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Current Opinion in Neurobiology, ISSN 0959-4388, 2015, Volume 36, pp. 118 - 127
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2018, Volume 26, Issue 6, pp. 876 - 885
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A... 
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | KERATINOCYTE DIFFERENTIATION | DEFECTS | ANKYLOBLEPHARON | DISORDERS | POPLITEAL PTERYGIUM SYNDROME | P63 | GENETICS & HEREDITY | SPECTRUM | ECTODERMAL DYSPLASIAS | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases
Journal Article
Biochemical Journal, ISSN 0264-6021, 02/2014, Volume 457, Issue 3, pp. 441 - 449
To date, over 65 mutations in the gene encoding Cx43 (connexin43) have been linked to the autosomal-dominant disease ODDD (oculodentodigital dysplasia). A... 
Bladder | Mutation | Connexin43 (Cx43) | Disease | Oculodentodigital dysplasia | Gap junction | connexin43 (Cx43) | LIFE-CYCLE | MUTANT | disease | oculodentodigital dysplasia | BIOCHEMISTRY & MOLECULAR BIOLOGY | FUNCTIONAL-CHARACTERIZATION | CX43 | mutation | SMOOTH-MUSCLE | CONNEXIN43 | GAP-JUNCTIONS | INTERCELLULAR COMMUNICATION | bladder | gap junction | EXPRESSION | GJA1 MUTATIONS | Gap Junctions - metabolism | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Urinary Bladder, Neurogenic - etiology | Foot Deformities, Congenital - metabolism | Male | Syndactyly - pathology | Craniofacial Abnormalities - physiopathology | Urinary Bladder - pathology | Myosin Heavy Chains - metabolism | Muscular Diseases - etiology | Urinary Bladder, Neurogenic - physiopathology | Mice, Mutant Strains | Muscular Diseases - physiopathology | Foot Deformities, Congenital - physiopathology | Craniofacial Abnormalities - pathology | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Mutant Proteins - antagonists & inhibitors | Urinary Bladder - chemistry | Connexin 43 - genetics | Disease Models, Animal | Foot Deformities, Congenital - pathology | Connexin 43 - metabolism | Syndactyly - metabolism | Urinary Bladder - metabolism | Cells, Cultured | Cell Communication | Mutant Proteins - metabolism | Muscle, Smooth - metabolism | Muscle, Smooth - chemistry | Urinary Incontinence - etiology | Animals | Muscle Contraction | Eye Abnormalities - pathology | Muscle, Smooth - physiopathology | Tooth Abnormalities - pathology | Urinary Bladder - physiopathology | Eye Abnormalities - physiopathology | Connexin 43 - antagonists & inhibitors | Mice | Syndactyly - physiopathology | Muscle, Smooth - pathology | Amino Acid Substitution
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3150 - 3154
Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including... 
GJA1 | pulmonary stenosis | ventricular septal defect | Ventricular septal defect | Pulmonary stenosis | GAP-JUNCTION GENE | CONNEXIN43 | DISEASE | GENETICS & HEREDITY | PHENOTYPE | MICE | MODEL | PREVALENCE | GJA1 MUTATIONS | Tooth Abnormalities - physiopathology | Humans | Pulmonary Valve Stenosis - physiopathology | Foot Deformities, Congenital - genetics | Infant | Male | Fingers - physiopathology | Heart Septal Defects, Ventricular - physiopathology | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Tooth Abnormalities - complications | Foot Deformities, Congenital - physiopathology | Female | Foot Deformities, Congenital - complications | Fingers - abnormalities | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Infant, Newborn | Connexin 43 - genetics | Syndactyly - complications | Heart Septal Defects, Ventricular - complications | Heart Septal Defects, Ventricular - genetics | Pulmonary Valve Stenosis - genetics | Tooth Abnormalities - genetics | Pulmonary Valve Stenosis - complications | Eye Abnormalities - genetics | Heart Defects, Congenital - complications | Eye Abnormalities - physiopathology | Heart Defects, Congenital - physiopathology | Mutation | Syndactyly - physiopathology | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Congenital heart disease | Genetic disorders | Heart | Hypoplasia | Oculodentodigital dysplasia | Gap junctions | Stenosis | Septum | Connexin 43 | Patients | Organogenesis | Missense mutation | Nose | Syndactyly | Ventricle
Journal Article
Journal of Reconstructive Microsurgery, ISSN 0743-684X, 2014, Volume 30, Issue 4, pp. 235 - 240
Microsurgical nerve lengthening was performed in two siblings presenting a popliteal pterigium syndrome with a knee flexion contracture of 80 degrees. After... 
internal neurolysis | congenital | microsurgery | nerve contracture | popliteal webbing | SURGERY | VAN | PALSY | INJURY | MUTATIONS | WOUDE SYNDROME | Nerve Expansion - methods | Gait | Humans | Knee Joint - physiopathology | Nerve Block | Cleft Palate - surgery | Syndactyly - rehabilitation | Lower Extremity Deformities, Congenital - rehabilitation | Male | Urogenital Abnormalities - rehabilitation | Eye Abnormalities - rehabilitation | Fingers - physiopathology | Cleft Palate - rehabilitation | Knee Joint - surgery | Postoperative Complications - rehabilitation | Splints | Time Factors | Fingers - surgery | Syndactyly - surgery | Contracture - rehabilitation | Range of Motion, Articular | Microsurgery | Urogenital Abnormalities - physiopathology | Fingers - abnormalities | Child | Cleft Lip - surgery | Contracture - physiopathology | Siblings | Reoperation | Postoperative Complications - physiopathology | Reconstructive Surgical Procedures - methods | Abnormalities, Multiple | Postoperative Complications - surgery | Treatment Outcome | Cleft Palate - physiopathology | Cleft Lip - rehabilitation | Eye Abnormalities - surgery | Knee - innervation | Cleft Lip - physiopathology | Urogenital Abnormalities - surgery | Lower Extremity Deformities, Congenital - physiopathology | Knee Joint - abnormalities | Knee - surgery | Reconstructive Surgical Procedures - adverse effects | Eye Abnormalities - physiopathology | Lower Extremity Deformities, Congenital - surgery | Syndactyly - physiopathology | Contracture - surgery
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1586 - 1592
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous... 
Curry–Jones syndrome | gastrointestinal smooth muscle hamartomas | SMO | somatic mosaic mutations | SMO somatic mosaic mutations | ASYMMETRY | Curry-Jones syndrome | BASAL-CELL CARCINOMA | GENETICS & HEREDITY | RESISTANCE | MUTATIONS | SKIN | MEDULLOBLASTOMA | Skin Abnormalities - surgery | Gastrointestinal Diseases - physiopathology | Craniosynostoses - complications | Skin Abnormalities - complications | Humans | Infant | Craniofacial Abnormalities - surgery | Craniofacial Abnormalities - physiopathology | Craniosynostoses - physiopathology | Smoothened Receptor - genetics | Syndactyly - surgery | Female | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Skin Abnormalities - physiopathology | Syndactyly - complications | Intestines - abnormalities | Craniosynostoses - genetics | Intestines - surgery | Gastrointestinal Diseases - complications | Gastrointestinal Diseases - genetics | Gastrointestinal Diseases - surgery | Skin Abnormalities - genetics | Intestines - physiopathology | Mutation | Syndactyly - physiopathology | Syndactyly - genetics | Gastrointestinal diseases | Gastrointestinal tract diseases | Craniosynostosis | Exploration | Smooth muscle | Hemorrhage | Bleeding | Morbidity | Corpus callosum | Nodules | Distension | Abdomen | Intestine | Skin | Children | Ganglion cells | Pancreas | Neoplasia | Original
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2011, Volume 108, Issue 37, pp. 15432 - 15437
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2011, Volume 17, Issue 12, pp. 1657 - 1662
Journal Article
Heart Rhythm, ISSN 1547-5271, 2007, Volume 4, Issue 5, pp. 638 - 647
Background Timothy syndrome is a multisystem disorder associated with QT interval prolongation and ventricular cardiac arrhythmias. The syndrome has been... 
Cardiovascular | Inherited syndrome | Long QT syndrome | Syndactyly | Sudden cardiac death | Arrhythmias | Ion channelopathy | Left ventricle | CELLS | CARDIAC & CARDIOVASCULAR SYSTEMS | long QT syndrome | left ventricle | syndactyly | ion channelopathy | sudden cardiac death | LONG-QT SYNDROME | ENDOCARDIAL MYOCYTES | ELECTRICAL HETEROGENEITY | REPOLARIZATION | HEART | inherited syndrome | arrhythmias | TORSADE-DE-POINTES | CANINE VENTRICLE | TRANSMURAL DISPERSION | CONTRIBUTES | Heart Ventricles - cytology | Anti-Arrhythmia Agents - pharmacology | Tachycardia, Ventricular - chemically induced | Long QT Syndrome - physiopathology | Ranolazine | Pericardium - physiopathology | Ventricular Premature Complexes - physiopathology | 3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester - adverse effects | Electrocardiography | Long QT Syndrome - drug therapy | Torsades de Pointes - drug therapy | Torsades de Pointes - physiopathology | Endocardium - cytology | Action Potentials - drug effects | Disease Models, Animal | Acetanilides - pharmacology | Long QT Syndrome - etiology | Tachycardia, Ventricular - drug therapy | Enzyme Inhibitors - pharmacology | Pericardium - drug effects | Torsades de Pointes - chemically induced | Piperazines - pharmacology | Pericardium - cytology | Ventricular Premature Complexes - chemically induced | Endocardium - physiopathology | Patch-Clamp Techniques | Tachycardia, Ventricular - physiopathology | Animals | Myocytes, Cardiac - drug effects | Analysis of Variance | Heart Ventricles - physiopathology | Ventricular Premature Complexes - drug therapy | Dogs | Calcium Channel Agonists - adverse effects | Endocardium - drug effects | Heart Ventricles - drug effects
Journal Article
Circulation Research, ISSN 0009-7330, 07/2011, Volume 109, Issue 3, pp. 255 - 261
Journal Article