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2011, ISBN 9814273848, viii, 283
Book
Clinica e Investigacion en Ginecologia y Obstetricia, ISSN 0210-573X, 01/2014, Volume 41, Issue 1, pp. 35 - 37
Congenital malformations constitute a public health problem in Mexico, affecting approximately 2-6% of newborns. Central nervous system malformations are the... 
Folic acid | Exencephaly
Journal Article
Birth Defects Research, ISSN 2472-1727, 01/2017, Volume 109, Issue 2, pp. 81 - 91
BACKGROUNDPericonception maternal nutrition and folate in particular are important factors influencing the incidence of neural tube defects (NTDs). Many but... 
folic acid supplementation | neural tube defects | iron deficiency | spina bifida | exencephaly | Spina bifida | Iron deficiency | Neural tube defects | Exencephaly | Folic acid supplementation | Index Medicus
Journal Article
Gorm, ISSN 1300-4751, 02/2016, Volume 21, Issue 2
Limb Body Wall Complex (LBWC) is a rare developmental anomaly which is classified together with midline defects. Despite the anomaly arises from an error... 
Limb body wall complex, Ultrasonography, Exencephaly, Megacystis
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to... 
CHROMATIN REMODELING COMPLEX | PROTEIN | BIOLOGY | CLOSURE | MICE | NEUROSCIENCES | CLINICAL NEUROLOGY | Congenital defects | Neural tube defects | Health risks | Environmental factors | Birth defects | Risk analysis | Risk factors | Chromatin remodeling | Encephalocele | Etiology | Alleles | Exencephaly | Twins | Index Medicus
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 17354 - 17
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2012, Volume 21, Issue 9, pp. 1945 - 1953
There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to... 
COUPLED-RECEPTORS | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN OBESITY SYNDROME | MOUSE MODEL | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | SYNDROME GENE | INTRAFLAGELLAR TRANSPORT | HEDGEHOG SIGNAL-TRANSDUCTION | PRIMARY CILIA | Bardet-Biedl Syndrome - metabolism | Microtubule-Associated Proteins - genetics | Receptors, G-Protein-Coupled - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Hedgehog Proteins - metabolism | Male | Transfection | Hedgehog Proteins - genetics | Smoothened Receptor | Tumor Suppressor Proteins - genetics | Bardet-Biedl Syndrome - genetics | Female | Patched Receptors | Recombinant Proteins - metabolism | Tumor Suppressor Proteins - metabolism | Signal Transduction | Cells, Cultured | Mutant Proteins - genetics | Receptors, Cell Surface - metabolism | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Cilia - metabolism | Mice, Knockout | Pregnancy | Phenotype | Animals | Mice | Receptors, G-Protein-Coupled - genetics | Patched-1 Receptor | Receptors, Cell Surface - genetics | Edema | Limbs | Obesity | retinal degeneration | Retinopathy | Statistical analysis | Diabetes mellitus | Bardet-Biedl syndrome | Lethality | Embryos | Kidney | Patched protein | Hereditary diseases | Embryogenesis | Hedgehog protein | Infertility | Exencephaly | Polydactyly | Cilia | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, pp. e89448 - e89448
Disruption of the Hedgehog signaling pathway has been implicated as an important molecular mechanism in the pathogenesis of fetal alcohol syndrome. In severe... 
SHH | RISK-FACTORS | FLOOR PLATE | GENE | MULTIDISCIPLINARY SCIENCES | FETAL ALCOHOL SYNDROME | HOLOPROSENCEPHALY-LIKE FEATURES | 4 BRAZILIAN PATIENTS | MICE | MUTATIONS | NEURAL CREST | Mice, Inbred C57BL | Zinc Finger Protein Gli2 | Ethanol - administration & dosage | Hedgehog Proteins - metabolism | Genotype | Male | Holoprosencephaly - pathology | Mutation - genetics | Mice, Knockout | Pregnancy | Fetal Alcohol Spectrum Disorders - metabolism | Animals | Fetal Alcohol Spectrum Disorders - pathology | Hedgehog Proteins - genetics | Signal Transduction - drug effects | Ethanol - adverse effects | Holoprosencephaly - chemically induced | Female | Signal Transduction - physiology | Mice | Kruppel-Like Transcription Factors - genetics | Crosses, Genetic | Prosencephalon - pathology | Fetal alcohol syndrome | Brain | Alcohol, Denatured | Pregnant women | Effect of alcohol on | Fetus | Alcohol | Genetic aspects | Pathogenesis | Genes | Forebrain | Risk factors | Ecological risk assessment | Signal transduction | Etiology | Exencephaly | Prenatal experience | Proboscis | Ethanol | Abnormalities | Fetuses | Birth defects | Exposure | Risk analysis | Environmental risk | Holoprosencephaly | Cleft lip/palate | Haploinsufficiency | Studies | Signaling | Brain research | Gene frequency | Hedgehog protein | Teratogenicity | Mutation | Laboratory animals | Females | Index Medicus
Journal Article
Journal Article