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On the localization of the stretch reflex of intrinsic hand muscles in a patient with mirror movements.
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Mirror movements studied in a patient with Klippel-Feil syndrome.
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients.
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.
Immunological aspects of 22q11.2 deletion syndrome.
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
The histone methyltransferase MMSET regulates class switch recombination.
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Role of Chd7 in zebrafish: a model for CHARGE syndrome.
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.
Pathophysiology of mitochondrial volume homeostasis: potassium transport and permeability transition.
Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Autism spectrum disorders and epigenetics.
The DNA-binding domain of the Chd1 chromatin-remodelling enzyme contains SANT and SLIDE domains.
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
Aetiology and management of chylothorax in adults.
Etiology of chylothorax in 203 patients.
Early complications after dual chamber versus single chamber pacemaker implantation.
Chylothorax: indications for surgery.
The lipoprotein profile of chylous and nonchylous pleural effusions.
The absorption of fats studied in a child with chylothorax.
The management of chylothorax.
TREATMENT OF CHYLURIA AND CHYLOTHORAX WITH MEDIUM-CHAIN TRIGLYCERIDE.
Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax.
Net-targeted mutant mice develop a vascular phenotype and up-regulate egr-1.
Fatal bilateral chylothorax in mice lacking the integrin alpha9beta1.
Indications for surgery in tracheobronchial ruptures.
Hypercarbia during carbon dioxide gas insufflation for therapeutic laparoscopy: a note of caution.
Hazards of hydrogen peroxide.
Diffuse subcutaneous emphysema, pneumomediastinum, and pneumothorax after dental extraction.
A case of subcutaneous emphysema, pneumomediastinum and pneumoretroperitoneum associated with functional anorexia.
Massive spontaneous subcutaneous emphysema. Acute management with infraclavicular "blow holes".
Delayed radionecrosis of the larynx.
Complications in endoscopic intranasal ethmoidectomy: an update.
Cervical emphysema, pneumomediastinum, and pneumothorax following self-induced oral injury: report of four cases and review of the literature.
Preliminary experience of endoscopic submucosal tunnel dissection for upper gastrointestinal submucosal tumors.
Iatrogenic ruptures of the tracheobronchial tree.
Massive subcutaneous emphysema and severe hypercarbia in a patient during endoscopic transcervical parathyroidectomy using carbon dioxide insufflation.
Current assessment and management of spontaneous pneumomediastinum: experience in 24 adult patients.
Features of carcinoid heart disease identified by 2- and 3-dimensional echocardiography and cardiac MRI.
Echocardiographic and biochemical evaluation of the development and progression of carcinoid heart disease.
Development and characterization of a novel in vivo model of carcinoid syndrome.
Carcinoid tumors and syndrome.
Carcinoid heart disease.
Cancer of the heart: epidemiology and management of primary tumors and metastases.
A mouse model of carcinoid syndrome and heart disease.
Carcinoid heart disease.
Carcinoid heart disease.
Prognosis of carcinoid heart disease: analysis of 200 cases over two decades.
Carcinoid heart disease: relationship of circulating vasoactive substances to ultrasound-detectable cardiac abnormalities.
Prognostic indicators for carcinoid neuroendocrine tumors of the gastrointestinal tract.
Involvement of transforming growth factor-beta in the formation of fibrotic lesions in carcinoid heart disease.
Carcinoid heart disease. Correlation of high serotonin levels with valvular abnormalities detected by cardiac catheterization and echocardiography.
Long-term serotonin administration induces heart valve disease in rats.
A fifth mechanism of lightning injury.
A bolt from the blue: lightning strike to the head.
Neurologic and neurobehavioral effects of electric and lightning injuries.
Myths, miracles, and mirages.
MRI in lightning encephalopathy.
Mass casualties and triage at a sporting event.
Lightning strikes: nature of neurological damage in patients evaluated in hospital emergency departments.
Lightning safety guidelines.
Lightning injury: a review.
Guidelines for cardiopulmonary resuscitation and emergency cardiac care. Emergency Cardiac Care Committee and Subcommittees, American Heart Association. Part IV. Special resuscitation situations.
Safety in the presence of lightning.
Lightning stroke. Report of a case with recovery after cardiac massage and prolonged artificial respiration.
Injury from lightning strike while using mobile phone.
Lightning strike to the head: case report.
Emergent care of lightning and electrical injuries.
Unilateral, bilateral babinski's reflex
Electrical shock and lightning strike.