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4,990 Possible Causes for Blood, HD, Molecular, Nominal, Tissue, [Identifier], by, found, gene, genetics, IN, method, mutations, or

  • Barth Syndrome

    Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference[] Phosphokinome Analysis of Barth Syndrome Lymphoblasts Identify Novel Targets in the Pathophysiology of the Disease. Int. J. Mol. Sci. 2018 , 19 , 2026.[] In general, sensitivity for single, double, or triple exon CNVs is 70% and for CNVs of four exon size or larger is 95%, but may vary from gene-to-gene based on exon size,[] It should also be considered in the following scenarios: boys with idiopathic neutropenia (particularly where this is intermittent and unpredictable); those with unexplained[] Molecular Biology of the Cell 16: 5202–5214.[] Neutropenia - This refers to an abnormally low number of neutrophils (a type of white blood cell) in the blood.[] The molecular composition of cardiolipin was altered in all tissues from BTHS patients.[] Sorry, the page you requested was not found. UTC Time: March 28, 2019 @ 6:28 am[] In addition to frameshift mutations that cause tafazzin truncation and mutations affecting splice donor and acceptor sites, 28 missense mutations have been documented.[] There is the potential risk of release of identifying information, which will be minimized by the use of a secure web platform and de-identifying of any of your private information[]

    Missing: HD Nominal by or
  • Wolfram Syndrome

    METHODS: Four affected siblings and their healthy parents were studied.[] Metabolomics has potential to identify such markers.[] Here we review the data regarding the mechanisms and the mutations of WFS1 gene that relate to WS. 2010 John Wiley & Sons A/S.[] To our knowledge this is the first description of prenatal diagnosis for Wolfram syndrome, based on the molecular analysis of the WFS1 gene.[] The investigators monitor base-line C-peptide levels in participants’ blood.[] The deletions reached percentages as high as 85-90% in affected tissues such as the central nervous system of one patient, while in other tissues from the same patient and[] Louis, has found that these changes occur early in adulthood and even in young children with very mild symptoms.[] Genetic testing is required to confirm the diagnosis.[] CONCLUSIONS/SIGNIFICANCE: Our study increases the spectrum of WFS1 mutations with two novel variants.[] These usually begin as nominal or petite mal seizures and can progress over time to grand mal seizures.[]

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  • Wiskott Aldrich Syndrome

    METHODS: Patients received 5 daily subcutaneous IL-2 injections, every 2months, for three courses. A "3 3" dose escalation method was used.[] Newborns with other conditions are also identified if a severe T or B cell lymphopenia is present at birth.[] While RV-mediated gene therapy was associated with a high occurrence of leukaemia, results obtained in the first patients treated with LV-based HSC gene therapy indicate a[] A total of 6 male patients, from 6 independent families, were referred for the molecular diagnosis of WAS.[] Blood Cells Mol Dis. 2014 Dec;53(4):283-5. doi: 10.1016/j.bcmd.2014.03.002. Epub 2014 May 11.[] The difference in N-WASP expression between tumor tissue and adjacent normal renal tissue was examined.[] The requested URL /research-current.html was not found on this server.[] Four patients underwent molecular genetics analysis and Western blot studies; two of them showed unpublished mutations: a hemizygous splice site mutation in intron 8 (c.778[] AIM: In this case report, we present our experience about two cases diagnosed with a new mutation.[] Blood. 1993; 82 :2961–6. [ PubMed : 8219187 ] Notarangelo LD, Ochs HD.[]

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  • Severe Combined Immunodeficiency

    To address these issues, we developed a multiplex, droplet digital PCR (ddPCR) method for measuring absolute TREC amounts in one DBS punch.[] From August 2010 through October 2016, 32 patients with NBS-identified SCID and leaky SCID from California and other states were treated, and 42 patients with NBS-identified[] However, the gene-transfer technologies that are available at present have limited the success of gene therapy so far.[] DNA-PK has three subunits, the molecular mass of which varies among animal species ( Fig. 2 ).[] We speculate that the very few B cells that proliferate from transplanted cord blood cells produce gamma globulin.[] Molecular typing of the mumps viral RNA isolated from neural tissue indicated that the infection was acquired at the time of a mumps outbreak in England and Wales that occurred[] The requested URL was not found on this server. The link on the referring page seems to be wrong or outdated. Please inform the author of that page about the error.[] […] method in SCID patients of Turkish origin with previously undefined genetic aetiology.[] mutation in the proband's mother in family 2.[] SCID is the first nominated condition to be added to the core panel of disorders.[]

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  • Kallmann Syndrome

    METHODS: We analyzed the KAL1 gene using the PCR-direct sequencing method. The twins' mother was examined for the identified mutation.[] In this study, we identified a novel FGFR1 mutation (c.867G A; p.W289X) in a KS patient.[] The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined.[] In this study, for the first time, the molecular basis for the FGFR associated KS mutation (A168S) is elucidated using a variety of biophysical experiments, including multidimensional[] There were no paternal exclusions noted in red blood cell phenotypes encompassing seven separate red cell systems.[] KAL1 mRNA level was independent of the background liver status, whereas HCC tissues showed significantly lower KAL1 mRNA levels than corresponding noncancerous liver tissues[] Mutations in PROKR2 and PROK2, encoding prokineticin receptor-2 and prokineticin-2, have been found in heterozygous, homozygous, and compound heterozygous states.[] These are genetic diseases that can be transmitted to patients' offspring.[] CONCLUSION(S): Mutation analysis revealed that a missense mutation of KAL1 in two brothers with KS, while their mother was heterozygous for this missense mutation encoded[] Anorexia nervosa and very low BMI of any cause may cause hypothalamic dysfunction.[]

    Missing: Nominal by IN or
  • Congenital Neutropenia

    METHODS: Review of medical records. RESULTS: A 6-year-old female who was diagnosed with SCN presented with a cough and wheezing.[] Despite the fact that several causal genes have been identified, the genetic basis for 30% of cases remains unknown.[] gene.[] Idiopathic neutropenia is usually a relatively mild condition autoimmune neutropenia is most common in infants and young children.[] The results suggested that in many cases neutropenia and syndromic manifestations could not be assigned to the same molecular alteration.[] الصفحة 193 - Till, JE, The effect of differing demands for blood cell production on DNA synthesis by hemopoietic colony-forming cells of mice. ‏[] Medical and dental histories revealed numerous recurrent bacterial infections associated with oral and non-oral tissues.[] Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3.[] The pathophysiology of these distinct genetic variants of SCN is complex.[] Etzioni A, Ochs HD: The hyper IgM syndrome – an evolving story. Pediatr Res 2004;56:519–525.[]

    Missing: Nominal by or
  • Hemochromatosis

    Others 153 results of samples were compared with reference method (PCR_RFLP) and the accordance of the results evaluated by Fleiss' κ method.[] In addition, three novel missense mutations (L46W, D129N and Y230F) and one nonsense mutation (Y138X) were identified.[] To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia.[] We further performed molecular dynamics simulation for 40 ns to see the effect of GdmCl on the structural stability of HFE.[] Other blood banks make local adjustments. 16 of 22 responding blood banks accept hemochromatosis donors and five do not, and one answered partly yes.[] Hereditary hemochromatosis (HH) refers to several inherited disorders of iron metabolism leading to tissue iron overload.[] The requested URL /data/hgnc_data.php was not found on this server. Apache/2.2.15 (Red Hat) Server at Port 80[] Eur J Med Genet. 2016 Oct;59(10):532-9. doi: 10.1016/j.ejmg.2016.08.011. Epub 2016 Aug 31.[] Four patients were double heterozygous or compound heterozygous for the mutations mentioned above, and the patient with metabolic syndrome was heterozygous for a mutation[] Gehrke SG , Kulaksiz H , Herrmann T , Riedel HD , Bents K , Veltkamp C , Stremmel W .[]

    Missing: Nominal by IN or
  • Thrombocytosis

    Progression-free survival (PFS) and overall survival (OS) were analyzed with the Kaplan-Meier method and log-rank tests for univariate analyses.[] RESULTS: Nine case-control studies were identified. Study quality was judged to be high.[] It was identified during sequence analysis of the X inactivation centre, surrounding the XIST gene. [2] FTX contains several microRNAs within its introns. [3] It upregulates[] Molecular basis of thrombocytosis Haematologica May 2008 93: 646-648; doi: 10.3324/haematol.13194 The bone marrow of a normal individual produces 1 10 11 platelets per day[] […] per liter of blood.[] […] has been ascribed to activation of complement 3 (C3) of the alternative complement cascade which, along with immunoglobulin (Ig) G and IgM deposits, is observed in renal tissue[] The requested URL /Anomalies/ET.html was not found on this server.[] , Thrombopoietin/genetics Signal Transduction/drug effects Signal Transduction/genetics Sulfonamides/pharmacology Thrombocythemia, Essential/drug therapy Thrombocythemia,[] All cases were analysed for BCR-ABL1, JAK2 V617F and CALR exon 9 mutation and p-STAT5 expression.[] disease, or other lymphomas.[]

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  • Androgen Insensitivity Syndrome

    Molecular analysis of the AR gene was conducted using MSSCP (Multitemperature Single Strand Conformation Polymorphism) and sequencing methods.[] Androgen receptor gene mutations were identified in nine CAIS and five PAIS subjects. Two of the CAIS mutations in exon A resulted in frameshifts.[] Blood samples were collected, and the AR genes were analyzed using PCR and direct sequencing.[] This review focuses on the clinical features and molecular pathophysiology of AIS and explores the relationship of the molecular defects in the AR gene to their clinical expression[] A preoperative blood test was avoided in all girls who had a mouth brushing. None of the girls in this study had CAIS.[] MATERIALS AND METHODS: The authors present a case of CAIS in a 22-year-old female where the presence of testes, prostatic tissue and seminal vesicles was confirmed by ultrasonography[] The requested URL /gak_dl/guide11203565.pdf was not found on this server.[] AIM: In order to verify androgen-insensitivity syndrome (AIS) for three individuals and their mothers, genetic diagnosis was performed after genetic counseling.[] Approximately 50% of the identified mutations were novel, and have enriched the AR gene-mutation database.[] .); Grants HD-04466 and P30-HD-18968 (DNA, Histochemistry and Tissue Culture Cores) from the NICHD Center for Population Research; The Andrew W.[]

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  • Familial Mediterranean Fever

    Conclusion: The ARMS assay is a rapid, cost-effective, and accurate method for detecting three common mutations in familial Mediterranean fever.[] Such a comprehensive approach is useful for identifying causative mutations for multiple unrelated inheritable diseases.[] Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product.[] Herein we propose an updated classification scheme based on the molecular insights garnered over the past decade, supplanting a clinical classification that has served well[] DNA samples obtained 4 years apart, in buccal cells, laser dissected kidney tubular cells, and FACS-sorted CD3-positive or depleted mononucleated blood cells.[] When this process is complete, the body stops the inflammatory response to prevent damage to its own cells and tissues.[] We found a high frequency of carriers among Jews from the various ethnic groups.[] […] implications Am J Hum Genet 1999 65 : 88–97 Download references Author information Affiliations Institute of Human Genetics, Rambam Medical Center, Haifa, Isreal Ruth Gershoni-Baruch[] Conclusion: Contrary to the NLRP3 mutations described in cryopyrin-associated periodic syndrome, FMF-associated MEFV mutations do not lead to a constitutive activation of[] INTEGRATED MEDICAL GENETICS/GENERAL MEDICINE APPROACH TO FMF DIAGNOSIS AND MANAGEMENT: THE UCLA MODEL From the foregoing description, it should be evident that FMF, although nominally[]

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