These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

95 related articles for article (PubMed ID: 21332471)

  • 1. First HPSE2 missense mutation in urofacial syndrome.
    Mahmood S; Beetz C; Tahir MM; Imran M; Mumtaz R; Bassmann I; Jahic A; Malik M; Nürnberg G; Hassan SA; Rana S; Nürnberg P; Hübner CA
    Clin Genet; 2012 Jan; 81(1):88-92. PubMed ID: 21332471
    [TBL] [Abstract][Full Text] [Related]  

  • 2. HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.
    Bulum B; Özçakar ZB; Duman D; Cengiz FB; Kavaz A; Burgu B; Baskın E; Çakar N; Soygür T; Ekim M; Tekin M; Yalçınkaya F
    Nephron; 2015; 130(1):54-8. PubMed ID: 25924634
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
    Pang J; Zhang S; Yang P; Hawkins-Lee B; Zhong J; Zhang Y; Ochoa B; Agundez JA; Voelckel MA; Fisher RB; Gu W; Xiong WC; Mei L; She JX; Wang CY
    Am J Hum Genet; 2010 Jun; 86(6):957-62. PubMed ID: 20560209
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in HPSE2 cause urofacial syndrome.
    Daly SB; Urquhart JE; Hilton E; McKenzie EA; Kammerer RA; Lewis M; Kerr B; Stuart H; Donnai D; Long DA; Burgu B; Aydogdu O; Derbent M; Garcia-Minaur S; Reardon W; Gener B; Shalev S; Smith R; Woolf AS; Black GC; Newman WG
    Am J Hum Genet; 2010 Jun; 86(6):963-9. PubMed ID: 20560210
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
    Al Badr W; Al Bader S; Otto E; Hildebrandt F; Ackley T; Peng W; Xu J; Li J; Owens KM; Bloom D; Innis JW
    J Pediatr Urol; 2011 Oct; 7(5):569-73. PubMed ID: 21450525
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and genetic characteristics for the Urofacial Syndrome (UFS).
    Tu Y; Yang P; Yang J; Xu Y; Xiong F; Yu Q; Gu W; Pond D; Mendelsohn N; Lachmeijer GA; Zhang S; Wang CY
    Int J Clin Exp Pathol; 2014; 7(5):1842-8. PubMed ID: 24966895
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Urinary tract effects of HPSE2 mutations.
    Stuart HM; Roberts NA; Hilton EN; McKenzie EA; Daly SB; Hadfield KD; Rahal JS; Gardiner NJ; Tanley SW; Lewis MA; Sites E; Angle B; Alves C; Lourenço T; Rodrigues M; Calado A; Amado M; Guerreiro N; Serras I; Beetz C; Varga RE; Silay MS; Darlow JM; Dobson MG; Barton DE; Hunziker M; Puri P; Feather SA; Goodship JA; Goodship TH; Lambert HJ; Cordell HJ; ; Saggar A; Kinali M; ; Lorenz C; Moeller K; Schaefer F; Bayazit AK; Weber S; Newman WG; Woolf AS
    J Am Soc Nephrol; 2015 Apr; 26(4):797-804. PubMed ID: 25145936
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.
    Wang CY; Davoodi-Semiromi A; Shi JD; Yang P; Huang YQ; Agundez JA; Moran JM; Ochoa B; Hawkins-Lee B; She JX
    Am J Med Genet A; 2003 May; 119A(1):9-14. PubMed ID: 12707951
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A mouse model of urofacial syndrome with dysfunctional urination.
    Guo C; Kaneko S; Sun Y; Huang Y; Vlodavsky I; Li X; Li ZR; Li X
    Hum Mol Genet; 2015 Apr; 24(7):1991-9. PubMed ID: 25510506
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
    Roberts NA; Hilton EN; Lopes FM; Singh S; Randles MJ; Gardiner NJ; Chopra K; Coletta R; Bajwa Z; Hall RJ; Yue WW; Schaefer F; Weber S; Henriksson R; Stuart HM; Hedman H; Newman WG; Woolf AS
    Kidney Int; 2019 May; 95(5):1138-1152. PubMed ID: 30885509
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.
    Manak I; Gurney AM; McCloskey KD; Woolf AS; Roberts NA
    Neurourol Urodyn; 2020 Sep; 39(7):1930-1938. PubMed ID: 32609936
    [TBL] [Abstract][Full Text] [Related]  

  • 12. LRIG2 mutations cause urofacial syndrome.
    Stuart HM; Roberts NA; Burgu B; Daly SB; Urquhart JE; Bhaskar S; Dickerson JE; Mermerkaya M; Silay MS; Lewis MA; Olondriz MB; Gener B; Beetz C; Varga RE; Gülpınar O; Süer E; Soygür T; Ozçakar ZB; Yalçınkaya F; Kavaz A; Bulum B; Gücük A; Yue WW; Erdogan F; Berry A; Hanley NA; McKenzie EA; Hilton EN; Woolf AS; Newman WG
    Am J Hum Genet; 2013 Feb; 92(2):259-64. PubMed ID: 23313374
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.
    Wang CY; Huang YQ; Shi JD; Marron MP; Ruan QG; Hawkins-Lee B; Ochoa B; She JX
    Am J Med Genet; 1999 Jun; 84(5):454-9. PubMed ID: 10360399
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb).
    Wang CY; Shi JD; Huang YQ; Cruz PE; Ochoa B; Hawkins-Lee B; Davoodi-Semiromi A; She JX
    Genomics; 1999 Aug; 60(1):12-9. PubMed ID: 10458906
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
    Edelheit O; Hanukoglu I; Gizewska M; Kandemir N; Tenenbaum-Rakover Y; Yurdakök M; Zajaczek S; Hanukoglu A
    Clin Endocrinol (Oxf); 2005 May; 62(5):547-53. PubMed ID: 15853823
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
    Cesur Baltacı HN; Taşdelen E; Topçu V; Eminoğlu FT; Karabulut HG
    J Pediatr Endocrinol Metab; 2021 May; 34(5):653-657. PubMed ID: 33647194
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.
    Roberts NA; Woolf AS
    Adv Exp Med Biol; 2020; 1221():807-819. PubMed ID: 32274739
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
    Kalay E; Li Y; Uzumcu A; Uyguner O; Collin RW; Caylan R; Ulubil-Emiroglu M; Kersten FF; Hafiz G; van Wijk E; Kayserili H; Rohmann E; Wagenstaller J; Hoefsloot LH; Strom TM; Nürnberg G; Baserer N; den Hollander AI; Cremers FP; Cremers CW; Becker C; Brunner HG; Nürnberg P; Karaguzel A; Basaran S; Kubisch C; Kremer H; Wollnik B
    Hum Mutat; 2006 Jul; 27(7):633-9. PubMed ID: 16752389
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q.
    Bisulli F; Tinuper P; Marini C; Avoni P; Carraro G; Nobile C
    Epileptic Disord; 2002 Sep; 4(3):183-7. PubMed ID: 12446220
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.