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Journal Abstract Search

160 related items for PubMed ID: 35178721

  • 1. A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
    Cai ZR, McCuaig C, Hatami A, Rivière JB, Marcoux D.
    Pediatr Dermatol; 2022 Mar; 39(2):281-287. PubMed ID: 35178721
    [Abstract] [Full Text] [Related]

  • 2. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
    Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB.
    Nat Genet; 2019 Oct; 51(10):1438-1441. PubMed ID: 31570889
    [Abstract] [Full Text] [Related]

  • 3. Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.
    Belzile E, McCuaig C, Le Meur JB, Coulombe J, Hatami A, Powell J, Rivière JB, Marcoux D.
    Pediatr Dermatol; 2019 Nov; 36(6):869-875. PubMed ID: 31359495
    [Abstract] [Full Text] [Related]

  • 4. Linear hypopigmentation and hyperpigmentation, including mosaicism.
    Loomis CA.
    Semin Cutan Med Surg; 1997 Mar; 16(1):44-53. PubMed ID: 9125765
    [Abstract] [Full Text] [Related]

  • 5. Pigmentary mosaicism: a review of original literature and recommendations for future handling.
    Kromann AB, Ousager LB, Ali IKM, Aydemir N, Bygum A.
    Orphanet J Rare Dis; 2018 Mar 05; 13(1):39. PubMed ID: 29506540
    [Abstract] [Full Text] [Related]

  • 6. Sweat testing in hypomelanosis of Ito: divergent results reflecting genetic heterogeneity.
    Steijlen PM, Viëtor HE, Steensel MV, Happle R.
    Eur J Dermatol; 2000 Mar 05; 10(3):217-9. PubMed ID: 10725822
    [Abstract] [Full Text] [Related]

  • 7. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
    Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J.
    Hum Mutat; 2020 Mar 05; 41(3):591-599. PubMed ID: 31821646
    [Abstract] [Full Text] [Related]

  • 8.
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  • 9. [Hypomelanosis of Ito in a girl with Trisomy 13 mosaicism: a cytogenetic study].
    Ronger S, Till M, Kanitakis J, Balme B, Thomas L.
    Ann Dermatol Venereol; 2003 Nov 05; 130(11):1033-8. PubMed ID: 14724538
    [Abstract] [Full Text] [Related]

  • 10. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
    Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P.
    Genet Med; 2021 Aug 05; 23(8):1484-1491. PubMed ID: 33833411
    [Abstract] [Full Text] [Related]

  • 11. Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
    Pavone V, Signorelli SS, Praticò AD, Corsello G, Savasta S, Falsaperla R, Pavone P, Sessa G, Ruggieri M.
    Medicine (Baltimore); 2016 Mar 05; 95(10):e2705. PubMed ID: 26962770
    [Abstract] [Full Text] [Related]

  • 12. Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.
    Ruggieri M, Roggini M, Spalice A, Addis M, Iannetti P.
    Pediatr Neurol; 2009 May 05; 40(5):383-6. PubMed ID: 19380077
    [Abstract] [Full Text] [Related]

  • 13. Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].
    Yakinci C, Kutlu NO, Alp MN, Senol M, Durmaz Y, Budak T.
    Turk J Pediatr; 2002 May 05; 44(2):152-5. PubMed ID: 12026206
    [Abstract] [Full Text] [Related]

  • 14. [Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].
    Koutra E, Lusmöller E, Fischer J, Komlosi K, Stadler R, Gutzmer R.
    Dermatologie (Heidelb); 2024 Jun 05; 75(6):486-491. PubMed ID: 38366244
    [Abstract] [Full Text] [Related]

  • 15. Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report.
    Ponti G, Pellacani G, Tomasi A, Percesepe A, Guarneri C, Guerra A, Mandel VD, Kisla E, Cevikel P, Neri C, Menozzi C, Seidenari S.
    J Med Case Rep; 2014 Oct 09; 8():333. PubMed ID: 25301139
    [Abstract] [Full Text] [Related]

  • 16. Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.
    González-Enseñat MA, Vicente A, Poo P, Catalá V, Mar Pérez-Iribarne M, Fuster C, Geán E, Happle R.
    Arch Dermatol; 2009 May 09; 145(5):576-8. PubMed ID: 19451503
    [Abstract] [Full Text] [Related]

  • 17. Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty.
    Dhar SU, Robbins-Furman P, Levy ML, Patel A, Scaglia F.
    Am J Med Genet A; 2009 May 09; 149A(5):993-6. PubMed ID: 19334087
    [Abstract] [Full Text] [Related]

  • 18. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.
    Pavone P, Praticò AD, Ruggieri M, Falsaperla R.
    Neurol Sci; 2015 Jul 09; 36(7):1173-80. PubMed ID: 25586695
    [Abstract] [Full Text] [Related]

  • 19. Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report.
    Trägårdh M, Thomsen CR, Thorninger R, Møller-Madsen B.
    J Med Case Rep; 2014 May 19; 8():156. PubMed ID: 24886611
    [Abstract] [Full Text] [Related]

  • 20. Monogenic causes of pigmentary mosaicism.
    Saida K, Chong PF, Yamaguchi A, Saito N, Ikehara H, Koshimizu E, Miyata R, Ishiko A, Nakamura K, Ohnishi H, Fujioka K, Sakakibara T, Asada H, Ogawa K, Kudo K, Ohashi E, Kawai M, Abe Y, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Miyake N, Kato M, Kira R, Matsumoto N.
    Hum Genet; 2022 Nov 19; 141(11):1771-1784. PubMed ID: 35503477
    [Abstract] [Full Text] [Related]

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