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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 Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
by Smemo, Scott and Campos, Luciene C and Moskowitz, Ivan P and Krieger, José E and Pereira, Alexandre C and Nobrega, Marcelo A
Human molecular genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | Biological and medical sciences | Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Abnormalities, Multiple - metabolism | Heart Defects, Congenital - embryology | Heart - embryology | Humans | Molecular Sequence Data | Abnormalities, Multiple - embryology | Heart Defects, Congenital - genetics | Lower Extremity Deformities, Congenital - embryology | Base Sequence | Heart Septal Defects, Atrial - metabolism | Upper Extremity Deformities, Congenital - embryology | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Lower Extremity Deformities, Congenital - metabolism | Animals, Genetically Modified | Zebrafish | Upper Extremity Deformities, Congenital - metabolism | Heart Septal Defects, Atrial - embryology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Homozygote | Point Mutation | Animals | Enhancer Elements, Genetic | Heart Defects, Congenital - metabolism | Mice | Index Medicus | Neonates | Animal models | Enhancers | Transcription factors | genomics | Genetic engineering | Mutation | Bioinformatics | Heart diseases | Holt-Oram syndrome
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3. Full Text KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5
by Darwich, Rami and Li, Wenjuan and Yamak, Abir and Komati, Hiba and Andelfinger, Gregor and Sun, Kun and Nemer, Mona
Human molecular genetics, ISSN 0964-6906, 03/2017, Volume 26, Issue 5, pp. 942 - 954
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Heart Atria - pathology | Transcriptional Activation - genetics | Humans | Protein Domains - genetics | Heart Defects, Congenital - genetics | Kruppel-Like Transcription Factors - metabolism | Cell Cycle Proteins - genetics | Heart Septal Defects, Atrial - metabolism | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Ventricles - pathology | Repressor Proteins - metabolism | Disease Models, Animal | Lower Extremity Deformities, Congenital - metabolism | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Heart Defects, Congenital - pathology | Repressor Proteins - genetics | Upper Extremity Deformities, Congenital - metabolism | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Heart Atria - metabolism | Animals | Protein Interaction Maps - genetics | Protein Binding | Heterozygote | Heart Defects, Congenital - metabolism | Heart Ventricles - metabolism | Mice | Mutation | Kruppel-Like Transcription Factors - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Index Medicus
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4. Full Text Congenital heart diseases and their association with the variant distribution features on susceptibility genes
by Su, W and Zhu, P and Wang, R and Wu, Q and Wang, M and Zhang, X and Mei, L and Tang, J and Kumar, M and Wang, X and Su, L and Dong, N
Clinical genetics, ISSN 0009-9163, 03/2017, Volume 91, Issue 3, pp. 349 - 354
congenital heart disease | mutation | GATA4 | NKX2‐5 | TBX5 | gene variant | NKX2-5 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Tetralogy of Fallot - pathology | Genetic Predisposition to Disease | Heart Defects, Congenital - classification | Heart Septal Defects, Ventricular - genetics | Genetic Association Studies | Heart Septal Defects, Ventricular - pathology | Humans | Heart Defects, Congenital - pathology | GATA4 Transcription Factor - genetics | Upper Extremity Deformities, Congenital - pathology | Tetralogy of Fallot - genetics | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Homeobox Protein Nkx-2.5 - genetics | Mutation | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Analysis | Mortality | Genes | Genetic research | Amino acids | Genetic aspects | Congenital heart disease | Heart diseases | Diseases | Cardiovascular disease | Congenital diseases | Morbidity | Tetralogy of Fallot | TBX5 gene | Phenotypes | Exons | Infants | Coronary artery disease | Homeobox | Genetic variance | Children | Genetic factors | Ventricle | Health risk assessment | Index Medicus
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5. Full Text MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome
by Chiavacci, Elena and Daurizio, Romina and Guzzolino, Elena and Russo, Francesco and Baumgart, Mario and Groth, Marco and Mariani, Laura and Donofrio, Mara and Arisi, Ivan and Pellegrini, Marco and Cellerino, Alessandro and Cremisi, Federico and Pitto, Letizia
Scientific reports, ISSN 2045-2322, 12/2015, Volume 5, Issue 1, pp. 18240 - 18240
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Abnormalities, Multiple - pathology | Multigene Family | Genomics | Zebrafish - embryology | Heart Defects, Congenital - genetics | Upper Extremity Deformities, Congenital - therapy | RNA Interference | Animal Fins - embryology | Gene Expression Regulation, Developmental | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Genome-Wide Association Study | Embryonic Development - genetics | Heart Defects, Congenital - pathology | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Zebrafish - genetics | Heart Septal Defects, Atrial - therapy | Phenotype | Animals | Abnormalities, Multiple - therapy | Lower Extremity Deformities, Congenital - therapy | Heart Defects, Congenital - therapy | MicroRNAs - genetics | Animal Fins - pathology | Heart Septal Defects, Atrial - pathology | Genetic Therapy - methods | Lower Extremity Deformities, Congenital - pathology | Heart | TBX5 gene | miRNA | Gene expression | Embryos | Heart diseases | Defects | Holt-Oram syndrome | Index Medicus
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6. Full Text Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray
by Stipoljev, Feodora and Miric-Tesanic, Danka and Hafner, Tomislav and Barbalic, Maja and Logara, Monika and Lasan-Trcic, Ruzica and Vicic, Ana and Gjergja-Juraski, Romana
European journal of medical genetics, ISSN 1769-7212, 11/2017, Volume 60, Issue 11, pp. 589 - 594
Chromosome 20 deletion | Radial ray anomaly | ADNP | Microarray | Ventriculomegaly | SALL4 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Heart Septal Defects, Atrial - diagnostic imaging | Humans | Heart Septal Defects, Atrial - diagnosis | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnostic imaging | Adult | Female | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Chromosome Deletion | Shab Potassium Channels - genetics | Diagnosis, Differential | Abnormalities, Multiple - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnosis | Transcription Factors - genetics | Upper Extremity Deformities, Congenital - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Pregnancy | Upper Extremity Deformities, Congenital - diagnosis | Phenotype | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Upper Extremity Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 20 - genetics | Genetic research | Genetic aspects | Diagnostic imaging | Ultrasound imaging | Pregnant women | Genomics | Medical colleges | Medical genetics | Cytogenetics | Index Medicus
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7. Full Text Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
by Vanlerberghe, Clémence and Jourdain, Anne-Sophie and Ghoumid, Jamal and Frenois, Frédéric and Mezel, Aurélie and Vaksmann, Guy and Lenne, Bruno and Delobel, Bruno and Porchet, Nicole and Cormier-Daire, Valérie and Smol, Thomas and Escande, Fabienne and Manouvrier-Hanu, Sylvie and Petit, Florence
European journal of human genetics : EJHG, ISSN 1018-4813, 2018, Volume 27, Issue 3, pp. 360 - 368
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - pathology | Diagnosis, Differential | Humans | Heart Defects, Congenital - pathology | Infant | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Mutation | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Phenotypes | Diagnosis | Elbow | Genotypes | Defects | Holt-Oram syndrome | Index Medicus | Genetic counselling | Congenital heart defects | Disease genetics
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8. Full Text Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications
by Al-Qattan, Mohammad M and Abou Al-Shaar, Hussam
Gene, ISSN 0378-1119, 04/2015, Volume 560, Issue 2, pp. 129 - 136
Missense mutation | TBX5 | Pathogenesis | Holt–Oram syndrome | Holt-Oram syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Gene Duplication | Genetic Association Studies | Humans | Heart Defects, Congenital - pathology | Myocardium - pathology | Heart Conduction System - abnormalities | Upper Extremity Deformities, Congenital - pathology | Mutation, Missense | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Genes | Genetic aspects | Index Medicus
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9. Full Text Congenital limb deficiency in Japan: A cross-sectional nationwide survey on its epidemiology
by Mano, Hiroshi and Fujiwara, Sayaka and Takamura, Kazuyuki and Kitoh, Hiroshi and Takayama, Shinichiro and Ogata, Tsutomu and Hashimoto, Shuji and Haga, Nobuhiko
BMC musculoskeletal disorders, ISSN 1471-2474, 07/2018, Volume 19, Issue 1, pp. 262 - 262
Cross-sectional study | Nationwide survey | Birth prevalence | Congenital limb deficiency | Epidemiology | Life Sciences & Biomedicine | Orthopedics | Rheumatology | Science & Technology | Upper Extremity Deformities, Congenital - surgery | Japan - epidemiology | Age Distribution | Prevalence | Cross-Sectional Studies | Humans | Child, Preschool | Infant | Lower Extremity Deformities, Congenital - diagnosis | Male | Lower Extremity Deformities, Congenital - epidemiology | Upper Extremity Deformities, Congenital - diagnosis | Health Surveys | Time Factors | Sex Distribution | Female | Lower Extremity Deformities, Congenital - surgery | Upper Extremity Deformities, Congenital - epidemiology | Child | Infant, Newborn | Genetic aspects | Research | Analysis | Abnormalities | Extremities (Anatomy) | Prostheses | Limbs | Congenital diseases | Pancreatitis | Births | Patients | Defects | Confidence intervals | Sex ratio | Hospitals | Surgery | Cooperation | Response rates | Fingers & toes | Index Medicus
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10. Full Text Atrial septal defect type II and upper limb malformation in 40-year-old male as a manifestation of Holt-Oram syndrome
by Szymczyk, Ewa and Wejner-Mik, Paulina and Lipiec, Piotr and Michalski, Blazej and Kasprzak, Jaroslaw D
Cardiology journal, ISSN 1897-5593, 05/2019, Volume 26, Issue 3, pp. 302 - 303
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Predictive Value of Tests | Echocardiography, Transesophageal | Humans | Male | Echocardiography, Doppler, Color | Heart Septal Defects, Atrial - diagnosis | Heart Defects, Congenital - genetics | Upper Extremity Deformities, Congenital - therapy | Septal Occluder Device | Adult | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Echocardiography, Three-Dimensional | Lower Extremity Deformities, Congenital - diagnosis | Treatment Outcome | Upper Extremity Deformities, Congenital - genetics | Cardiac Catheterization - instrumentation | Upper Extremity Deformities, Congenital - diagnosis | Heart Septal Defects, Atrial - therapy | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Lower Extremity Deformities, Congenital - therapy | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - therapy
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11. Full Text High-throughput transcriptome analysis reveals potentially important relationships between lncRNAs and genes in broilers affected by Valgus-varus Deformity (Gallus gallus)
by Guo, Yaping and Tang, Hehe and Li, Zhuanjian and Zhang, Yanhua and Li, Donghua and Li, Wenting and Sun, Guirong and Kang, Xiangtao and Han, Ruili
Gene, ISSN 0378-1119, 06/2020, Volume 743, pp. 144511 - 144511
mRNA | Valgus-varus deformity | lncRNA | RNA-seq | Broiler | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Lower Extremity Deformities, Congenital - veterinary | Genetic Predisposition to Disease | RNA, Messenger - genetics | Gene Expression Profiling | Gene Regulatory Networks | Bone Malalignment - genetics | Case-Control Studies | Animals | Bone Malalignment - veterinary | High-Throughput Screening Assays | Chickens - genetics | Bone Development - genetics | Fibroblast Growth Factor 10 - genetics | Chickens - abnormalities | Lower Extremity Deformities, Congenital - genetics | RNA, Long Noncoding - metabolism | Lower Extremity - growth & development | Index Medicus
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