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Mostrando 161 - 180 Resultados de 3,173 Para Buscar '"ALMS"', tiempo de consulta: 0.21s Limitar resultados
  1. 161
    “…The use of WES detected a pathogenetic mutation in ALMS1, enabling the definitive diagnosis of Alström syndrome. …”
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    Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome
  2. 162
    “…We revealed that AHNAK2, PLIN4, HLA-B, ALK, CCDC92 and ALMS1 genes were specifically mutated in CRCICs followed by the validation of their functions. …”
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    Single-cell sequencing reveals CD133(+)CD44(−)-originating evolution and novel stemness related variants in human colorectal cancer
  3. 163
    “…Alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the ALMS1 gene. The disease's manifestations include ophthalmic problems, hearing loss, obesity, and cardiovascular disorders. …”
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    Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems
  4. 164
    Publicado 1992
    Tabla de Contenidos: “…Prosa : Gaude virgo salutata : (chant) (1:39) --Polyphonic song : Edi beo thu hevene quene (3:34) --Introit : Salve mater redemptoris/Salve lux langentium/Salve sine spina/Salve sancta parens (2:50) -- Motet : Lux polis refulgens/Lux et gloria (3:19) -- Kyrie : Kyria christifera (3:57) -- Gloria (2:59) -- Motet : Spiritus et alme/Gaude virgo salutata (1:49) -- Song : Miro genere (1:33) -- Gradual : Benedicta et venerabilis (3:13) -- Alleluia : Alme iam ad gaudia/Alme matris dei/Alleluya per te dei (3:06) -- Sequence : Missus Gabriel de celis (2:10) -- Prosa : Gaude virgo gratiosa : (chant) (1:57) -- Polyphonic song : Salve virgo virginum (2:35) -- Offertory : Felix namque : (chant) (1:44) -- Sanctus & Benedictus (1:40) -- Sequence/Song : Jesu Cristes milde moder (7:02) --Agnus dei : Virtute numinis (2:39) -- Communion : Beata viscera : (chant & song) (1:53) -- Rondellus : Flos regalis (3:08) -- Chant setting : Ite missa est (1:16) -- Hymn : Ave maris stella (3:35)…”
    CD Audiom
    An English Ladymass medieval chant and polyphony in honor of the Virgin Mary.
  5. 165
    “…Wearing shoes at times other than alms work does not show a protective effect against skin-penetrating helminths (OR(crude) 0.86; 95% CI 0.51–1.46). …”
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    Monks: A Population at Risk for Liver Fluke and Skin-Penetrating Helminths
  6. 166
    “…Patients with metastatic acral lentiginous melanoma (ALM) suffer worse outcomes relative to patients with other forms of cutaneous melanoma (CM), and do not benefit as well to approved melanoma therapies. …”
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    ERK Hyperactivation Serves as a Unified Mechanism of Escape in Intrinsic and Acquired CDK4/6 Inhibitor Resistance in Acral Lentiginous Melanoma
  7. 167
    “…The University of Hertfordshire approved the study (aLMS/SF/UH/02951). RESULTS: The final sample size was composed of 717 respondents. …”
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    Knowledge and Use of Over-the-counter Drugs in Italy: An Exploratory Survey-based Study in the General Population
  8. 168
    “…Genes such as INSR, AKT2, TBC1D4, AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, PLIN1, CIDEC, LIPE, PCYT1A, MC4R, LEP, POMC, SH2B1, RECQL2, RECQL3, ALMS1, PCNT, ZMPSTE24, PIK3R1, and POLD1 have been linked to H-SIRS. …”
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    Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management
  9. 169
    “…The DARC gene region in Arabs and Nubians was enriched for African ancestry, whereas the RAB3GAP1/LCT/MCM6 region in Oromo, the TAS2R gene family in Fulani, and the ALMS1/NAT8 in Turkana and Samburu were enriched for non-African ancestry. …”
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    Extensive Admixture and Selective Pressure Across the Sahel Belt
  10. 170
    “…METHODS: Hyperphagic mice lacking a functional Alms1 gene (Foz/Foz) and wild-type littermates were fed WD or standard chow for 12 weeks for NASH/fibrosis and for 24 weeks for HCC development. …”
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    Nonalcoholic Steatohepatitis and HCC in a Hyperphagic Mouse Accelerated by Western Diet
  11. 171
    “…MATERIALS AND METHODS: In Alms1-mutant mice (foz/foz) fed a 60% fat diet (HFD) for 12 weeks; we investigated hepatic and muscular ammonia detoxification efficiency. …”
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    Impact of L-ornithine L-aspartate on non-alcoholic steatohepatitis-associated hyperammonemia and muscle alterations
  12. 172
    por Sun, Lijun, Zhu, Yan, Wang, Hong
    Publicado 2014
    “…Three cases of intracranial angioleiomyoma (ALM) in our neurosurgery center are reported in detail. …”
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    Angioleiomyoma, a rare intracranial tumor: 3 case report and a literature review
  13. 173
    “…These included the Bristol Myers-Squibb (BMS), the American College of Rheumatology (ACR), the lupus nephritis assessment with rituximab (LUNAR ), the Aspreva Lupus Management Study (ALMS), and the Abatacept and Cyclophosphamide Combination Efficacy and Safety Study (ACCESS). …”
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    Clinical Outcomes Observed among Biopsy Proven Lupus Nephritis Patients Treated with Mycophenolate Mofetil as First-line Therapy
  14. 174
    “…In addition, we identified 18 individuals with biallelic mutations in one of 23 BBS or ALMS1 genes, including two individuals with known pathogenic variants and clinically confirmed BBS. …”
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    OR22-05 Rare Biallelic Variants in Obesity-Related Genes in the Madrid Pediatric Obesity Cohort
  15. 175
    “…Fourteen genes (11 of which were in the ‘haploinsufficient’ group) showed under-representation of missense variants. Six genes (SAMD11, ALMS1, WFS1, RP1L1, KCNV2, ADAMTS18) showed over-representation of missense variants. …”
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    Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes
  16. 176
    “…METHODS: Data from the Aspreva Lupus Management Study (ALMS) were analysed. Using multivariate analysis, we assessed the prognostic value of demographic, clinical, laboratory and histopathological features on the frequency of either complete remission (CR) or treatment failure (TF) during the maintenance phase. …”
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    Identification of clinical and serological factors during induction treatment of lupus nephritis that are associated with renal outcome
  17. 177
    “…We therefore used this agent to test whether selective PPAR‐δ activation can reverse hepatic lipotoxicity and NASH in an obese, dyslipidemic, and diabetic mouse model. From weaning, female Alms1 mutant (foz/foz) mice and wild‐type littermates were fed an atherogenic diet for 16 weeks; groups (n = 8‐12) were then randomized to receive MBX‐8025 (10 mg/kg) or vehicle (1% methylcellulose) by gavage for 8 weeks. …”
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    The selective peroxisome proliferator–activated receptor‐delta agonist seladelpar reverses nonalcoholic steatohepatitis pathology by abrogating lipotoxicity in diabetic obese mice
  18. 178
    “…Thirty-three likely pathogenic variants were identified in 18 genes (ABCC6, ALMS1, BBS1, BBS2, BBS12, CEP41, CEP290, IFT172, IFT27, MKKS, MYO7A, OTX2, PDZD7, PEX1, RPGRIP1, USH2A, VPS13B, and WDPCP). …”
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    Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
  19. 179
    “…Fibrosing steatohepatitis was established in Alms1 mutant (foz/foz) and C57BL/6J wildtype mice fed high‐fat/high‐cholesterol or methionine‐ and choline‐deficient diet. …”
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    Bone marrow‐derived macrophage contributes to fibrosing steatohepatitis through activating hepatic stellate cells
  20. 180
    “…In addition, we predict the potential of cardiac circRNAs to sponge miRNAs that have reported roles in heart disease. We found that circALMS1_6 has the highest potential to bind miR-133, a microRNA that can regulate cardiac remodeling. …”
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    Genomic analysis of circular RNAs in heart
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