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7,167 Possible Causes for deletion

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  • Upper Respiratory Infection

    Added 119 SNOMEDCT codes and deleted 194 SNOMEDCT codes. Added 251 ICD10CM codes and deleted 252 ICD10CM codes.[] Value set Upper Respiratory Infection (2.16.840.1.113883.3.464.1003.102.12.1022): Deleted 4 ICD9CM codes (460, 465.0, 465.8, 465.9).[] Measure Section: QDM Data Elements Source of Change: Annual Update Value set Competing Conditions for Respiratory Conditions (2.16.840.1.113883.3.464.1003.102.12.1017): Deleted[]

  • Skin Infection

    The construction of infectious VZV recombinants that have deletions or targeted mutations of viral genes or their promoters and the evaluation of VZV mutants in T cell and[]

  • Osteoporosis

    Sanger sequencing showed 41bp deletion in splice region following exon 1 of WNT1 gene in homozygous state.[] Here we describe two new families with novel mutations, including one with a whole gene PLS3 deletion, and review the literature on 9 previously reported cases.[] Father also has history of backache and was carrier for the same deletion variant. The child was given 3 doses of zoledronate and did not have any further fractures.[]

  • Sunburn

    Flg promoter deletion and chromatin immunoprecipitation analysis showed that caudal type homeo box transcription factor 1 (Cdx1) was a key factor for Flg induction.[]

  • Endocrine Dysfunction

    Large mitochondrial DNA deletion in an infant with Addison disease . JIMD Rep. 3 , 5–9 (2012). 111. Ribes, A. et al .[] Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease . J. Inherit. Metab. Dis. 38 , 445–457 (2015). 15.[] Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy . J. Inherit. Metab. Dis. 21 , 173–174 (1998). 67.[]

  • Adrenal Insufficiency

    PCR in leucocytes and muscle was negative for mitochondrial DNA (mtDNA) deletions.[] […] large gene deletion or conversion were detected leading to the diagnosis of nonclassical 21-OHD.[] Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome.[]

  • Idiopathic Pulmonary Fibrosis

    Analytic Sensitivity 99% for inherited single nucleotide and small insertion/deletion variants for the nucleotides evaluated; 99% for multi-exon deletions and 98% for single[] Test Information Test Method Next Generation Sequencing (NGS) of the coding regions and intron-exon boundaries of the listed genes ; Deletion/Duplication: Dosage analysis[] […] exon deletions; 90% for multi-exon duplications and 75% for single exon duplications.Lower limit of detection for single nucleotide variants: 25% allele frequency ( 99% sensitivity[]

  • Viral Lower Respiratory Infection

    We then used a combination of three variant calling methods (GATK, Platypus, and SAMtools) and only kept SNVs and small insertion and deletions ( SI Appendix , Table S2 ).[]

  • Acromegaly

    The patient displayed loss of heterozygosity in the same CDKN1B 5'-UTR region at tissue level and the 5'UTR region containing the deleted sequence encompasses a GRE.[] 208 cases of gigantism internationally established a genetic etiology in 46% of the cases; 29% had aryl hydrocarbon receptor interacting protein ( AIP ) gene mutations or deletions[] Our results show that the identified novel heterozygous deletion in the CDKN1B 5'-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary[]

  • Mental Disorder

    Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous deletion, there remains a large variation in the development and progression of psychiatric[] In this study we investigated whether neonatal DNA methylation signatures in individuals with the 22q11.2 deletion associate with mental disorder later in life.[] Abstract Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder[]

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