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Journal of Immunology, ISSN 0022-1767, 10/2012, Volume 189, Issue 8, pp. 3957 - 3969
The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by... 
SYSTEM | INDIVIDUALS | PATTERN-RECOGNITION MOLECULES | COMPLEMENT FACTOR-D | MBL | 3MC SYNDROME | STOICHIOMETRY | MUTATIONS | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | Craniofacial Abnormalities - immunology | Transcriptional Activation - genetics | Complement Pathway, Mannose-Binding Lectin - immunology | Blepharoptosis - genetics | Eye Abnormalities - enzymology | Mannose-Binding Protein-Associated Serine Proteases - physiology | Eye Abnormalities - immunology | Humans | Heart Defects, Congenital - immunology | Craniosynostoses - enzymology | Blepharoptosis - immunology | Developmental Disabilities - genetics | Transcriptional Activation - immunology | Strabismus - genetics | Abdominal Muscles - abnormalities | Abnormalities, Multiple - immunology | Heart Defects, Congenital - genetics | Developmental Disabilities - enzymology | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Complement Pathway, Alternative - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Strabismus - enzymology | Abdominal Muscles - immunology | Craniosynostoses - genetics | Complement Pathway, Mannose-Binding Lectin - genetics | Cryptorchidism - enzymology | Abdominal Muscles - enzymology | Hip Dislocation, Congenital - genetics | Codon, Nonsense | Eye Abnormalities - genetics | Animals | Craniofacial Abnormalities - enzymology | Craniosynostoses - immunology | Cryptorchidism - immunology | Hip Dislocation, Congenital - immunology | Complement Pathway, Alternative - immunology | Strabismus - immunology | Abnormalities, Multiple - enzymology | Developmental Disabilities - immunology | Hip Dislocation, Congenital - enzymology | Cryptorchidism - genetics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1514 - 1520
3q27.2‐qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond–Blackfan... 
RNF168 | RPL35A | immunodeficiency | 3q27.2‐qter deletion | Diamond–Blackfan anemia | RIDDLE syndrome | 3q27.2-qter deletion | Diamond-Blackfan anemia | PROTEIN | GENE DELETIONS | ABNORMALITIES | 3Q29 MICRODELETION SYNDROME | DEFECT | PHENOTYPE | GENETICS & HEREDITY | Craniofacial Abnormalities - immunology | Humans | Anemia, Diamond-Blackfan - immunology | Learning Disorders - physiopathology | Craniofacial Abnormalities - physiopathology | DNA Breaks, Double-Stranded | Gene Deletion | Female | Learning Disorders - immunology | Anemia, Diamond-Blackfan - pathology | Immunologic Deficiency Syndromes - immunology | Child | Craniofacial Abnormalities - genetics | Fibroblasts - metabolism | Haploinsufficiency - genetics | Ribosomal Proteins - genetics | Fibroblasts - pathology | Phenotype | Anemia, Diamond-Blackfan - genetics | Immunologic Deficiency Syndromes - physiopathology | Immunologic Deficiency Syndromes - genetics | Learning Disorders - genetics | Primary Cell Culture | Ubiquitin-Protein Ligases - genetics | Chromosomes, Human, Pair 3 - genetics | Haploinsufficiency - immunology | Anemia | Immunodeficiency | Radiosensitivity | Congenital defects | DNA damage | Case reports | Chromosome deletion | Genomes | Gene deletion | Chromosome 3 | DNA repair | Haploinsufficiency | Clonal deletion | Etiology | Mutation
Journal Article
Journal Article
Birth Defects Research Part B: Developmental and Reproductive Toxicology, ISSN 1542-9733, 02/2006, Volume 77, Issue 1, pp. 1 - 9
Journal Article
Hybridoma, ISSN 0272-457X, 1999, Volume 18, Issue 4, pp. 343 - 349
We have generated the first monoclonal antibodies (MAbs) to Armadillo repeat gene deleted in velo-cardiofacial syndrome (ARVCF), a recently identified... 
PROTEIN | BIOCHEMICAL RESEARCH METHODS | E-CADHERIN | IMMUNOLOGY | IDENTIFICATION | MEMBER | GENE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ALPHA-CATENIN | MULTIGENE FAMILY | P120 | TYROSINE KINASE SUBSTRATE | CARDIO-FACIAL SYNDROME | Craniofacial Abnormalities - immunology | Phosphoproteins - immunology | Armadillos - genetics | Cadherins - metabolism | Species Specificity | Velopharyngeal Insufficiency - genetics | Humans | Heart Defects, Congenital - immunology | Molecular Sequence Data | Cell Adhesion Molecules - immunology | Phosphoproteins - metabolism | Abnormalities, Multiple - immunology | Catenins | Heart Defects, Congenital - genetics | Gene Deletion | Binding Sites | Abnormalities, Multiple - genetics | Antibodies, Monoclonal - immunology | Craniofacial Abnormalities - genetics | DiGeorge Syndrome - genetics | Amino Acid Sequence | Repetitive Sequences, Nucleic Acid - genetics | Armadillos - immunology | Repetitive Sequences, Amino Acid - immunology | Rats | Repetitive Sequences, Amino Acid - genetics | Antibody Affinity | Cell Line - chemistry | Cell Adhesion Molecules - metabolism | Blotting, Western | Precipitin Tests | DiGeorge Syndrome - immunology | Haplorhini | Sequence Homology, Amino Acid | Animals | Dogs | Fluorescent Antibody Technique | Hybridomas - immunology | Antibody Formation | Cell Adhesion Molecules - analysis | Intercellular Junctions - chemistry | Mice | Velopharyngeal Insufficiency - immunology
Journal Article
AIDS, ISSN 0269-9370, 09/2012, Volume 26, Issue 14, pp. 1775 - 1779
Objective: Congenital anomalies may be caused by genetic or environmental factors or a combination of both. Oblique facial clefts are very rare congenital... 
amnion disruption complex sequence | antiretroviral | oblique facial clefts | efavirenz | INFECTIOUS DISEASES | VIROLOGY | AMNIOTIC BANDS | IMMUNOLOGY | CONGENITAL-ANOMALIES | Prenatal Exposure Delayed Effects | Eye Abnormalities - diagnostic imaging | Teratogens | Humans | Cleft Palate - surgery | Infant | Craniofacial Dysostosis - chemically induced | Anti-HIV Agents - administration & dosage | Adult | Female | Cleft Palate - diagnostic imaging | Eye Abnormalities - chemically induced | Imaging, Three-Dimensional | Infant, Newborn | Cleft Palate - chemically induced | Abnormalities, Drug-Induced - diagnostic imaging | Craniofacial Dysostosis - surgery | Benzoxazines - administration & dosage | Child of Impaired Parents | Abnormalities, Drug-Induced - surgery | Anti-HIV Agents - adverse effects | Benzoxazines - adverse effects | Maxillofacial Abnormalities - diagnostic imaging | Maxillofacial Abnormalities - surgery | Craniofacial Dysostosis - diagnostic imaging | Maxillofacial Abnormalities - chemically induced | Acquired Immunodeficiency Syndrome - drug therapy | Eye Abnormalities - surgery | Pregnancy | Radiography | Abnormalities, Drug-Induced - etiology | Index Medicus | AIDS/HIV | Antiviral agents | Animal models | Congenital defects | Fetuses | Rupture | Case reports | Data processing | Environmental factors | Infants | Efavirenz | Intrauterine exposure | Teratogenicity | Amnion | Prenatal experience
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 7/2016, Volume 36, Issue 5, pp. 462 - 471
Journal Article
Development, ISSN 0950-1991, 2001, Volume 128, Issue 8, pp. 1253 - 1264
Journal Article
Emerging Infectious Diseases, ISSN 1080-6040, 07/2016, Volume 22, Issue 7, pp. 1185 - 1192
Journal Article