BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 32482964)

  • 1. Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
    Basilious A; Fung SSM; Ali A
    Cornea; 2020 Oct; 39(10):1321-1324. PubMed ID: 32482964
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
    Jiang Y; Jin H; Zeng Y
    Mol Genet Genomic Med; 2019 Aug; 7(8):e812. PubMed ID: 31215178
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.
    Ferrari B; Morita L; Choate K; Hu RH
    Dermatol Online J; 2017 Feb; 23(2):. PubMed ID: 28329493
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.
    Ming A; Happle R; Grzeschik KH; Fischer G
    Pediatr Dermatol; 2009; 26(4):427-31. PubMed ID: 19689518
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
    Fong K; Takeichi T; Liu L; Pramanik R; Lee J; Akiyama M; McGrath JA
    Clin Exp Dermatol; 2015 Jul; 40(5):529-32. PubMed ID: 25683132
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.
    Izumi K; Wilkens A; Treat JR; Pride HB; Krantz ID
    Pediatr Dermatol; 2013; 30(6):e263-4. PubMed ID: 23551428
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
    Mégarbané H; Mégarbané A
    Orphanet J Rare Dis; 2011 May; 6():29. PubMed ID: 21600032
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.
    Ding YG; Wang JY; Qiao JJ; Mao XH; Cai SQ
    Br J Dermatol; 2010 Oct; 163(4):886-9. PubMed ID: 20854407
    [No Abstract]   [Full Text] [Related]  

  • 9. Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.
    Irurzun I; Natale MI; Agostinelli ML; Lamberti M; Montero D; Granda C; Mássimo JA; Manzur GB; Valinotto LE
    Pediatr Dermatol; 2021 May; 38(3):568-574. PubMed ID: 33742461
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome.
    Fatima T; Mathur U; Acharya M
    Indian J Ophthalmol; 2014 Mar; 62(3):365-7. PubMed ID: 24008802
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.
    Yang Z; Xu Z; Xing H; Ma L
    J Dermatol; 2019 Apr; 46(4):e126-e128. PubMed ID: 30294811
    [No Abstract]   [Full Text] [Related]  

  • 12. An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.
    Chen G; Wang M; Wang P; Liang B
    J Dermatol; 2023 May; 50(5):715-719. PubMed ID: 36539961
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome.
    Rai VM; Shenoi SD
    Indian J Dermatol Venereol Leprol; 2006; 72(2):136-8. PubMed ID: 16707821
    [TBL] [Abstract][Full Text] [Related]  

  • 14. IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.
    Pietrzak A; Kanitakis J; Staśkiewicz G; Sobczyńska-Tomaszewska A; Dybiec E; Szumiło J; Kandzierski G; Wawrzycki B; Chodorowska G
    Eur J Dermatol; 2012; 22(4):467-72. PubMed ID: 22781927
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome affecting two successive generations in an Indian family.
    Lal NR; Bandyopadhyay D; Misra S; Sarkar AK; Rao S
    Indian J Dermatol Venereol Leprol; 2016; 82(5):537-9. PubMed ID: 27212281
    [No Abstract]   [Full Text] [Related]  

  • 16. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.
    Nakayama J; Iwasaki N; Shin K; Sato H; Kamo M; Ohyama M; Noguchi E; Arinami T
    J Hum Genet; 2011 Mar; 56(3):250-2. PubMed ID: 21179107
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment.
    Höpker LM; Ribeiro CG; Oliveira LM; Moreira AT
    Arq Bras Oftalmol; 2011; 74(1):55-7. PubMed ID: 21670910
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
    Migliavacca MP; Fock RA; Almeida N; Cavalcanti T; Villela D; Perez ABA; Valle D; Wohler E; Sobreira NLM; Raskin S
    Rev Paul Pediatr; 2023; 41():e2022057. PubMed ID: 37042943
    [TBL] [Abstract][Full Text] [Related]  

  • 19. In vivo confocal microscopy and optical coherence tomography as innovative tools for the diagnosis of limbal stem cell deficiency.
    Banayan N; Georgeon C; Grieve K; Ghoubay D; Baudouin F; Borderie V
    J Fr Ophtalmol; 2018 Nov; 41(9):e395-e406. PubMed ID: 30458924
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [In vivo confocal microscopy and optical coherence tomography as innovative tools for the diagnosis of limbal stem cell deficiency (French translation of the article)].
    Banayan N; Georgeon C; Grieve K; Ghoubay D; Baudouin F; Borderie V
    J Fr Ophtalmol; 2018 Dec; 41(10):968-980. PubMed ID: 30473234
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.