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Reproductive Toxicology, ISSN 0890-6238, 09/2019, Volume 88, pp. 142 - 143
Journal Article
Reproductive Toxicology, ISSN 0890-6238, 04/2016, Volume 60, pp. 172 - 172
Journal Article
Reproductive Toxicology, ISSN 0890-6238, 11/2015, Volume 57, pp. 223 - 223
Journal Article
Journal Article
Reproductive Toxicology, ISSN 0890-6238, 09/2012, Volume 34, Issue 2, pp. 170 - 171
Journal Article
Genetics and Molecular Biology, ISSN 1678-4685, 03/2015, Volume 38, Issue 1, pp. 14 - 20
Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Jornal de Pediatria, ISSN 0021-7557, 09/2019, Volume 95, Issue 5, pp. 600 - 606
The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was... 
ZIKV | Infecção congênita | Microcephaly | Congenital infection | Microcefalia | SURVEILLANCE | PEDIATRICS | INFECTION
Journal Article
Jornal de Pediatria, ISSN 0021-7557, 07/2008, Volume 84, Issue 4, pp. S76 - S79
Objective: Although the classic features of fetal alcohol syndrome have been recognized since 1968, research on alcohol teratogenesis has only recently... 
Fetal alcohol syndrome | Pregnancy | Teratogenesis | Alcohol | Behavior | Ethanol | alcohol | SYSTEM | teratogenesis | ADOLESCENTS | pregnancy | IMPAIRMENTS | PEDIATRICS | behavior | DEFICITS | ethanol | CHILDREN
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 04/2015, Volume 167, Issue 6, pp. 1323 - 1329
In some cases Neu‐Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the... 
phosphoglycerate dehydrogenase | magnetic resonance imaging | Neu‐Laxova syndrome | prenatal diagnosis | serine metabolism | Serine metabolism | Prenatal diagnosis | Phosphoglycerate dehydrogenase | Magnetic resonance imaging | Neu-Laxova syndrome | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Microcephaly - genetics | Seizures - genetics | Humans | Brain Diseases - genetics | Molecular Sequence Data | Fetal Growth Retardation - genetics | Male | Carbohydrate Metabolism, Inborn Errors - genetics | Genes, Lethal | Genetic Variation | Ichthyosis - pathology | Psychomotor Disorders - genetics | Seizures - pathology | Base Sequence | Microcephaly - pathology | Ichthyosis - genetics | Female | Fetus | Fetal Growth Retardation - diagnosis | Abnormalities, Multiple - genetics | Infant, Newborn | Carbohydrate Metabolism, Inborn Errors - diagnosis | Ichthyosis - diagnosis | Severity of Illness Index | Gene Expression | Brain Diseases - diagnosis | Psychomotor Disorders - pathology | Microcephaly - diagnosis | Genotype | Seizures - diagnosis | Codon, Nonsense | Carbohydrate Metabolism, Inborn Errors - pathology | Sequence Analysis, DNA | Fetal Growth Retardation - pathology | Phosphoglycerate Dehydrogenase - genetics | Homozygote | Limb Deformities, Congenital - diagnosis | Phenotype | Brain Diseases - pathology | Pedigree | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Psychomotor Disorders - diagnosis | Consanguinity | Phosphoglycerate Dehydrogenase - deficiency | Limb Deformities, Congenital - pathology | Genetic aspects | Codon | Nucleotide sequencing | Pregnant women | Genes | DNA sequencing
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 7/2015, Volume 6, Issue 3, pp. 241 - 249
Uruguay is a middle-income country and the smallest in South America. Its population is under 3.3 million. The demographic and epidemiological characteristics... 
Human Genetics | Gene Function | Rare diseases | Public Health | Biomedicine | Gene Therapy | Newborn screening | Bioethics | Genetics | Public policy | Epidemiology | Congenital disorders | Medical policy | Care and treatment | Genetic research | Public health administration | Influence | Forecasts and trends | Original
Journal Article
Jornal de Pediatria, ISSN 0021-7557, 08/2008, Volume 84, Issue 4, pp. S76 - S79
OBJETIVO: Ainda que as características clássicas da síndrome fetal alcoólica tenham sido descritas desde 1968, a pesquisa sobre a teratogênese do álcool apenas... 
etanol | Fetal alcohol syndrome | alcohol | teratogenesis | álcool | teratogênese | pregnancy | Síndrome alcoólica fetal | comportamento | gestação | behavior | ethanol
Journal Article
Jornal de pediatria, 07/2018
The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was... 
Journal Article
Genetics and Molecular Biology, ISSN 1678-4685, 12/2008, Volume 31, Issue 4, pp. 829 - 833
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
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