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483501 to 483600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hereditary angioedema with normal C1-INH (HAE type III).
Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families.
Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks.
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Linking DNA damage and neurodegeneration.
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.
DNA helicases, genomic instability, and human genetic disease.
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.
Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicases.
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
RecQ helicases: caretakers of the genome.
Osteitis Fibrosa Cystica
Retained nuclei after cataract surgery.
Pseudoexfoliation, an environmental disease?
Exfoliation syndrome prevalence in the glaucoma population of South Louisiana.
Pseudoexfoliative fibrillopathy in the skin of patients with ocular pseudoexfoliation.
Pertussis toxin is superior to TLR ligands in enhancing pathogenic autoimmunity, targeted at a neo-self antigen, by triggering robust expansion of Th1 cells and their cytokine production.
Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?
Intraocular pressure status in 100 consecutive patients with exfoliation syndrome.
Complications in patients after intravitreal injection of bevacizumab.
Causes of childhood blindness in Sri Lanka: results from children attending six schools for the blind.
The basement membrane exfoliation syndrome.
Multiple developmental defects derived from impaired recruitment of ASC-2 to nuclear receptors in mice: implication for posterior lenticonus with cataract.
Integrins in lens development and disease.
Exfoliation syndrome in various ethnic populations.
Alport syndrome. A review of the ocular manifestations.
Prevalence of pseudoexfoliation of the lens in Finns, Lapps, Icelanders, Eskimos, and Russians.
CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.
The environment and the lens.
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.
Osteoarthropathy, Primary Hypertrophic
Oncogenesis of the lens in transgenic mice.
Fibrous Dysplasia, Monostotic
Optic Nerve Glioma
Sleep Disorders, Intrinsic
Sweat Gland Diseases
Lipodystrophy, Familial Partial
Gene expression-based classification as an independent predictor of clinical outcome in juvenile myelomonocytic leukemia.
Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome.
Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML.
Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells.
Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia.
Normal hematopoiesis and neurofibromin-deficient myeloproliferative disease require Erk.
Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium.
Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations.
Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia.
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options.
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.
Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice.
Juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia.
Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation.
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates.
Pediatric appendicitis score.
Laparoscopic management of Meckel's diverticulum in children.
Meckel's diverticulum: a review of 148 pediatric patients, with special reference to the pattern of bleeding and to mesodiverticular vascular bands.
Complications of Meckel's diverticula in adults.
Complications and diagnosis of Meckel's diverticulum in 776 patients.
Repressive and restrictive mesodermal interactions with gut endoderm: possible relation to Meckel's Diverticulum.
Gastrointestinal complications after renal transplantation.
Meckel's diverticulum. Investigation of 600 patients in Japanese literature.
A fifty year experience with Meckel's diverticulum.