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Mostrando 2,141 - 2,160 Resultados de 20,093 Para Buscar '"recession"', tiempo de consulta: 0.83s Limitar resultados
  1. 2141
    “…METHODS: The current genetic study ascertained two consanguineous Pakistani families suffering from autosomal recessive intellectual developmental disorder-5 (MRT5). …”
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    Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
  2. 2142
    “…The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. …”
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    Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study
  3. 2143
    “…OBJECTIVE: The objective of this study was to clinically evaluate and compare the efficacy of platelet concentrate graft (PCG) with that of subepithelial connective tissue graft (SCTG) using a coronally advanced flap technique in the treatment of gingival recession. MATERIALS AND METHODS: Twelve patients with a total of 24 gingival recession defects were selected and randomly assigned either to experimental site-A (SCTG) or experimental site-B (PCG). …”
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    A comparative evaluation of subepithelial connective tissue graft (SCTG) versus platelet concentrate graft (PCG) in the treatment of gingival recession using coronally advanced flap technique: A 12-month study
  4. 2144
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    Bovine Exome Sequence Analysis and Targeted SNP Genotyping of Recessive Fertility Defects BH1, HH2, and HH3 Reveal a Putative Causative Mutation in SMC2 for HH3
  5. 2145
    “…Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. …”
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    Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
  6. 2146
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    A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition
  7. 2147
    “…DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. …”
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    Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
  8. 2148
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    Double Crush of L5 Spinal Nerve Root due to L4/5 Lateral Recess Stenosis and Bony Spur Formation of Lumbosacral Transitional Vertebra Pseudoarticulation: A Case Report and Review
  9. 2149
    “…BACKGROUND: Economic recessions carry an impact on population health and access to care; less is known on how health systems adapt to the conditions brought by a downturn. …”
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    How the ‘plates’ of a health system can shift, change and adjust during economic recessions: A qualitative interview study of public and private health providers in Brazil’s São Paulo and Maranhão states
  10. 2150
    “…BACKGROUND: Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. …”
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    Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
  11. 2151
    “…Biallelic alterations in latent transforming growth factor beta‐binding protein 4 gene (LTBP4) cause autosomal recessive type 1C cutis laxa (ARCL1C, MIM #613177). …”
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    First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C
  12. 2152
    por Li, Yubo, Cheng, Xiaokang, Chen, Bin
    Publicado 2023
    “…Few studies have compared the clinical efficacy of percutaneous transforaminal endoscopic decompression (PTED) and minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) in the treatment of lateral recess stenosis associated with DLS (LRS-DLS) in geriatric patients. …”
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    Comparison of 270-degree percutaneous transforaminal endoscopic decompression under local anesthesia and minimally invasive transforaminal lumbar interbody fusion in the treatment of geriatric lateral recess stenosis associated with degenerative lumbar spondylolisthesis
  13. 2153
    “…Instead, it extends proximally into the adjacent lateral recess, resulting in impingement along the fracture edge above the index foramen and, in some cases, even in the extraforaminal area. …”
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    Enhancing endoscopic foraminal decompression in adult isthmic spondylolisthesis: the potential influence of lateral recess isthmic spur and our case series of an innovative craniocaudal interlaminar approach via unilateral biportal endoscopic spinal surgery
  14. 2154
    “…Autosomal recessive cutis laxa type 3A is caused by mutations in ALDH18A1, a gene encoding the mitochondrial enzyme Δ(1)-pyrroline-5-carboxylate synthase (P5CS). …”
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    Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
  15. 2155
    “…Thus, by combining CMA and WES, we potentially uncover an autosomal-recessive disorder characterized by a severe cardiac phenotype caused by mutations in TMEM87B. …”
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    Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
  16. 2156
    “…We report a genome-editing strategy to correct compound heterozygous mutations, a common genotype in patients with recessive genetic disorders. Adeno-associated viral vector delivery of Cas9 and guide RNA induces allelic exchange and rescues the disease phenotype in mouse models of hereditary tyrosinemia type I and mucopolysaccharidosis type I. …”
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    Diseases caused by different mutations in the two alleles of a gene are treated in mice by Cas-9-induced allelic exchange.: Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice
  17. 2157
    “…In this report, we describe a case involving a 34-year-old woman who showed good treatment outcomes with long-term stability after multidisciplinary treatment for unilateral cleft lip and palate (CLP), maxillary hypoplasia, severe maxillary arch constriction, severe occlusal collapse, and gingival recession. A comprehensive treatment approach was developed with maximum consideration of strong scar constriction and gingival recession; it included minimum maxillary arch expansion, maxillary advancement by distraction osteogenesis using an internal distraction device, and mandibular setback using sagittal split ramus osteotomy. …”
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    Long-term stability after multidisciplinary treatment involving maxillary distraction osteogenesis, and sagittal split ramus osteotomy for unilateral cleft lip and palate with severe occlusal collapse and gingival recession: A case report
  18. 2158
    “…AIMS: This study was a single-arm trial to obtain preliminary data on the efficacy of collagen membranes impregnated with recombinant human fibroblast growth factor-2 (rhFGF-2) in the treatment of Miller's Class I and II gingival recessions. MATERIALS AND METHODS: Twenty-one individuals (34 sites) presenting with localized Miller's Class I and II gingival recessions were included in this study. …”
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    Efficacy of recombinant human fibroblast growth factor 2 impregnated absorbable collagen membrane in the treatment of Miller's Class I and II gingival recession defects Preliminary results from the first in human clinical trial
  19. 2159
    “…However, to the best of our knowledge, this particular X-linked recessive mutation has not been previously reported in KS. …”
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    A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review
  20. 2160
    “…This study examined the effect of using platelet-rich fibrin (PRF) on the success rate of acentric double pedicle graft in treating patients with Miller Class I and II recessions. METHODS: A total of 16 Miller Class I and II lesions were studied in 8 patients. …”
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    Clinical evaluation of the effect of acentric double pedicle graft with and without the use of platelet-rich fibrin (PRF) on root coverage outcomes in class I and II Miller root recessions: A randomized clinical trial
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