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1. Full Text Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report
by Kang, Jia and Mao, Meng and Zhang, Ye and Ai, Fang-Fang and Zhu, Lan
Medicine, ISSN 0025-7974, 11/2018, Volume 97, Issue 45, pp. e12822 - e12822
Rationale: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association... 
rare diseases | MEDICINE, GENERAL & INTERNAL | mullerian duct abnormality | ANOMALIES | distal vaginal atresia | VACTERL association | Abnormalities, Multiple - etiology | Anus, Imperforate - etiology | Solitary Kidney - congenital | Heart Defects, Congenital - etiology | Humans | Vagina - abnormalities | Uterus - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Spine - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - etiology | Rectal Fistula - congenital | Adolescent | Female | Heart Defects, Congenital - diagnosis | Fingers - abnormalities | Anus, Imperforate - diagnosis | Scoliosis - congenital | Trachea - abnormalities | Case studies | Care and treatment | Abnormalities | Diagnosis | Children | Genitourinary organs | Genital diseases, Female | Diseases | Index Medicus | Abridged 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
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 164, Issue 3, pp. 458 - 462.e2
Objective To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with... 
Pediatrics | MALFORMATIONS | THUMB | DYSPLASIA | PEDIATRICS | TETHERED SPINAL-CORD | CONGENITAL-ANOMALIES | VATER ASSOCIATION | DEFICIENCY | 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
Purpose: Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on... 
fetal anomalies | GREB1L | exome sequencing | birth defects | de novo mutations | ABNORMALITIES | HYDROCEPHALUS | MOUSE | NEURAL-TUBE | PRIMARY CILIARY DYSKINESIA | RUBINSTEIN-TAYBI SYNDROME | GENE | DISEASE | GENETICS & HEREDITY | SPECTRUM | PRENATAL-DIAGNOSIS | 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 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
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants... 
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | AND/OR TRACHEOESOPHAGEAL FISTULA | DESCRIPTIVE EPIDEMIOLOGY | PREVALENCE | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | MALFORMATIONS | BIRTH-DEFECTS PREVENTION | GENETICS & HEREDITY | EXPERIENCE | PRENATAL-DIAGNOSIS | 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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5. 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
Genetic variants causing loss of function in the synthesis of nicotinamide adenine dinucleotide were shown to cause congenital malformations that comprise the... 
CAUSES SPONDYLOCOSTAL DYSOSTOSIS | KYNURENINE | TRYPTOPHAN | MEDICINE, GENERAL & INTERNAL | DEFECTS | METABOLISM | VARIANTS | HUMANS | MUTATIONS | SIRTUINS | ASSOCIATION | 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 | NADPH | 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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6. Full Text Loss of cystic fibrosis transmembrane conductance regulator function produces abnormalities in tracheal development in neonatal pigs and young children
by Meyerholz, David K and Stoltz, David A and Namati, Eman and Ramachandran, Shyam and Pezzulo, Alejandro A and Smith, Amanda R and Rector, Michael V and Suter, Melissa J and Kao, Simon and McLennan, Geoffrey and Tearney, Guillermo J and Zabner, Joseph and McCray Jr, Paul B and Welsh, Michael J
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 11/2010, Volume 182, Issue 10, pp. 1251 - 1261
Rationale Although airway abnormalities are common in patients with cystic fibrosis (CF) it is unknown whether they are all secondary to postnatal infection... 
Cystic fibrosis | Smooth muscle | Mucin | Submucosal gland | Airway development | LUNG | smooth muscle | airway development | GENE | RESPIRATORY SYSTEM | cystic fibrosis | mucin | BRONCHIAL MUCOUS GLANDS | SUBMUCOSAL GLANDS | INFANTS | DISEASE | AIRWAY SMOOTH-MUSCLE | SECRETION | EXPRESSION | submucosal gland | CHLORIDE | CRITICAL CARE MEDICINE | Animals, Newborn | Trachea - growth & development | Cystic Fibrosis - physiopathology | Humans | Cystic Fibrosis - pathology | Child, Preschool | Cystic Fibrosis Transmembrane Conductance Regulator - physiology | Infant | Tomography, X-Ray Computed | Cystic Fibrosis - etiology | Respiratory Mucosa - pathology | Trachea - pathology | Animals | Microarray Analysis | Swine | Muscle, Smooth - physiopathology | Respiratory Mucosa - physiopathology | Retrospective Studies | Trachea - physiopathology | Muscle, Smooth - pathology | Index Medicus | Abridged Index Medicus | C. Cystic Fibrosis
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7. Full Text Targeting metabolic abnormalities to reverse fibrosis in iatrogenic laryngotracheal stenosis
by Murphy, Michael K and Motz, Kevin M and Ding, Dacheng and Yin, Linda and Duvvuri, Madhavi and Feeley, Michael and Hillel, Alexander T
The Laryngoscope, ISSN 0023-852X, 02/2018, Volume 128, Issue 2, pp. E59 - E67
Objective: Management of laryngotracheal stenosis (LTS) remains primarily surgical, with a critical need to identify targets for adjuvant therapy.... 
Human | trachea | laryngotracheal stenosis | collagen | glutamine | stenosis | iatrogenic | larynx | fibroblasts | scar | fibrosis | metabolism | aerobic glycolysis | glutamine antagonism | metabolic inhibitor | MEDICINE, RESEARCH & EXPERIMENTAL | APOPTOSIS | CELLS | MANAGEMENT | 6-DIAZO-5-OXO-L-NORLEUCINE DON | OTORHINOLARYNGOLOGY | MICE | DIFFERENTIATION | Fibrosis - drug therapy | Gene Expression - drug effects | Tracheal Stenosis - surgery | Humans | Middle Aged | Laryngostenosis - metabolism | Male | Fibrosis - metabolism | Glycolysis - drug effects | Tracheal Stenosis - drug therapy | Young Adult | Cicatrix - metabolism | Collagen - drug effects | Adult | Antimetabolites, Antineoplastic - pharmacology | Diazooxonorleucine - pharmacology | Female | Cell Culture Techniques | Iatrogenic Disease | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Laryngostenosis - drug therapy | Tracheal Stenosis - metabolism | Collagen - metabolism | Cicatrix - drug therapy | Oxygen Consumption - drug effects | Fibroblasts - drug effects | Aged | Cell Proliferation - drug effects | Laryngostenosis - surgery | Glucose metabolism | Medical errors | Collagen | Genes | Fibrosis | Physiological aspects | Stenosis | Muscle proteins | Gene expression | Adenosine triphosphate | Glutamine | Fibroblasts | Phosphorylation | Metabolism | Index Medicus
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8. Full Text Association of Airway Abnormalities with 22q11.2 Deletion Syndrome
by Sacca, Rosalba and Zur, Karen B and Crowley, T. Blaine and Zackai, Elaine H and Valverde, Kathleen D and McDonald-McGinn, Donna M
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 2017, Volume 96, pp. 11 - 14
Abstract Introduction 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine,... 
Otolaryngology | Pediatrics | 22q11.2 deletion syndrome | Airway anomalies | Larynx | Polyhydramnios | Trachea | MICRODELETION | ANOMALIES | OTORHINOLARYNGOLOGY | PEDIATRICS | Chromosome Deletion | Prevalence | Comorbidity | Respiratory Tract Diseases - congenital | Humans | Child, Preschool | Hospitals, Pediatric | Infant | Male | Pregnancy | Young Adult | Chromosomes, Human, Pair 22 - genetics | DiGeorge Syndrome - complications | Respiratory Tract Diseases - complications | Respiratory Tract Diseases - epidemiology | Adolescent | Adult | Female | Retrospective Studies | Child | Philadelphia | Medical colleges | Heart | Medical records | Congenital heart disease | Genetic disorders | Heart diseases | Index Medicus
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9. Full Text Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
by Saisawat, Pawaree and Kohl, Stefan and Hilger, Alina C and Hwang, Daw-Yang and Yung Gee, Heon and Dworschak, Gabriel C and Tasic, Velibor and Pennimpede, Tracie and Natarajan, Sivakumar and Sperry, Ethan and Matassa, Danilo S and Stajić, Nataša and Bogdanovic, Radovan and de Blaauw, Ivo and Marcelis, Carlo L.M and Wijers, Charlotte H.W and Bartels, Enrika and Schmiedeke, Eberhard and Schmidt, Dominik and Märzheuser, Stefanie and Grasshoff-Derr, Sabine and Holland-Cunz, Stefan and Ludwig, Michael and Nöthen, Markus M and Draaken, Markus and Brosens, Erwin and Heij, Hugo and Tibboel, Dick and Herrmann, Bernhard G and Solomon, Benjamin D and de Klein, Annelies and van Rooij, Iris A.L.M and Esposito, Franca and Reutter, Heiko M and Hildebrandt, Friedhelm
Kidney International, ISSN 0085-2538, 06/2014, Volume 85, Issue 6, pp. 1310 - 1317
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most... 
genetics and development | ureteric bud | renal development | vesicoureteral reflux | renal agenesis | genetic renal disease | HETEROTAXY | UROLOGY & NEPHROLOGY | DISORDERS | KIDNEY | Limb Deformities, Congenital - genetics | Predictive Value of Tests | Vesico-Ureteral Reflux - genetics | Age Factors | Kidney - embryology | United States | Humans | Urogenital Abnormalities | Male | DNA Mutational Analysis - methods | Exosomes | Genetic Testing - methods | Spine - abnormalities | Heart Defects, Congenital - genetics | Kidney - metabolism | Gene Expression Regulation, Developmental | Female | HSP90 Heat-Shock Proteins - genetics | Trachea - abnormalities | Genetic Predisposition to Disease | Vesico-Ureteral Reflux - diagnosis | Europe | Risk Factors | Esophagus - abnormalities | Multiplex Polymerase Chain Reaction | Gestational Age | Anal Canal - abnormalities | Homozygote | Limb Deformities, Congenital - diagnosis | Animals | Kidney - abnormalities | Pedigree | HSP90 Heat-Shock Proteins - metabolism | Heart Defects, Congenital - diagnosis | High-Throughput Nucleotide Sequencing | Mice | Mutation | Index Medicus
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10. Full Text Complete VACTERL evaluation is needed in newborns with rectoperineal fistula
by Rollins, Michael D and Russell, Katie and Schall, Kathy and Zobell, Sarah and Castillo, Ramon F and Eldridge, Lesley and Scaife, Eric R and Barnhart, Douglas C
Journal of Pediatric Surgery, ISSN 0022-3468, 2014, Volume 49, Issue 1, pp. 95 - 98
Abstract Purpose Given that a rectoperineal fistula is developmentally the most mature lesion in the spectrum of anorectal malformations, it is not clear... 
Pediatrics | Surgery | Ectopic anus | Anorectal malformations | Rectoperineal fistula | Perineal fistula | SURGERY | MANAGEMENT | ANORECTAL-MALFORMATIONS | ANOMALIES | PEDIATRICS | Chromosome Disorders - epidemiology | Humans | Symptom Assessment | Perineum - abnormalities | Male | Tertiary Care Centers - statistics & numerical data | Spine - abnormalities | Cutaneous Fistula - etiology | Abnormalities, Multiple - epidemiology | Female | Retrospective Studies | Anus, Imperforate - diagnosis | Infant, Newborn | Databases, Factual | Trachea - abnormalities | Anus, Imperforate - complications | Rectal Fistula - etiology | Anorectal Malformations | Esophagus - abnormalities | Rectum - abnormalities | Anal Canal - abnormalities | Diagnostic Tests, Routine | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Infants (Newborn) | Fistula | Index Medicus
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11. Full Text Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants
by C. Mendelsohn and D. Lohnes and D. Decimo and T. Lufkin and M. LeMeur and P. Chambon and M. Mark
Development, ISSN 0950-1991, 10/1994, Volume 120, Issue 10, pp. 2749 - 2771
Compound null mutations of retinoic acid receptor (RAR) genes lead to lethality in utero or shortly after birth and to numerous developmental abnormalities. In... 
Heart | Functional redundancy | Ontogenesis | Genital tract | Retinoic receptor mutants | Mouse | Lung | Aortic arches | Neural crest | Trachea | Kidney | Genitalia - abnormalities | Heart Defects, Congenital - embryology | Kidney - embryology | Receptors, Retinoic Acid - physiology | Endocrine Glands - abnormalities | Lung - abnormalities | Trachea - embryology | Endocrine Glands - embryology | Abnormalities, Multiple - embryology | Genitalia - embryology | Animals | Kidney - abnormalities | Tretinoin - metabolism | Lung - embryology | Mice | Cardiovascular System - embryology | Morphogenesis - physiology | Mice, Mutant Strains - embryology | Trachea - abnormalities | Index Medicus | Life Sciences | Development Biology
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12. Full Text Phenotypic and genotypic aspects of Townes-Brock syndrome: Case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
by Liberalesso, Paulo Breno Noronha and Cordeiro, Mara L and Karuta, Simone Carreiro Vieira and Koladicz, Karyn Regina Jordão and Nitsche, Anderson and Zeigelboim, Bianca Simone and Raskin, Salmo and Rauchman, Michael
BMC Medical Genetics, ISSN 1471-2350, 11/2017, Volume 18, Issue 1, pp. 125 - 125
Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis... 
Townes-Brock syndrome | Case report | Pediatric | Sall1 mutation | DEFECTS | GENES | EAR | GENETICS & HEREDITY | KIDNEY DEVELOPMENT | FATE | EXPRESSION | Diagnosis, Differential | Genetic Predisposition to Disease - genetics | Humans | Child, Preschool | Genotype | Male | Hearing Loss, Sensorineural - genetics | Codon, Nonsense | Transcription Factors - genetics | Esophagus - abnormalities | Anal Canal - abnormalities | Spine - abnormalities | Limb Deformities, Congenital - diagnosis | Hearing Loss, Sensorineural - diagnosis | Phenotype | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Brazil | Heart Defects, Congenital - diagnosis | Thumb - abnormalities | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Trachea - abnormalities | Genetic aspects | Congenital heart disease | Genetic disorders | Research | Diagnosis | Mutation (Biology) | Index Medicus
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13. Full Text Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis
by Tully, Hannah M and Dempsey, Jennifer C and Ishak, Gisele E and Adam, Margaret P and Curry, Cynthia J.R and Sanchez‐Lara, Pedro and Hunter, Alasdair and Gripp, Karen W and Allanson, Judith and Cunniff, Christopher and Glass, Ian and Millen, Kathleen J and Doherty, Daniel and Dobyns, William B
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2393 - 2406
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently... 
congenital triangular alopecia | aventriculy | VACTERL | holoprosencephaly | developmental field defect | rhombencephalosynapsis | Gómez‐López‐Hernández syndrome | Developmental field defect | Aventriculy | Rhombencephalosynapsis | Gómez-López-Hernández syndrome | Congenital triangular alopecia | Holoprosencephaly | DEFECTS | FUSION | HYDROCEPHALUS | ANOMALIES | AUTOSOMAL RECESSIVE INHERITANCE | BLASTOGENESIS | Gomez-Lopez-Hernandez syndrome | GENETICS & HEREDITY | MALFORMATION | ASSOCIATION | Abnormalities, Multiple - pathology | Kidney - pathology | Growth Disorders - pathology | Humans | Child, Preschool | Infant | Male | Neurocutaneous Syndromes - pathology | Cerebellum - abnormalities | Spine - abnormalities | Young Adult | Cerebellar Diseases - pathology | Adult | Craniofacial Abnormalities - pathology | Female | Spine - pathology | Anal Canal - pathology | Child | Infant, Newborn | Trachea - abnormalities | Rhombencephalon - abnormalities | Heart Defects, Congenital - pathology | Holoprosencephaly - pathology | Esophagus - abnormalities | Alopecia - pathology | Cerebellum - pathology | Anal Canal - abnormalities | Trachea - pathology | Esophagus - pathology | Phenotype | Kidney - abnormalities | Adolescent | Limb Deformities, Congenital - pathology | Rhombencephalon - pathology | Index Medicus | Developmental Field Defect | Congenital Triangular Alopecia
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