proline and Syndrome

Topics: Adaptor Proteins, Signal Transducing; Autoimmune Diseases; Cytokines; Cytoskeletal Proteins; Humans; Inflammasomes; Interferons; Interleukin-18; Interleukin-1beta; Neutrophils; NF-kappa B; Oxidoreductases; Phosphoprotein Phosphatases; Proline; Pyrin; Syndrome

Topics: Amino Acid Substitution; Child; Diabetes Mellitus; DNA Mutational Analysis; Exome Sequencing; Hepatocyte Nuclear Factor 3-beta; Humans; Leucine; Male; Models, Molecular; Mutation, Missense; Polymorphism, Single Nucleotide; Proline; Syndrome

Topics: Amino Acid Substitution; Animals; Arginine; Child; Developmental Disabilities; Drinking; Epilepsy; Humans; Hyperglycemia; Male; Models, Molecular; Mutation, Missense; Potassium Channels, Inwardly Rectifying; Proline; Rats; Rats, Wistar; Syndrome

Topics: Arginine; Bone and Bones; Craniosynostoses; Facies; Female; Genes, Dominant; History, 20th Century; Humans; Infant, Newborn; Mutation; Penetrance; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome; Tomography, X-Ray Computed

Topics: Adult; Aged; Amino Acid Motifs; Animals; Child; Epithelial Sodium Channels; Female; Humans; Hypertension; Mutation, Missense; Proline; Protein Subunits; Sodium Channels; Syndrome; Xenopus

Topics: Adult; Amino Acid Sequence; Ectodermal Dysplasia; Female; Humans; Keratins; Keratoderma, Palmoplantar; Keratosis; Mouth Diseases; Mutation, Missense; Nails, Malformed; Proline; Syndrome

Topics: Adolescent; Amino Acid Substitution; Arginine; Child; Child, Preschool; Craniosynostoses; Craniotomy; Female; Heterozygote; Humans; Intracranial Hypertension; Male; Point Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Reoperation; Retrospective Studies; Syndrome

Topics: Acrocephalosyndactylia; Adolescent; Amino Acid Substitution; Arginine; Child, Preschool; Ear; Hearing Loss, Sensorineural; Humans; Intellectual Disability; Intracranial Pressure; Mutation; Nuclear Proteins; Pedigree; Proline; Receptor, Fibroblast Growth Factor, Type 3; Repetitive Sequences, Nucleic Acid; Syndrome; Synostosis; Twist-Related Protein 1

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: Adenocarcinoma, Mucinous; Adenoma; Adult; Brain Neoplasms; Carcinoma; Cholangiocarcinoma; Colorectal Neoplasms, Hereditary Nonpolyposis; DNA Mutational Analysis; DNA Probes; DNA-Binding Proteins; Endometrial Neoplasms; Female; Germ-Line Mutation; Humans; Liver Neoplasms; Microsatellite Instability; Mutation, Missense; MutS Homolog 2 Protein; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Polyps; Proline; Sebaceous Gland Neoplasms; Serine; Skin Neoplasms; Syndrome

Topics: Amino Acid Substitution; Arginine; Chi-Square Distribution; Cranial Sutures; Craniosynostoses; Facial Asymmetry; Female; Humans; Imaging, Three-Dimensional; Infant; Male; Mutation, Missense; Proline; Receptor, Fibroblast Growth Factor, Type 3; Severity of Illness Index; Sex Ratio; Statistics, Nonparametric; Syndrome; Tomography, X-Ray Computed

Topics: Abnormalities, Multiple; Adult; Alanine; Anterior Eye Segment; Asian People; Base Sequence; Child, Preschool; Eye Abnormalities; Female; Forkhead Transcription Factors; Frameshift Mutation; Gene Deletion; Genes, Dominant; Humans; Mutation, Missense; Pedigree; Phenotype; Proline; Protein Structure, Tertiary; Syndrome

Topics: Adolescent; Cephalometry; Chromosomes, Human, Pair 13; Codon; Cranial Fossa, Posterior; Craniofacial Abnormalities; Cytosine; Eye Abnormalities; Facial Bones; Female; Forkhead Transcription Factors; Heterozygote; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Leucine; Male; Malocclusion, Angle Class III; Maxilla; Middle Aged; Mutation, Missense; Proline; Sella Turcica; Syndrome; Thymine; Tooth Abnormalities; Transcription Factors; Young Adult

Topics: Captopril; Female; Humans; Hypertension, Pulmonary; Middle Aged; Proline; Scleroderma, Systemic; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Chromosomes, Human, Pair 22; Female; Gene Deletion; Heparin Cofactor II; Humans; Proline; Proline Oxidase; Syndrome

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: Adult; Alleles; Base Sequence; Codon; DNA; Epithelium; Female; Humans; Hypertension; Male; Mutagenesis; Pedigree; Point Mutation; Polymerase Chain Reaction; Proline; Sequence Analysis, DNA; Serine; Sodium Channels; Syndrome

Topics: Adult; Arginine; Craniosynostoses; Female; Humans; Infant; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome

Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Infant; Infant, Newborn; Male; Proline; Proline Oxidase; Syndrome

Topics: Adult; Arginine; Child, Preschool; Craniosynostoses; Facies; Family Health; Female; Humans; Klippel-Feil Syndrome; Male; Mutation; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Shoulder; Syndrome

Topics: Adult; Afterimage; Comorbidity; Diagnosis, Differential; Fatigue Syndrome, Chronic; Female; Humans; Hydroxyproline; Infections; Lipids; Male; Methylhistidines; Perceptual Disorders; Proline; Syndrome; Visual Perception

Topics: Allergens; Animals; Contractile Proteins; Cross Reactions; Dose-Response Relationship, Immunologic; Electrophoresis, Polyacrylamide Gel; Enzyme-Linked Immunosorbent Assay; Epitopes; Food Hypersensitivity; Fruit; Galectin 3; Glycosylation; Humans; Immunoblotting; Immunoglobulin E; Immunoglobulin G; Microfilament Proteins; Molecular Weight; Peptides; Pollen; Profilins; Proline; Rabbits; Syndrome

Topics: Aldosterone; Angiotensin I; Angiotensin II; Arginine Vasopressin; Blood Pressure; Captopril; Female; Humans; Hypertension, Malignant; Hyponatremia; Middle Aged; Potassium; Proline; Renal Artery Obstruction; Renin; Syndrome

Topics: Adult; Alanine; Collagen; Dermatan Sulfate; Facial Neoplasms; Galactosidases; Glucuronidase; Glycine; Glycosaminoglycans; Hexosaminidases; Histiocytoma, Benign Fibrous; Humans; Hyaluronic Acid; Hydroxyproline; Male; Proline; Syndrome; Tuberous Sclerosis; Water

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Glycine; Humans; Imino Acids; Infant, Newborn; Kidney Tubules; Mutation; Proline; Renal Tubular Transport, Inborn Errors; Syndrome

Topics: Alopecia; Ectodermal Dysplasia; Hair; Humans; Ichthyosis; Infant; Male; Proline; Renal Aminoacidurias; Scalp Dermatoses; Syndrome

Topics: Adult; Aged; Alanine; Amino Acids; Chromatography, Thin Layer; Chronic Disease; Creatinine; Female; Glycine; Humans; Hydroxyproline; Imino Acids; Kidney Failure, Chronic; Male; Middle Aged; Nephritis, Interstitial; Nitrogen; Proline; Syndrome; Uric Acid

Topics: Animals; Carcinoma, Squamous Cell; Collagen; Hexosamines; Hydrolysis; Hydroxyproline; Neoplasm Proteins; Neoplasm Transplantation; Neoplasms, Experimental; Nitrogen; Proline; Rats; Solubility; Syndrome

Topics: Biological Assay; Child; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Dansyl Compounds; Diagnosis, Differential; Dipeptidases; Erythrocytes; Humans; Lathyrism; Leukocytes; Male; Metabolism, Inborn Errors; Peptides; Proline; Proteinuria; Renal Aminoacidurias; Syndrome; Time Factors