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469901 to 470000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Loose anagen hair syndrome in black-haired Indian children.
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
A 3-year-old girl with thin hair.
[Loose anagen hair syndrome. Diagnostic use of the trichogram].
Short anagen syndrome in an African American woman.
Otitis Media, Tetanus, tachycardia
Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: an ultrastructural study.
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
A mouse model for medulloblastoma and basal cell nevus syndrome.
PTCH mutations: distribution and analyses.
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.
Location of gene for Gorlin syndrome.
Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.
Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9.
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome.
Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.
Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
Dependent Rubor post foot surgery
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine.
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
Sox2 and Pou2f1 interact to control lens and olfactory placode development.
Multiple roles of the eyes absent gene in Drosophila.
Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus.
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
The phosphatidylserine receptor has essential functions during embryogenesis but not in apoptotic cell removal.
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
SOX2 anophthalmia syndrome.
Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse.
Heterozygous mutations of OTX2 cause severe ocular malformations.
Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy.
A mouse model of the aniridia-Wilms tumor deletion syndrome.
Oscar H L Bing
Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
PAX6 mutations in aniridia.
Corneal development, limbal stem cell function, and corneal epithelial cell migration in the Pax6(+/-) mouse.
PAX6 mutations: genotype-phenotype correlations.
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
3' deletions cause aniridia by preventing PAX6 gene expression.
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.
PAX6 in sensory development.
The human PAX6 gene is mutated in two patients with aniridia.
Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans.
HYPERKALEMIC PARALYSIS (ADYNAMIA EPISODICA HEREDITARIA). REPORT OF FOUR CASES AND CLINICAL STUDIES.
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Familial myotonic periodic paralysis.
Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results.
Randomised study of cognitive effects of iron supplementation in non-anaemic iron-deficient adolescent girls.
Iron regulation and erythropoiesis.
Laboratory tests to determine the cause of hypokalemia and paralysis.
Iron overload in human disease.
Brain iron metabolism.
Hepcidin: from discovery to differential diagnosis.
Andrew M Poulos
Ferritin accumulation in dystrophic microglia is an early event in the development of Huntington's disease.
Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.
Iron misregulation in the brain: a primary cause of neurodegenerative disorders.
The ferroportin disease.
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency.
Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.
Hepcidin and disorders of iron metabolism.
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.
Regulation of iron acquisition and storage: consequences for iron-linked disorders.
Forging a field: the golden age of iron biology.
Adynamia episodica hereditaria: a disease clinically resembling familial periodic paralysis but characterized by increasing serum potassium during the paralytic attacks.
Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation.
Skeletal muscle channelopathies.
Disorders of iron metabolism.
Balancing acts: molecular control of mammalian iron metabolism.
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Selective depletion of NK cell activity in vivo and its effect on the growth of NK-sensitive and NK-resistant tumor cell variants.
Inverse radiation dose-rate effects on somatic and germ-line mutations and DNA damage rates.
Cyclophosphamide (Cy)-facilitated adoptive immunotherapy of a Cy-resistant tumour. Evidence that Cy permits the expression of adoptive T-cell mediated immunity by removing suppressor T cells rather than by reducing tumour burden.
Augmentation of organ-associated natural killer activity by biological response modifiers. Isolation and characterization of large granular lymphocytes from the liver.
hOGG1 recognizes oxidative damage using the comet assay with greater specificity than FPG or ENDOIII.
Cancer therapy with chemically modified enzymes. I. Antitumor properties of polyethylene glycol-asparaginase conjugates.
Multiple pathways of TWEAK-induced cell death.
Inhibition of glycolipid shedding rescues recognition of a CD1+ T cell lymphoma by natural killer T (NKT) cells.
The carboxy-terminal region of mammalian HSP90 is required for its dimerization and function in vivo.
Telomere length abnormalities in mammalian radiosensitive cells.
Fas ligand engagement of resident peritoneal macrophages in vivo induces apoptosis and the production of neutrophil chemotactic factors.