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Mostrando 81 - 100 Resultados de 3,173 Para Buscar '"ALMS"', tiempo de consulta: 0.21s Limitar resultados
  1. 81
    “…Using a phantom model, we tested whether ALMS could detect two points within a landmark following movement of the ultrasonographic probe. …”
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    Reliability and validity of ultrasonographic automated length measurement system for assessing talofibular anterior instability in acute lateral ankle sprain
  2. 82
    “…Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. …”
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    Consensus clinical management guidelines for Alström syndrome
  3. 83
    “…SWE and US represent promising tools to accurately evaluate early liver fibrosis and steatosis in adults and children with ALMS during follow-up. We described a new pathogenic variant of exon 8 in ALMS1. …”
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    Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome
  4. 84
    por Chen, Cuie, Yamashita, Yukiko M
    Publicado 2020
    “…Alms1a interacts with Sak/Plk4, a critical regulator of centriole duplication, more strongly at the GSC mother centrosome, further supporting Alms1a’s unique role in GSCs. …”
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    Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis
  5. 85
    “…PURPOSE: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. …”
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    Ocular evaluation and genetic test for an early Alström Syndrome diagnosis
  6. 86
    “…OBJECTIVES: Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. …”
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    Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy
  7. 87
    por Xu, Xu, Volcotrub, Egor, Ten, Svetlana B
    Publicado 2022
    “…In group 3, Genetic analysis was negative in 12 patients, 1 gene was in 19 cases (KSR2 in 3, PCSK1 in 4, POMC in 2, others in 1: BBS 17(KZTFL1), BBS9, BBS21 (C8orf37), BBC20(IFT172), MCR4, MRAP2, PLXNA4, POMC, INPP5E, UCP3. | 2 genes in 25 cases: (BBS1, NTRK2), (BBS4, RAI1), (BBS4, PLXNA3) (BBS7, NTRK2), (BBS2, BBS9), (BBS9, MCR4),(BBS9, ADCY3), (BBS9, ALMS1), (BBS10, ALMS1), (BBS10, BBS22 (IFT74)), (BBS13 (MKS1), PCKS1), (BBS14 (CEP290), PCSK1), (BBS15 (WDPCP), PCSK1), (BBS18, POMC), (BBS20(IFT172), PCSK1), (BBS 22 (IFT74), SH2B1), (ALMS1,PCSK1), (ALMS1, BDNF), (SH2B1, NCOA1), (SH2B1, PCSK1), (SEMA3G, NTRK2), (SEMA3D, UCP3), (SIM1, NROB2), (KSR2, NTRK2), (MRAP2, RPGRIP1L). | 3 genes in 5 cases (BBS16 (SDCCAG8), BBS14 (CEP290), KIDINS220), (KSR2, ALMS1, PCNT), (KSR2, SEMA3G, NTRK2), (ALMS1, PCSK1, NCOA1), (BBS9, ALMS1, TRIM32)4 genes in 2 cases (BBS9, BBS11(TRIM32), ALMS1, POMC) and (BBS19 (IFT27), BBS 20 (IFT27), SEMA3B, PLXNA3). | 5 genes in 1 case (BBS12, BBS20 (IFT172), ALMS1, RPGRIP1L, SEMA3G). …”
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    LBSUN131 Leptin Level, BMI And Genetics In Early Onset Obesity
  8. 88
    “…BACKGROUND: Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by a mutation in the ALMS1 gene and characterised by childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes and extreme insulin resistance. …”
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    Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial
  9. 89
    “…When ALMs were combined together, accuracy improved to 82.4%. …”
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    Evaluating atypical language in autism using automated language measures
  10. 90
    “…METHODS: Patients underwent clinical evaluation, and were screened for variations in Alström syndrome 1 gene (ALMS1) using a genotyping microarray from Asper Ophthalmics and by direct sequencing of coding exons 8, 10, and 16 of ALMS1. …”
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    Molecular approach in the study of Alström syndrome: Analysis of ten Spanish families
  11. 91
    “…Bardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. …”
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    Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients
  12. 92
    “…Cavernous sinus angioleiomyoma (ALM) is extremely rare. Only three cases have been reported to be cavernous sinus ALM, and very few reports described characteristic findings for intracranial ALMs in detail. …”
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    Cavernous Sinus Angioleiomyoma: Case Report and Review of the Literature
  13. 93
    “…Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. …”
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    Alström syndrome: current perspectives
  14. 94
    “…Abdominal lymphovascular malformations (ALMs) are rare cystic masses that can present with nonspecific symptoms. …”
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    Inguinal prolapse of a retroperitoneal lymphovascular malformation
  15. 95
    por Kanitakis, Jean
    Publicado 2017
    “…Cutaneous angioleiomyomas (ALMs) (also known as vascular leiomyomas or angiomyomas) are unusual benign tumors of the skin deriving from the muscle layer of dermal blood vessels. …”
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    Angioleiomyoma of the Auricle: An Unusual Tumor on a Rare Location
  16. 96
    “…This strategy would still not suffice for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively. …”
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    Triple Vectors Expand AAV Transfer Capacity in the Retina
  17. 97
    “…Sarcopenia defined by rLMM and rLMS was associated with the risk of prevalence of MetS, whereas sarcopenia defined by aLMM and aLMS was not.…”
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    Relative low muscle mass and muscle strength is associated with the prevalence of metabolic syndrome in patients with type 2 diabetes
  18. 98
    “…In addition, this method can overcome current detection limits by enhancing MS sensitivity of targets, improving the chromatographic separation of sn-position glycerophospholipid regioisomers, facilitating structural characterization of ALMs by a specific MS/MS fragmentation signature, and providing versatile fluorescence detection of ALMs for cellular distribution. …”
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    Click chemistry-based enrichment strategy for tracing cellular fatty acid metabolism by LC-MS/MS
  19. 99
    “…DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. …”
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    Alstrom syndrome (OMIM 203800): a case report and literature review
  20. 100
    “…Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids. …”
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    Alström Syndrome: Genetics and Clinical Overview
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