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1. 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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2. Full Text VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement
by Carli, Diana, MD and Garagnani, Lorenzo, MD and Lando, Mario, MD and Fairplay, Tracy, PT and Bernasconi, Sergio, MD and Landi, Antonio, MD and Percesepe, Antonio, MD
The Journal of pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 3, pp. 458 - 462.e2
Pediatrics | Life Sciences & Biomedicine | Science & Technology | Facial Bones - abnormalities | Urogenital Abnormalities - epidemiology | Umbilical Arteries - abnormalities | Humans | Limb Deformities, Congenital - therapy | Male | Odontoid Process - abnormalities | Spine - abnormalities | Orthopedic Procedures | Female | Trachea - abnormalities | Neural Tube Defects - epidemiology | Sacrococcygeal Region - abnormalities | Linear Models | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Coccyx - abnormalities | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - therapy | Thumb - abnormalities | Fistula, Tracheoesophageal | Medical genetics | Index Medicus | Abridged Index Medicus
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3. Full Text Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
by Boissel, Sarah and Fallet-Bianco, Catherine and Chitayat, David and Kremer, Valérie and Nassif, Christina and Rypens, Françoise and Delrue, Marie-Ange and Dal Soglio, Dorothée and Oligny, Luc L and Patey, Natalie and Flori, Elisabeth and Cloutier, Mireille and Dyment, David and Campeau, Philippe and Karalis, Aspasia and Nizard, Sonia and Fraser, William D and Audibert, François and Lemyre, Emmanuelle and Rouleau, Guy A and Hamdan, Fadi F and Kibar, Zoha and Michaud, Jacques L
Genetics in medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
fetal anomalies | GREB1L | exome sequencing | birth defects | de novo mutations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Fetus - abnormalities | Limb Deformities, Congenital - genetics | Genomics | Humans | Fetus - pathology | Male | Stillbirth - genetics | Whole Exome Sequencing - methods | Kidney Diseases - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Adult | Female | Hydrocephalus - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Trachea - abnormalities | Kidney Diseases - congenital | Genotype | Esophagus - abnormalities | Anal Canal - abnormalities | Pregnancy | Phenotype | Kidney - abnormalities | Tracheoesophageal Fistula - genetics | Family | Mutation | Prenatal Diagnosis - methods | Urogenital Abnormalities - genetics | Index Medicus
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4. 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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5. Tracheobronchial branching abnormalities: Lobe-based classification scheme
by Chassagnon, Guillaume and Morel, Baptiste and Carpentier, Elodie and Le Pointe, Hubert Ducou and Sirinelli, Dominique
Radiographics, ISSN 0271-5333, 03/2016, Volume 36, Issue 2, pp. 358 - 373
Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Bronchoscopy | Respiration Disorders - etiology | Humans | Congenital Abnormalities - embryology | Lung - abnormalities | Abnormalities, Multiple - diagnostic imaging | Tomography, X-Ray Computed | Bronchi - embryology | Trachea - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Trachea - embryology | Abnormalities, Multiple - embryology | Bronchi - abnormalities | Thoracic Surgery, Video-Assisted | Lung - embryology | Abnormalities, Multiple - classification | Imaging, Three-Dimensional | Bronchi - diagnostic imaging | Congenital Abnormalities - classification | Trachea - abnormalities
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6. Full Text Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice
by Amirhassankhani, Sasan and Lloyd, Mark S
The Journal of craniofacial surgery, ISSN 1049-2275, 03/2018, Volume 29, Issue 2, pp. 372 - 375
Ear auricle | goldenhar syndrome | mandibulofacial dysostosis | Life Sciences & Biomedicine | Surgery | Science & Technology | Abnormalities, Multiple - pathology | Humans | Esophagus - abnormalities | Hearing Loss, Sensorineural | Mandibulofacial Dysostosis | Anal Canal - abnormalities | Spine - abnormalities | Ear, External - abnormalities | Branchial Region - abnormalities | Abnormalities, Multiple - therapy | Kidney - abnormalities | Heart Defects, Congenital | Abnormalities, Multiple - diagnosis | Anus, Imperforate | Thumb - abnormalities | Goldenhar Syndrome | Limb Deformities, Congenital | Trachea - abnormalities | Dentistry
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7. 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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8. Congenital bronchial abnormalities revisited
by Ghaye, Benoit and Szapiro, David and Fanchamps, Jean-Marc and Dondelinger, Robert F
Radiographics, ISSN 0271-5333, 2001, Volume 21, Issue 1, pp. 105 - 119
Bronchi, CT, 671.12115 | Bronchi, abnormalities, 671.1499 | Bronchi, anatomy, 671.92 | Diagnostic Imaging | Adult | Bronchi - abnormalities | Humans | Trachea - abnormalities
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9. 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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10. Full Text Genetic factors in isolated and syndromic laryngeal cleft
by Li, Youjin and Rui, Xiaoqing and Li, Niu
Paediatric respiratory reviews, ISSN 1526-0542, 02/2020, Volume 33, pp. 24 - 27
Congenital anomaly | Genetics | Laryngotracheoesophageal cleft | Respiratory System | Pediatrics | Life Sciences & Biomedicine | Science & Technology | Limb Deformities, Congenital - genetics | Ear Diseases - genetics | Ear - abnormalities | Humans | Hypertelorism - genetics | Hypospadias - genetics | Arthrogryposis - genetics | Esophagus - abnormalities | Pallister-Hall Syndrome - genetics | Larynx - abnormalities | Intellectual Disability - genetics | Anal Canal - abnormalities | Congenital Abnormalities - diagnosis | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Kidney - abnormalities | CHARGE Syndrome - genetics | Hypopituitarism - genetics | Craniofacial Abnormalities - genetics | DiGeorge Syndrome - genetics | Trachea - abnormalities | Index Medicus
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11. Full Text Review of accessory tragus with highlights of its associated syndromes
by Bahrani, Bahar and Khachemoune, Amor
International journal of dermatology, ISSN 0011-9059, 12/2014, Volume 53, Issue 12, pp. 1442 - 1446
Life Sciences & Biomedicine | Dermatology | Science & Technology | Wolf-Hirschhorn Syndrome | Humans | Abnormalities, Multiple | Esophagus - abnormalities | Hearing Loss, Sensorineural | Mandibulofacial Dysostosis | Congenital Abnormalities - pathology | Anal Canal - abnormalities | Spine - abnormalities | Congenital Abnormalities - surgery | Kidney - abnormalities | Heart Defects, Congenital | Anus, Imperforate | Ear Cartilage - surgery | Thumb - abnormalities | Goldenhar Syndrome | Limb Deformities, Congenital | Ear Cartilage - abnormalities | Trachea - abnormalities | Birth defects | Genetic disorders | Index Medicus
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