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466501 to 466600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Off-label use of recombinant human bone morphogenetic protein-2 (rhBMP-2) for reconstruction of mandibular bone defects in humans.
headache, , nosebleed, bleeder from surgery, pulsatile tinnitus
The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease.
Lingual and buccal mandibular bone depressions: a review based on 583 cases from a world-wide literature survey, including 69 new cases from Japan.
CT analysis of the Stafne's bone defects of the mandible.
Cysts and cystic lesions of the mandible: clinical and radiologic-histopathologic review.
Richard C Larsen
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
Cystic lesions of the maxillomandibular region: MR imaging distinction of odontogenic keratocysts and ameloblastomas from other cysts.
Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.
A two-hit model for developmental defects in Gorlin syndrome.
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.
One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells.
Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
HPRT: gene structure, expression, and mutation.
Gallop Rhythm, what is the diagnosis for gallop rhythm
DNA excision-repair processes in human cells can eliminate the cytotoxic and mutagenic consequences of ultraviolet irradiation.
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
The biological significance of purine salvage.
Expression of a retrovirus encoding human HPRT in mice.
Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
Lesch-Nyhan disease and the basal ganglia.
Physiological roles for adenosine and adenosine 5'-triphosphate in the nervous system.
A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.
Erosion of dosage compensation impacts human iPSC disease modeling.
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
Expression of a bacterial gene in mammalian cells.
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
Ovarian stimulation and the risk of aneuploid conceptions.
Midtrimester abortion associated with septicaemia caused by Campylobacter jejuni.
Medical management of missed abortion and anembryonic pregnancy.
Exposure to polycyclic aromatic hydrocarbons and missed abortion in early pregnancy in a Chinese population.
Circulating levels of inhibin A, activin A and follistatin in missed and recurrent miscarriages.
Serum levels of polychlorinated biphenyls and some organochlorine insecticides in women with recent and former missed abortions.
Medical management of missed abortion: a randomized clinical trial.
Induction of labour by intra-amniotic injection of hypertonic glucose solution.
A morphological and immunological study of human placental bed biopsies in miscarriage.
Soluble FMS-like tyrosine kinase-1 (sFlt-1) and serum placental growth factor (PlGF) as biomarkers for ectopic pregnancy and missed abortion.
Expectant management of missed miscarriage.
Comparison of colour Doppler features and pathological findings in complicated early pregnancy.
Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies.
Early pregnancy failure--current management concepts.
Deficiency of decidual IL-10 in first trimester missed abortion: a lack of correlation with the decidual immune cell profile.
Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization.
Elevated day 3 serum follicle stimulating hormone and/or estradiol may predict fetal aneuploidy.
Trophoblastic oxidative stress in relation to temporal and regional differences in maternal placental blood flow in normal and abnormal early pregnancies.
Anterior thoracic hypoplasia: a separate entity from Poland syndrome.
Aesthetic improvements in Poland's syndrome treatment with omentum flap.
A case of ductal carcinoma in situ of breast with Poland syndrome.
Treatment of severe developmental asymmetry of the female breast.
Poland's syndrome revisited.
Imaging of chest wall disorders.
Familial liability to intrauterine vascular impairments.
Angelman Syndrome, Dry Cough, Dyspnea
Experience with Bio-Alcamid, a new soft tissue endoprosthesis.
Eight patients with multiple bilateral thoracic anomalies: a new syndrome or bilateral Poland's syndrome?
Bilateral Poland anomaly.
Bilateral Poland anomaly: does it exist?
Poland's deformity reconstructions with a customized, extrasoft silicone prosthesis.
Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology.
Poland anomaly in mother and daughter.
Poland syndrome with bilateral features: case description with review of the literature.
Anatomical, histologic, and genetic characteristics of congenital chest wall deformities.
Amniotic band syndrome.
Sonographic diagnosis of the amniotic band syndrome.
Single-stage correction of constriction ring syndrome.
Limb-body wall complex: II. Limb and spine defects.
In utero limb salvage: fetoscopic release of amniotic bands for threatened limb amputation.
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac.
Amniotic band syndrome.
Heterogeneity in Klippel-Feil syndrome: a new classification.
Amniotic band syndrome: reevaluation of its pathogenesis.
Amniotic band sequence: Streeter's hypothesis reexamined.
Klippel-Feil syndrome; a constellation of associated anomalies.
Limb deficiencies in newborn infants.
Imaging the craniocervical junction.
Epidemiologic analysis of maternal factors and amniotic band defects.
CONGENITAL FUSION OF THE CERVICAL VERTEBRAE.
Disorganisation: a model for 'early amnion rupture'?
Congenital transverse defects of limbs and digits ('intrauterine amputation').
Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms.
Inheritance of Duane's syndrome.
Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population.
Congenital mirror movements.
Implications of malformations not due to amniotic bands in the amniotic band sequence.
[The pterygium syndrome; status Bonnevie-Ullrich, dystrophia brevicollis congenita, Turner's syndrome and congenital arthromyodysplasia].
Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap.
Surgical experience in 130 pediatric patients with Chiari I malformations.
Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects.
Cough, Kerley Lines
The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion.
Limb body wall complex: I. Pathogenesis.