) is a developmental defect resulting from incomplete cleavage of the embryonic forebrain structures during early embryogenesis. It…”
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Biological and social traits associated with twinning among Caucasoids and Negroids
Published in Brazilian journal of genetics (01-06-1997)Get full text
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