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The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10047, pp. 898 - 904
Summary Background Zika virus is an arthropod-borne virus that is a member of the family Flaviviridae transmitted mainly by mosquitoes of the genus Aedes .... 
Internal Medicine | ETIOLOGY | MEDICINE, GENERAL & INTERNAL | STATES | VIRUS-INFECTION | ARTHROGRYPOSIS | UPDATE | TISSUES | BRAIN | PCR | Pregnancy Trimester, Second | Limb Deformities, Congenital - virology | Pregnancy Complications, Infectious - virology | Neuroglia - pathology | Zika Virus Infection - congenital | Humans | Abortion, Spontaneous - virology | Brain - virology | Infant | Male | Microcephaly - virology | Pregnancy Trimester, First | Pregnancy Trimester, Third | Antigens, Viral - isolation & purification | Autopsy | Microcephaly - pathology | Fatal Outcome | Brazil | Adult | Female | RNA, Viral - isolation & purification | Zika Virus - immunology | Zika Virus Infection - pathology | Zika Virus - isolation & purification | Reverse Transcriptase Polymerase Chain Reaction | Pregnancy Complications, Infectious - pathology | Syndrome | Immunohistochemistry - methods | Pregnancy | Ultrasonography, Prenatal | Limb Deformities, Congenital - diagnostic imaging | Placenta - pathology | Brain - pathology | Neuroglia - virology | Placenta - virology | Virus diseases | Mosquitoes | Lung diseases | Birth defects | Conjunctivitis | Health aspects | Hyperthermia | Abortion | Fever | Zoonoses | Diseases | Disease transmission | Genetic disorders | Analysis | Pathology | Zika virus | Congenital diseases | Maternal & child health | Newborn babies | Health risk assessment
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 7/2016, Volume 132, Issue 1, pp. 111 - 126
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 753 - 761
Journal Article
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2411 - 2417
Congenital disorders of Glycosylation (CDG) are increasingly emerging as a major underlying etiology for patients with complex neurogenetic malformations and... 
arthrogryposis | dolichyl‐phosphate alpha‐N‐acetylglucosaminyltransferase | Congenital disorder of glycosylation type IJ | Arthrogryposis | Dolichyl-phosphate alpha-N-acetylglucosaminyltransferase | GENETICS & HEREDITY | PHENOTYPE | CDG-IJ | SPECTRUM | dolichyl-phosphate alpha-N-acetylglucosaminyltransferase | DEFICIENCY | Abnormalities, Multiple - pathology | Cleft Palate - diagnosis | Limb Deformities, Congenital - genetics | Humans | Molecular Sequence Data | N-Acetylglucosaminyltransferases - genetics | Hydrocephalus - pathology | Cleft Palate - genetics | Mutation, Missense | Contracture - genetics | Congenital Disorders of Glycosylation - pathology | Arthrogryposis - diagnosis | Contracture - complications | Female | Arthrogryposis - pathology | Hydrocephalus - genetics | Abnormalities, Multiple - genetics | Congenital Disorders of Glycosylation - genetics | Infant, Newborn | Amino Acid Sequence | Diagnosis, Differential | Gene Expression | Hydrocephalus - diagnosis | Contracture - pathology | Arthrogryposis - complications | Hydrocephalus - complications | Arthrogryposis - genetics | Congenital Disorders of Glycosylation - complications | Limb Deformities, Congenital - diagnosis | Sequence Alignment | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Cleft Palate - pathology | Cleft Palate - complications | Limb Deformities, Congenital - complications | Congenital Disorders of Glycosylation - diagnosis | Limb Deformities, Congenital - pathology | Genetic disorders | Cataracts | Cerebellum | Transferrin | Congenital diseases | Akinesia | Fetuses | Glycosylation | Pregnancy | Myelination | Missense mutation | Magnetic resonance imaging | Etiology | Differential diagnosis | Isoelectric focusing
Journal Article