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BMJ, ISSN 0959-8146, 4/2016, Volume 353, pp. i1901 - i1901
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10042, pp. 338 - 339
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(16)31017-0 Byline: Simon Cauchemez, Marianne Besnard,... 
Internal Medicine | Pregnancy | Zika Virus Infection - epidemiology | Humans | Zika Virus | Female | Male | Microcephaly - epidemiology | Virus diseases | Complications and side effects | Epidemiology | Zika virus | Microcephaly | Health risk assessment | Viral infections | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 581 - 593
Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na+/H+ exchanger 6 (NHE6). We aimed to determine... 
ANGELMAN-LIKE SYNDROME | WIDE ASSOCIATION SCAN | LINKED MENTAL-RETARDATION | SODIUM/PROTON EXCHANGER | DEFICIT HYPERACTIVITY DISORDER | FAMILIES | EPILEPSY | NA+/H+ EXCHANGER | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | SLC9A6 GENE | Microcephaly - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Electroencephalography | Brain - growth & development | Epilepsy - etiology | Ocular Motility Disorders - genetics | Autistic Disorder - etiology | Intellectual Disability - genetics | Young Adult | Developmental Disabilities - pathology | Microcephaly - pathology | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Sodium-Hydrogen Exchangers - genetics | Ataxia - genetics | Child | Ataxia - pathology | Autistic Disorder - genetics | Microcephaly - complications | Ocular Motility Disorders - pathology | Intellectual Disability - pathology | Genotype | Mutation - genetics | Disease Progression | Epilepsy - complications | Magnetic Resonance Imaging | Regression Analysis | Phenotype | Adolescent | Brain - pathology | Genetic Diseases, X-Linked - pathology | Ataxia - complications | Ocular Motility Disorders - complications | Developmental Disabilities - complications | Epilepsy - pathology | Autism | Behavior | Mutation | Index Medicus
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 10, pp. 522 - 525
Abstract Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female... 
Medical Education | X-linked intellectual disability | PPM-X syndrome | MECP2 gene | Rett syndrome | Angelman-like phenotype | MENTAL-RETARDATION | RETT-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | Rett Syndrome - complications | Mental Retardation, X-Linked - complications | Microcephaly - genetics | Humans | Middle Aged | Genetic Diseases, X-Linked - complications | Mental Retardation, X-Linked - physiopathology | Intellectual Disability - complications | Male | Epilepsy - physiopathology | Methyl-CpG-Binding Protein 2 - genetics | Ocular Motility Disorders - genetics | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Microcephaly - physiopathology | Ataxia - genetics | Genetic Diseases, X-Linked - physiopathology | Ataxia - physiopathology | Microcephaly - complications | Genes, X-Linked - genetics | Rett Syndrome - physiopathology | Epilepsy - complications | Intellectual Disability - physiopathology | Phenotype | Pedigree | Muscle Spasticity - complications | Aged | Ataxia - complications | Muscle Spasticity - physiopathology | Ocular Motility Disorders - complications | Ocular Motility Disorders - physiopathology | Rett Syndrome - genetics | Muscle Spasticity - genetics | Family | Genetic aspects | Mental illness | Language acquisition | Protein binding | Index Medicus
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10042, pp. 338 - 338
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(16)31104-7 Byline: Andre Ricardo Ribas Freitas, Marcelo... 
Internal Medicine | OUTBREAK | MEDICINE, GENERAL & INTERNAL | STATES | Pregnancy | Zika Virus Infection - epidemiology | Humans | Zika Virus | Female | Male | Microcephaly - epidemiology | Virus diseases | Complications and side effects | Epidemiology | Zika virus | Health risk assessment | Microcephaly | Fetuses | Viral infections | Index Medicus | Abridged Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, pp. 118 - 126
Folate metabolism in the brain is critically important and serves a number of vital roles in nucleotide synthesis, single carbon metabolism/methylation, amino... 
Neurometabolism | Folinic acid | 5,10-methenyltetrahydrofolate synthetase | Neurodegeneration | Folate | MEDICINE, RESEARCH & EXPERIMENTAL | SERINE HYDROXYMETHYLTRANSFERASE | 5-FORMYLTETRAHYDROFOLATE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Metabolic Diseases - pathology | Microcephaly - genetics | Humans | Carbon-Nitrogen Ligases - cerebrospinal fluid | Tetrahydrofolates - cerebrospinal fluid | Male | Psychomotor Disorders - complications | Carbon-Nitrogen Ligases - genetics | Brain - metabolism | Nervous System Malformations - metabolism | Microcephaly - cerebrospinal fluid | Carbon-Nitrogen Ligases - deficiency | Antiporters - metabolism | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Tetrahydrofolates - metabolism | Brain - pathology | Amino Acid Transport Systems, Acidic - cerebrospinal fluid | Neuroaxonal Dystrophies | Antiporters - cerebrospinal fluid | Metabolic Diseases - complications | Psychomotor Disorders - cerebrospinal fluid | Mitochondrial Diseases - cerebrospinal fluid | Amino Acid Transport Systems, Acidic - metabolism | Mitochondrial Diseases - metabolism | Amino Acid Transport Systems, Acidic - deficiency | Epilepsy - cerebrospinal fluid | Mitochondrial Diseases - complications | Psychomotor Disorders - metabolism | Psychomotor Disorders - genetics | Microcephaly - pathology | Antiporters - genetics | Epilepsy - genetics | Female | Nervous System Malformations - genetics | Hereditary Central Nervous System Demyelinating Diseases - genetics | Antiporters - deficiency | Mitochondrial Diseases - genetics | Microcephaly - complications | Carbon-Nitrogen Ligases - metabolism | Nervous System Malformations - cerebrospinal fluid | Folate Receptor 1 - deficiency | Metabolic Diseases - cerebrospinal fluid | Epilepsy - complications | Nervous System Malformations - complications | Amino Acid Transport Systems, Acidic - genetics | Metabolic Diseases - genetics | Hereditary Central Nervous System Demyelinating Diseases - cerebrospinal fluid | Hereditary Central Nervous System Demyelinating Diseases - complications | Epilepsy - pathology | Medical research | Metabolites | Ligases | Epilepsy | Physiological aspects | Medicine, Experimental | Amino acids | Leucovorin | Genetic translation | Folic acid | Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 22, pp. 2142 - 2151
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 841 - 857
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task... 
dysmorphology | fetal brain disruption sequence | congenital Zika syndrome | disruption | teratogen | teratology | Zika virus | disruptive sequence | congenital Zika infection | congenital Zika sequence | VIRUS-INFECTION | FETAL SKULL | BIRTH-DEFECTS | HUMAN PALMAR | LINGUAL FRENULA | BRAZIL | BRAIN DISRUPTION SEQUENCE | INFANTS | GENETICS & HEREDITY | FETUSES | HEAD CIRCUMFERENCE | Neuroimaging | Humans | Brain - virology | Infant | Brain - abnormalities | Microcephaly - epidemiology | Disease Outbreaks | Fetal Diseases - epidemiology | Immunoglobulin G - cerebrospinal fluid | Microcephaly - pathology | Zika Virus Infection - complications | Female | Fetus | Antibodies, Viral - cerebrospinal fluid | Brazil - epidemiology | Zika Virus - pathogenicity | Pregnancy Complications, Infectious - diagnosis | Zika Virus - immunology | Microcephaly - complications | Zika Virus - growth & development | Pregnancy Complications, Infectious - epidemiology | Zika Virus Infection - pathology | Zika Virus Infection - diagnostic imaging | Fetal Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Pregnancy Complications, Infectious - pathology | Syndrome | Pregnancy | Zika Virus Infection - epidemiology | Fetal Diseases - pathology | Medical research | Task forces | Pregnant women | Medical genetics | Medicine, Experimental | Infants | Birth defects | Health aspects | Infections | Medical imaging | Microcephaly | Index Medicus
Journal Article
Child's Nervous System, ISSN 0256-7040, 12/2013, Volume 29, Issue 12, pp. 2151 - 2155
Mowat–Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual... 
Hirschsprung's disease | Cancer genetics | Neurosciences | Medicine & Public Health | Brain cancer | Mowat–Wilson syndrome | Neurosurgery | Children |