ECLAMC: the Latin-American collaborative study of congenital malformations

EE Castilla, IM Orioli - Public Health Genomics, 2004 - karger.com
… Gestational length, fetal presentation, birth weight, and perinatal survival data are collected
to improve phenotype definition of specific defects. Information is directly collected from the …

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

IM Orioli, E Amar, J Arteaga‐Vazquez… - American Journal of …, 2011 - Wiley Online Library
Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced
by a single midline limb. This study describes the prevalence, associated malformations, …

Epidemiology of holoprosencephaly: Prevalence and risk factors

IM Orioli, EE Castilla - … Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
Orioli and Castilla 2007 determined whether craniofacial and non-craniofacial defects in
HPE cases were in excess when compared to the expected numbers. They confirmed the …

[HTML][HTML] Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate

…, KI Yoshiura, AR Vieira, IM Orioli… - … England Journal of …, 2004 - Mass Medical Soc
Background Cleft lip or palate (or the two in combination) is a common birth defect that results
from a mixture of genetic and environmental factors. We searched for a specific genetic …

The birth prevalence rates for the skeletal dysplasias.

IM Orioli, EE Castilla, JG Barbosa-Neto - Journal of medical genetics, 1986 - jmg.bmj.com
This study was undertaken to establish the prevalence rates at birth of the skeletal
dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American …

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

…, PA Romitti, K Christensen, IM Orioli… - Journal of medical …, 2003 - jmg.bmj.com
MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic
forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage …

[HTML][HTML] Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

…, M Johnson, J Fang, SE O'Brien, IM Orioli… - PLoS …, 2005 - journals.plos.org
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic
distribution with an average birth prevalence of 1/700. We used direct sequencing as an …

Gastroschisis: international epidemiology and public health perspectives

…, P Mastroiacovo, IM Orioli - American Journal of …, 2008 - Wiley Online Library
… How to cite this article: Castilla EE, Mastroiacovo P, Orioli IM. 2008. Gastroschisis: … in the
program's Procedures Manual [Castilla and Orioli, 2004] and summarized in six characteristics …

Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile

JS López‐Camelo, IM Orioli, MG Dutra… - American Journal of …, 2005 - Wiley Online Library
To verify whether the decreasing neural tube defects birth prevalence rates in Chile are due
to folic acid fortification or to pre‐existing decreasing trends, we performed a population …

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24. 2, 17q23 and 19q13

…, JC Mereb, FA Poletta, IM Orioli… - Human molecular …, 2016 - academic.oup.com
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P),
are among the most common birth defects in humans, affecting approximately 1 in 700 …