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1. Full Text Radial Ray Malformation
by Gandhi, Manisha and Rac, Martha W.F and McKinney, Jennifer and Society for Maternal-Fetal Medicine (SMFM) and Soc Maternal-Fetal Med SMFM
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
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2. Full Text VACTERL/VATER association
by Solomon, Benjamin D
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
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3. Full Text Genetic regulatory pathways of split‐hand/foot malformation
by Kantaputra, Piranit N and Carlson, Bruce M
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
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4. Full Text Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
by Klopocki, Eva and Hennig, Bianca P and Dathe, Katarina and Koll, Randi and de Ravel, Thomy and Baten, Emiel and Blom, Eveline and Gillerot, Yves and Weigel, Johannes F.W and Krüger, Gabriele and Hiort, Olaf and Seemann, Petra and Mundlos, Stefan
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
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5. Full Text Duplication of 10q24 locus: broadening the clinical and radiological spectrum
by Holder-Espinasse, Muriel and Jamsheer, Aleksander and Escande, Fabienne and Andrieux, Joris and Petit, Florence and Sowinska-Seidler, Anna and Socha, Magdalena and Jakubiuk-Tomaszuk, Anna and Gerard, Marion and Mathieu-Dramard, Michèle and Cormier-Daire, Valérie and Verloes, Alain and Toutain, Annick and Plessis, Ghislaine and Jonveaux, Philippe and Baumann, Clarisse and David, Albert and Farra, Chantal and Colin, Estelle and Jacquemont, Sébastien and Rossi, Annick and Mansour, Sahar and Ghali, Neeti and Moncla, Anne and Lahiri, Nayana and Hurst, Jane and Pollina, Elena and Patch, Christine and Ahn, Joo Wook and Valat, Anne-Sylvie and Mezel, Aurélie and Bourgeot, Philippe and Zhang, David and Manouvrier-Hanu, Sylvie
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
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6. Full Text NAD Deficiency, Congenital Malformations, and Niacin Supplementation
by Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M.M.A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W.K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L
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
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7. Full Text Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome
by Roux, Marine and Bouchard, Maxime and Kmita, Marie
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
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8. Full Text Congenital orthopaedic limp deformities in Corpus Hippocraticum
by Revelou, Maria-Triantafyllia and Eleftheriou, Anna and Fezoulidi, Georgia and Hatzikyriakou, Panayiotis and Raoulis, Vasileios and Tsoucalas, Gregory
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
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9. Full Text Associated anomalies in cases with esophageal atresia
by Stoll, Claude and Alembik, Yves and Dott, Beatrice and Roth, Marie‐Paule
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
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