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Mostrando 121 - 140 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.20s Limitar resultados
  1. 121
    “…We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. …”
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    Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
  2. 122
    “…The absence of functional outer hair cells is a component of several forms of hereditary hearing impairment, including Usher syndrome, the most common cause of concurrent hearing and vision loss. …”
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    Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment
  3. 123
    “…Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. …”
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    Identification of a novel MYO7A mutation in Usher syndrome type 1
  4. 124
    “…Typhi possesses 14 fimbrial gene clusters including 12 chaperone-usher fimbriae (stg, sth, bcf, fim, saf, sef, sta, stb, stc, std, ste, and tcf). …”
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    Functional Analysis of the Chaperone-Usher Fimbrial Gene Clusters of Salmonella enterica serovar Typhi
  5. 125
    “…BACKGROUND: Research has demonstrated that persons with Usher syndrome type 1 (USH1) have significantly poorer physical and psychological health compared to a reference group. …”
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    Health, work, social trust, and financial situation in persons with Usher syndrome type 1
  6. 126
    “…Here, we describe the surgical management of FTMH in a young patient with genetically confirmed Usher syndrome, the most common form of syndromic RP. …”
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    Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
  7. 127
    por Bojar, Daniel
    Publicado 2019
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    Speaking to nature: a deep learning representational model of proteins ushers in protein linguistics
  8. 128
    “…Usher syndrome type I is a rare genetic autosomal recessive disease caused by mutations in specific genes that provide instructions for making proteins involved in normal hearing, vision, and balance. …”
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    Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan?
  9. 129
    por Zhang, Chenyue, Wang, Haiyong
    Publicado 2021
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    Therapeutic utility of Lung-MAP: ushering into an era of genomic and biomarker-driven clinical trials
  10. 130
    por von Pressentin, Klaus B.
    Publicado 2020
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    Editorial: Ushering in a new year and reaching out to the next generation of family doctors
  11. 131
    “…They broaden the spectrum of ADGRV1 in Usher syndrome. Findings on next generation sequencing guided rapid and accurate diagnosis, resulting in patient-tailored therapeutic intervention.…”
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    Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome
  12. 132
    por Rezaei, Leila, Ahmadyani, Rashed
    Publicado 2021
    “…Usher syndrome is a heterogeneous genetic disease that is the most common cause of hereditary blindness–deafness. …”
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    A Very Rare Association of Fuchs Heterochromic Uveitis and Ectropion Uvea in Usher Syndrome
  13. 133
    “…Usher syndrome (USH) is a rare autosomal recessive disease characterized by the combination of hearing loss, visual impairment due to retinitis pigmentosa, and in some cases vestibular dysfunctions. …”
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    Usher Syndrome Belongs to the Genetic Diseases Associated with Radiosensitivity: Influence of the ATM Protein Kinase
  14. 134
    “…Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). …”
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    The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
  15. 135
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    Muse cells: ushering in a new era of stem cell-based therapy for stroke
  16. 136
    “…Mutations in the USH2A gene are the most common cause of Usher syndrome. We report the genotype-phenotype correlation in 10 patients with Usher syndrome from Puerto Rico (PR). …”
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    A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series
  17. 137
    por Finkbeiner, Ann K
    Publicado 2010
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    The grand and bold thing: an extraordinary new map of the universe ushering in a new era of discovery
  18. 138
    “…Chaperone-Usher Pathway (CUP) pili are major adhesins in Gram-negative bacteria, mediating bacterial adherence to biotic and abiotic surfaces. …”
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    Architecture of the biofilm-associated archaic Chaperone-Usher pilus CupE from Pseudomonas aeruginosa
  19. 139
    “…This review considers research into the treatment of Usher syndrome, a deaf-blindness syndrome inherited in an autosomal recessive manner. …”
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    A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery
  20. 140
    por Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
    Publicado 2011
    “…BACKGROUND: Usher syndrome (USH) combines sensorineural deafness with blindness. …”
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    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
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