Paula Braz
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Explore the profile of Paula Braz including associated specialties, affiliations and a list of published articles.
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21
Citations
328
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Recent Articles
11.
Coi A, Santoro M, Garne E, Pierini A, Addor M, Alessandri J, et al.
Am J Med Genet A
. 2019 Jul;
179(9):1791-1798.
PMID: 31294928
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital...
12.
Morris J, Wellesley D, Barisic I, Addor M, Bergman J, Braz P, et al.
Arch Dis Child
. 2019 Jun;
104(12):1181-1187.
PMID: 31243007
Objectives: To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe. Design And Setting: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04)...
13.
Santos J, Antunes L, Namorado S, Kislaya I, Santos A, Rodrigues A, et al.
Acta Odontol Scand
. 2019 Feb;
77(5):334-339.
PMID: 30712422
Objective: This study aims to describe preventive oral hygiene behaviours in the Portuguese population and assess their association with sociodemographic and socioeconomic factors. Material And Methods: A cross-sectional epidemiologic study...
14.
Braz P, Machado A, Matias Dias C
Eur J Med Genet
. 2018 Jun;
61(9):508-512.
PMID: 29908353
The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early...
15.
Garne E, Rissmann A, Addor M, Barisic I, Bergman J, Braz P, et al.
Eur J Med Genet
. 2018 May;
61(9):483-488.
PMID: 29753093
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and...
16.
Correia S, Machado A, Braz P, Rodrigues A, Matias-Dias C
Birth Defects Res A Clin Mol Teratol
. 2016 Jun;
106(6):489-93.
PMID: 27301562
Background: In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies...
17.
Bergman J, Loane M, Vrijheid M, Pierini A, Nijman R, Addor M, et al.
World J Urol
. 2015 Feb;
33(12):2159-67.
PMID: 25712311
Background: Hypospadias is a common congenital malformation. The prevalence of hypospadias has a large geographical variation, and recent studies have reported both increasing and decreasing temporal trends. It is unclear...
18.
McGivern M, Best K, Rankin J, Wellesley D, Greenlees R, Addor M, et al.
Arch Dis Child Fetal Neonatal Ed
. 2014 Nov;
100(2):F137-44.
PMID: 25411443
Introduction: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance...
19.
Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, et al.
Orphanet J Rare Dis
. 2014 Oct;
9:156.
PMID: 25344219
Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from...
20.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, et al.
Eur J Hum Genet
. 2014 Sep;
23(6):746-52.
PMID: 25182137
Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to...