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Journal Abstract Search

191 related items for PubMed ID: 20140736

  • 21. Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
    Khan AO, Bolz HJ.
    Ophthalmic Genet; 2016 Sep; 37(3):301-6. PubMed ID: 26885695
    [Abstract] [Full Text] [Related]

  • 22. Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.
    Ahmad F, Ali RH, Muhammad D, Nasir A, Umair M, Wakil SM, Ramzan K, Basit S, Ahmad W.
    Eur J Dermatol; 2016 Dec 01; 26(6):610-612. PubMed ID: 27456782
    [No Abstract] [Full Text] [Related]

  • 23. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
    Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.
    Nat Genet; 2001 Jan 01; 27(1):108-12. PubMed ID: 11138009
    [Abstract] [Full Text] [Related]

  • 24. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
    Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M.
    Invest Ophthalmol Vis Sci; 2005 Aug 01; 46(8):2726-35. PubMed ID: 16043844
    [Abstract] [Full Text] [Related]

  • 25. Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.
    Schauren JS, Torres ACMBG, de Almeida RC, Santos PSC, Mulinari-Brenner F, Lima LH, Zago Filho LA, Shiokawa N, Bicalho MDG, Sato MT.
    Clin Genet; 2020 Mar 01; 97(3):529-531. PubMed ID: 31696509
    [No Abstract] [Full Text] [Related]

  • 26. Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
    Naqvi SK, Wasif N, Javaid H, Ahmad W.
    Orthod Craniofac Res; 2011 Aug 01; 14(3):156-9. PubMed ID: 21771270
    [Abstract] [Full Text] [Related]

  • 27. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
    Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.
    Clin Genet; 2007 Jul 01; 72(1):23-9. PubMed ID: 17594396
    [Abstract] [Full Text] [Related]

  • 28. P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.
    Shimomura Y, Wajid M, Shapiro L, Christiano AM.
    Development; 2008 Feb 01; 135(4):743-53. PubMed ID: 18199584
    [Abstract] [Full Text] [Related]

  • 29. P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2.
    Samuelov L, Sprecher E, Tsuruta D, Bíró T, Kloepper JE, Paus R.
    J Invest Dermatol; 2012 Oct 01; 132(10):2332-2341. PubMed ID: 22696062
    [Abstract] [Full Text] [Related]

  • 30. Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
    Singh MS, Broadgate S, Mathur R, Holt R, Halford S, MacLaren RE.
    Sci Rep; 2016 May 09; 6():23674. PubMed ID: 27157923
    [Abstract] [Full Text] [Related]

  • 31. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
    Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A.
    J Am Acad Dermatol; 2009 Nov 09; 61(5):813-8. PubMed ID: 19766349
    [Abstract] [Full Text] [Related]

  • 32. Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
    Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E.
    Doc Ophthalmol; 2019 Apr 09; 138(2):153-160. PubMed ID: 30710256
    [Abstract] [Full Text] [Related]

  • 33. Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
    Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E.
    Ophthalmic Res; 2020 Apr 09; 63(2):141-151. PubMed ID: 31927556
    [Abstract] [Full Text] [Related]

  • 34. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
    Avitan-Hersh E, Indelman M, Khamaysi Z, Leibu R, Bergman R.
    Int J Dermatol; 2012 Mar 09; 51(3):325-7. PubMed ID: 22348569
    [No Abstract] [Full Text] [Related]

  • 35. Histopathology of hypotrichosis with juvenile macular dystrophy.
    Bergman R, Sapir M, Sprecher E.
    Am J Dermatopathol; 2004 Jun 09; 26(3):205-9. PubMed ID: 15166507
    [Abstract] [Full Text] [Related]

  • 36. Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.
    Leibu R, Jermans A, Hatim G, Miller B, Sprecher E, Perlman I.
    Ophthalmology; 2006 May 09; 113(5):841-7.e3. PubMed ID: 16650681
    [Abstract] [Full Text] [Related]

  • 37. A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.
    Khan B, Ahmed Z, Ahmad W.
    J Investig Med; 2010 Jun 09; 58(5):720-4. PubMed ID: 20305575
    [Abstract] [Full Text] [Related]

  • 38. Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
    Halford S, Holt R, Németh AH, Downes SM.
    Arch Ophthalmol; 2012 Nov 09; 130(11):1490-2. PubMed ID: 23143461
    [No Abstract] [Full Text] [Related]

  • 39. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
    Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E.
    Arch Dermatol Res; 2009 Jun 09; 301(5):391-3. PubMed ID: 18820939
    [Abstract] [Full Text] [Related]

  • 40. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
    Naeem M, Muhammad D, Ahmad W.
    Br J Dermatol; 2005 Jul 09; 153(1):46-50. PubMed ID: 16029325
    [Abstract] [Full Text] [Related]

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