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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. Metaplastic esophageal columnar epithelium without goblet cells shows DNA content abnormalities similar to goblet cell-containing epithelium
by Liu, Weitian and Hahn, Hejin and Odze, Robert D and Goyal, Raj K
The American journal of gastroenterology, ISSN 0002-9270, 2009, Volume 104, Issue 4, pp. 816 - 824
Epithelium - pathology | Cell Count | Humans | Epithelium - chemistry | Aneuploidy | Intestinal Mucosa - chemistry | Esophagus - chemistry | Precancerous Conditions - genetics | Goblet Cells - chemistry | Metaplasia | Esophagus - pathology | Barrett Esophagus - pathology | Flow Cytometry | Precancerous Conditions - chemistry | Biopsy | Precancerous Conditions - pathology | DNA, Neoplasm - analysis | Retrospective Studies | Goblet Cells - pathology | Barrett Esophagus - genetics | Intestinal Mucosa - pathology
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5. 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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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 Lymphocytic Esophagitis With CD4 T-cell–predominant Intraepithelial Lymphocytes and Primary Esophageal Motility Abnormalities: A Potential Novel Clinicopathologic Entity
by Xue, Yue and Suriawinata, Arief and Liu, Xiaoying and Li, Zhongze and Gabbard, Scott and Rothstein, Richard and Lacy, Brian and Lisovsky, Mikhail
The American journal of surgical pathology, ISSN 0147-5185, 11/2015, Volume 39, Issue 11, pp. 1558 - 1567
Nutcracker esophagus | Diffuse esophageal spasm | Increased intraepithelial lymphocytes | Lymphocytic esophagitis | Spongiosis | CD4-predominant | Pathology | Life Sciences & Biomedicine | Surgery | Science & Technology | Predictive Value of Tests | CD8-Positive T-Lymphocytes - pathology | Humans | Middle Aged | Male | CD4-Positive T-Lymphocytes - pathology | Esophagitis - pathology | CD4-Positive T-Lymphocytes - immunology | Esophageal Motility Disorders - etiology | Deglutition | Esophagus - physiopathology | Esophagitis - diagnosis | Adult | Female | Retrospective Studies | Biomarkers - analysis | Immunophenotyping | Esophagitis - complications | Esophagitis - immunology | Esophagus - pathology | Mucous Membrane - pathology | Mucous Membrane - immunology | Biopsy | Esophageal Motility Disorders - physiopathology | Esophagitis - physiopathology | Aged | Esophagus - immunology | CD8-Positive T-Lymphocytes - immunology | Index Medicus
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8. 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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9. Full Text High-resolution manometry in clinical practice: utilizing pressure topography to classify oesophageal motility abnormalities
by Pandolfino, J. E and Fox, M. R and Bredenoord, A. J and Kahrilas, P. J
Neurogastroenterology and motility, ISSN 1350-1925, 2009, Volume 21, Issue 8, pp. 796 - 806
high‐resolution manometry | distal oesophageal spasm | achalasia | nutcracker oesophagus | Nutcracker oesophagus | Achalasia | Distal oesophageal spasm | High-resolution manometry | Gastroenterology & Hepatology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Deglutition | Esophageal Motility Disorders - classification | Algorithms | Humans | Esophageal Motility Disorders - diagnosis | Pressure | Manometry - methods | Topographical drawing | Index Medicus | high-resolution manometry
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10. Full Text Classification of oesophageal motility abnormalities
by SPECHLER, S J and CASTELL, D O
Gut, ISSN 0017-5749, 07/2001, Volume 49, Issue 1, pp. 145 - 151
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Biological and medical sciences | Medical sciences | Other diseases. Semiology | Esophagus | Esophageal Motility Disorders - classification | Esophageal Spasm, Diffuse - physiopathology | Humans | Esophageal Achalasia - classification | Esophageal Motility Disorders - diagnosis | Esophageal Achalasia - physiopathology | Esophageal Spasm, Diffuse - classification | Esophageal Spasm, Diffuse - diagnosis | Scleroderma, Systemic - complications | Scleroderma, Systemic - physiopathology | Esophageal Motility Disorders - physiopathology | Adult | Esophageal Achalasia - diagnosis | Manometry - methods | Esophageal diseases | Motility | Diagnosis | Studies | Pain | Classification | Physiology | Dysphagia | Patients | Index Medicus | Abridged Index Medicus | Review
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