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American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B16 - B18
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | Humans | Congenital Bone Marrow Failure Syndromes - complications | Lower Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Thrombocytopenia - complications | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Thrombocytopenia - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Chorionic Villi Sampling | Heart Septal Defects, Atrial - genetics | Fanconi Anemia - genetics | Valproic Acid - adverse effects | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Thumb - diagnostic imaging | Carpal Bones - abnormalities | Fanconi Anemia - complications | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - diagnostic imaging | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome - diagnosis | Radius - diagnostic imaging | Limb Deformities, Congenital - genetics | Spine - abnormalities | Amniotic Band Syndrome - complications | Heart Septal Defects, Atrial - complications | Congenital Bone Marrow Failure Syndromes - genetics | Trisomy 13 Syndrome - complications | Female | Amniotic Band Syndrome - diagnosis | Carpal Bones - diagnostic imaging | Trachea - abnormalities | Amniocentesis | Trisomy 13 Syndrome - genetics | Diagnosis, Differential | Lower Extremity Deformities, Congenital - diagnosis | Radius - abnormalities | Esophagus - abnormalities | Upper Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - genetics | Congenital Bone Marrow Failure Syndromes - diagnosis | Anal Canal - abnormalities | Pregnancy | Limb Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Ultrasonography, Prenatal | Trisomy 18 Syndrome - genetics | Limb Deformities, Congenital - complications | Thrombocytopenia - diagnosis | Thumb - abnormalities | Abnormalities, Drug-Induced - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome | Index Medicus
Journal Article
Clinical genetics, ISSN 0009-9163, 01/2019, Volume 95, Issue 1, pp. 132 - 139
SHFM | ectrodactyly | lobster claw deformity | malformation of limb | oligodactyly | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Gene Expression Regulation - genetics | Humans | Foot Deformities, Congenital - genetics | Syndactyly - pathology | Homeodomain Proteins - genetics | Hand Deformities, Congenital - genetics | Wnt Signaling Pathway - genetics | Mutation | Fibroblast Growth Factor 8 - genetics | Bone Morphogenetic Proteins - genetics | Hand Deformities, Congenital - pathology | Foot Deformities, Congenital - pathology | Limb Deformities, Congenital - pathology | Syndactyly - genetics | Genetic research | Cell death | Fibroblast growth factors | Signal transduction | Wnt protein | Hedgehog protein | Syndactyly | Fibroblast growth factor 8 | Fibroblast growth factor receptor 1 | Feet | Apoptosis | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 434 - 439
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Limb Deformities, Congenital - genetics | Sequence Deletion | Growth Disorders - pathology | Humans | Foot Deformities, Congenital - genetics | Male | Mutation, Missense | Genes, Dominant | Female | Parathyroid Hormone-Related Protein - deficiency | Disease Models, Animal | Foot Deformities, Congenital - pathology | Recombinant Proteins - metabolism | Parathyroid Hormone-Related Protein - genetics | Cells, Cultured | Recombinant Proteins - genetics | Codon, Nonsense | Chick Embryo | Mice, Knockout | Point Mutation | Phenotype | Animals | Hand Deformities, Congenital - genetics | Pedigree | Mice | Mutation | Growth Disorders - genetics | Hand Deformities, Congenital - pathology | Limb Deformities, Congenital - pathology | Chromosome deletion | Research | Gene mutations | Parathyroid hormone | Proteins | Cell culture | Bones | Hormones | Anatomy & physiology | Gene expression | Index Medicus | Report
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Limb Deformities, Congenital - genetics | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Male | Young Adult | Wnt Proteins - genetics | Adult | Female | Hand Deformities, Congenital - diagnostic imaging | Genetic Predisposition to Disease | Segmental Duplications, Genomic - genetics | Proto-Oncogene Proteins - genetics | Comparative Genomic Hybridization - methods | Proteasome Endopeptidase Complex - genetics | Radiography | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Pedigree | Limb Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 10 - genetics | Gene Rearrangement - genetics | F-Box Proteins - genetics | Neonates | Phenotypes | Dysplasia | Hydrocephalus | Gene regulation | Heredity | Chromosome 3 | Chromosome 2 | Hypogonadism | Corpus callosum | Morphogenesis | Aplasia | Dlx5 protein | Chromosome 10 | Chromosome 12 | Bone (long) | Skin | Index Medicus | Life Sciences | Genetics | Human genetics | Developmental biology | Clinical genetics | Review
Journal Article
The New England journal of medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Limb Deformities, Congenital - genetics | Hydrolases - genetics | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Niacin - therapeutic use | Heart Defects, Congenital - prevention & control | NAD - deficiency | NAD - biosynthesis | Female | Disease Models, Animal | Trachea - abnormalities | Hydrolases - metabolism | Limb Deformities, Congenital - prevention & control | NAD - genetics | Congenital Abnormalities - prevention & control | Esophagus - abnormalities | Sequence Analysis, DNA | Mice, Knockout | Anal Canal - abnormalities | Animals | Kidney - abnormalities | 3-Hydroxyanthranilate 3,4-Dioxygenase - genetics | Mice | Mutation | Dietary Supplements | 3-Hydroxyanthranilate 3,4-Dioxygenase - metabolism | Safety and security measures | Gene mutations | NAD (Coenzyme) | Dosage and administration | Birth defects | Research | Niacin | CRISPR | Dioxygenase | Enzymes | Congenital diseases | Congenital defects | Adenine | Tryptophan | Prenatal development | Gestation | Metabolism | Patients | Embryos | NAD | Metabolites | Vitamin B | Genetics | Nicotinamide | Supplementation | Index Medicus | Abridged Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 05/2019, Volume 28, Issue 10, pp. 1671 - 1681
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | GATA3 Transcription Factor - genetics | Limb Deformities, Congenital - genetics | Kidney - pathology | Humans | Urogenital System - physiopathology | Foot Deformities, Congenital - genetics | Limb Deformities, Congenital - physiopathology | Urogenital System - growth & development | Foot Deformities, Congenital - physiopathology | Mullerian Ducts - physiopathology | Urogenital Abnormalities - physiopathology | Abnormalities, Multiple - genetics | Ureter - physiopathology | Ureter - abnormalities | Abnormalities, Multiple - physiopathology | Homeodomain Proteins - genetics | Animals | Hand Deformities, Congenital - genetics | Kidney - abnormalities | Hand Deformities, Congenital - physiopathology | Mice | Mutation | Extremities - growth & development | Extremities - physiopathology | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
International orthopaedics, ISSN 0341-2695, 8/2019, Volume 43, Issue 8, pp. 1993 - 1998
Hippocrates | Medicine & Public Health | Corpus Hippocraticum | Wilhelm Roser | Orthopedics | Congenital limb deformities | Ancient Greece | Orthotics | Orthopaedics | Clubfoot | Ambroise Paré | Life Sciences & Biomedicine | Science & Technology | Greece, Ancient | History, Ancient | Orthopedics - history | Orthopedic Procedures - history | Humans | Anatomy, Comparative - history | Limb Deformities, Congenital - history | Medical colleges | Orthopedic equipment and supplies | Genetic disorders | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article