arginine and Abnormalities, Multiple

Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child, Preschool; Facial Paralysis; Female; Fibrosis; Histidine; Humans; Infant; Male; Mutation; Ophthalmoplegia; Peripheral Nervous System Diseases; Syndrome; Tubulin; Young Adult

Topics: Abnormalities, Multiple; Actins; Adult; Amino Acid Substitution; Arginine; Colon; DNA Mutational Analysis; Exome Sequencing; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Intestinal Pseudo-Obstruction; Male; Molecular Diagnostic Techniques; Mutation; Phenotype; Urinary Bladder; Young Adult

Topics: Abnormalities, Multiple; Arginine; Brachydactyly; Child, Preschool; Chromosomes, Human, Pair 16; Face; Female; Fingers; Gene Deletion; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Protein-Arginine N-Methyltransferases; Transcription Initiation Site; Wnt Signaling Pathway

Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child Behavior Disorders; Communication; Humans; Male; Mediator Complex; Mental Retardation, X-Linked; Receptors, Thyroid Hormone; Social Behavior Disorders; Socialization; Syndrome; Tryptophan; Young Adult

Topics: 3' Untranslated Regions; Abnormalities, Multiple; Adenine; Arginine; Cleft Lip; Cleft Palate; Cohort Studies; Cytosine; Exons; Female; Genetic Variation; Genotype; Guanine; Heterozygote; Homozygote; Humans; India; Interferon Regulatory Factors; Introns; Male; Open Reading Frames; Point Mutation; Sequence Analysis, DNA; Serine; Syndrome; Thymine

Topics: Abnormalities, Multiple; Arginine; Cephalometry; Craniosynostoses; Endoscopy; Female; Forehead; Frontal Bone; Humans; Infant; Male; Orbit; Proline; Receptor, Fibroblast Growth Factor, Type 3; Reoperation; Retrospective Studies

Topics: Abnormalities, Multiple; Alleles; Amino Acid Sequence; Animals; Arginine; Cell Cycle Proteins; Disease Models, Animal; F-Box Proteins; F-Box-WD Repeat-Containing Protein 7; Humans; Lung; Mice; Molecular Sequence Data; Neoplasm Proteins; Neoplasms; Point Mutation; Pulmonary Alveoli; Sequence Alignment; Transforming Growth Factor beta; Ubiquitin-Protein Ligases

Topics: Abnormalities, Multiple; Arginine; Child; Child, Preschool; Egypt; Female; Founder Effect; Heterozygote; Humans; Lamin Type A; Leucine; Mandible; Mutation, Missense; Pedigree; Polymorphism, Restriction Fragment Length; Progeria; Protein Stability; Syndrome

Topics: Abnormalities, Multiple; Amino Acid Substitution; Arginine; Aspartic Acid; Carbohydrate Metabolism; Catalytic Domain; Cluster Analysis; Enzyme Activation; Genetic Variation; Genome, Human; Glycogen Storage Disease; Hearing Loss; Histidine; Humans; Lacrimal Apparatus Diseases; Metabolomics; Molecular Sequence Annotation; Phenylalanine; Polymorphism, Single Nucleotide; Proteome; Proteomics; Structure-Activity Relationship; Syndactyly; Tooth Abnormalities; Tyrosine

Topics: Abnormalities, Multiple; Adolescent; Amino Acid Substitution; Arginine; Craniofacial Abnormalities; Genes, Recessive; Genotype; Histidine; Homozygote; Humans; Lamin Type A; Lipodystrophy; Male; Musculoskeletal Abnormalities; Mutation; Phenotype

Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Arginine; Child; Child, Preschool; Ear; Female; Humans; Incidence; Infant, Newborn; Kidney; Limb Deformities, Congenital; Male; Mutation, Missense; Nuclear Family; Transcription Factors

Topics: Abnormalities, Multiple; Arginine; Base Sequence; Bone Morphogenetic Proteins; Carpal Bones; Carrier Proteins; Mutation; Proline; Radiography; Synostosis; Tarsal Bones

Topics: 5' Untranslated Regions; Abnormalities, Multiple; Anodontia; Arginine; Base Sequence; Cleft Lip; Cleft Palate; DNA; DNA Primers; DNA-Binding Proteins; Electrophoresis, Polyacrylamide Gel; Exons; Family Health; Female; Genes, Dominant; Glycine; Heterozygote; Humans; Interferon Regulatory Factors; Male; Molecular Sequence Data; Mouth Abnormalities; Mutation; Pedigree; Penetrance; Phenotype; Promoter Regions, Genetic; Protein Structure, Tertiary; Sequence Analysis, DNA; Syndrome; Transcription Factors; Turkey

Topics: Abnormalities, Multiple; Adenosine Triphosphatases; Amino Acid Substitution; Arginine; Bone and Bones; Child; Cytosine; Diarrhea; DNA Helicases; Glutamine; Growth Disorders; Guanine; Humans; Joint Dislocations; Limb Deformities, Congenital; Male; Mutation; Mutation, Missense; Palate; Patella; Radius; RecQ Helicases; Rothmund-Thomson Syndrome; Syndrome; Thymine

Topics: Abnormalities, Multiple; Adolescent; Adult; Arginine; Bile Ducts, Intrahepatic; Body Height; Bone and Bones; Cardiovascular Abnormalities; Child; Child, Preschool; Cholestasis; Endocrine System; Female; Fibrosis; Follow-Up Studies; Growth Disorders; Growth Hormone; Humans; Intellectual Disability; Male; Ornithine; Osteoporosis; Syndrome; Testis

Topics: Abnormalities, Multiple; Arginine; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Genes, Tumor Suppressor; Genotype; Humans; Immunohistochemistry; Infant, Newborn; Male; Mutation, Missense; Phenotype; Phosphoproteins; Proline; Skin; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins

Topics: Abnormalities, Multiple; Adult; Arginine; Child; Ectodermal Dysplasia; Female; Genes, Tumor Suppressor; Humans; Limb Deformities, Congenital; Male; Middle Aged; Mutation, Missense; Phenotype; Syndrome; Tooth Abnormalities; Transcriptional Activation

Topics: Abnormalities, Multiple; Adult; Arginine; Child, Preschool; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Ectodermal Dysplasia; Female; Fingers; Genotype; Glutamine; Humans; Infant; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Syndrome; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins; Urination Disorders

Topics: Abnormalities, Multiple; Adult; Amino Acid Substitution; Anal Canal; Arginine; Asian People; Female; Homeodomain Proteins; Humans; Korea; Male; Mutation; Pedigree; Rectum; Sacrum; Syndrome; Transcription Factors; Tryptophan

Topics: Abnormalities, Multiple; Arginine; Base Sequence; Cell Line; Cell Proliferation; Child; Child, Preschool; Codon; DNA Mutational Analysis; Guanosine Diphosphate; Humans; Hydrolysis; Infant; Infant, Newborn; Lysine; Molecular Sequence Data; Mutant Proteins; Mutation; Proto-Oncogene Proteins p21(ras); Syndrome

Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Arginine; Case-Control Studies; Conserved Sequence; Diseases in Twins; DNA Helicases; DNA-Binding Proteins; Female; Genes, Dominant; Genetic Variation; Humans; Male; Molecular Sequence Data; Mosaicism; Mutation, Missense; Pedigree; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Siblings; Syndrome; Twins, Monozygotic

Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Child; Erythrocytes; Female; Fibroblasts; Genetic Variation; Humans; Leukocytes; Liver; Lyases; Male

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Substitution; Arginine; DNA; DNA Mutational Analysis; Family Health; Female; Genetic Linkage; Germ-Line Mutation; Humans; Hydrocephalus; Intellectual Disability; Leukocyte L1 Antigen Complex; Male; Membrane Glycoproteins; Mosaicism; Mutation; Neural Cell Adhesion Molecules; Pedigree; Polymorphism, Single-Stranded Conformational; Proline; Spastic Paraplegia, Hereditary; Thumb; X Chromosome

Topics: Abnormalities, Multiple; Adolescent; Arginine; Craniosynostoses; DNA Mutational Analysis; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Male; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome

Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Arginine; Blood Transfusion; Child; Erythrocytes; Female; Humans; Hyperargininemia; Lysine

Topics: Abnormalities, Multiple; Arginine; Child; Consanguinity; Electromyography; Eyelid Diseases; Female; Genes, Recessive; Growth Hormone; Humans; Insulin; Muscular Dystrophies; Pedigree; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Antigens; Arginine; Blood Glucose; Blood Proteins; Body Weight; Child; Child, Preschool; Fatty Acids, Nonesterified; Female; Glucose Tolerance Test; Growth Hormone; Humans; Hypogonadism; Insulin; Intellectual Disability; Male; Obesity; Time Factors

Topics: Abnormalities, Multiple; Arginine; Chromosomes, Human, 6-12 and X; Dwarfism; Growth Hormone; Humans; Insulin; Trisomy