ECLAMC: the Latin-American collaborative study of congenital malformations

EE Castilla, IM Orioli - Public Health Genomics, 2004 - karger.com
Abstract Definition: ECLAMC ('Estudio Colaborativo Latino Americano de Malformaciones
Congénitas') is a program for the clinical and epidemiological investigation of risk factors in …

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 …

Epidemiology of holoprosencephaly: Prevalence and risk factors

IM Orioli, EE Castilla - … Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
The wide variation in cerebral and facial phenotypes and the recognized etiologic
heterogeneity of holoprosencephaly (HPE) contribute to the observed inter‐study …

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

TM Zucchero, ME Cooper, BS Maher… - … 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 …

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

AR Vieira, JR Avila, S Daack-Hirsch, E Dragan… - 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 …

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

EJ Leslie, JC Carlson, JR Shaffer… - 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 …

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 …

Gastroschisis: international epidemiology and public health perspectives

EE Castilla, P Mastroiacovo… - American Journal of …, 2008 - Wiley Online Library
Gastroschisis offers the intriguing epidemiological situation of a pandemic, strongly
associated with very low maternal age. Identifying gastroschisis, and distinguishing it from …

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or …

EJ Leslie, JC Carlson, JR Shaffer, A Butali, CJ Buxó… - Human genetics, 2017 - Springer
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial
birth defects with complex etiologies that include genetic and environmental risk factors …

[PDF][PDF] A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3

EJ Leslie, H Liu, JC Carlson, JR Shaffer… - The American Journal of …, 2016 - cell.com
Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately
half of infants with CP have a syndromic form, exhibiting other physical and cognitive …