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 *

130 related articles for article (PubMed ID: 32902915)

  • 1. Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.
    Chacon-Camacho OF; Arce-Gonzalez R; Ordaz-Robles T; Perezpeña-Diazconti M; Nava-Castañeda A; Zenteno JC
    Am J Med Genet A; 2020 Nov; 182(11):2773-2777. PubMed ID: 32902915
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.
    Morice-Picard F; Michaud V; Lasseaux E; Rezvani HR; Plaisant C; Bessis D; Leauté-Labrèze C; Arveiler B; Taieb A; Trimouille A; Boralevi F
    J Invest Dermatol; 2020 Jun; 140(6):1289-1292.e2. PubMed ID: 31790666
    [No Abstract]   [Full Text] [Related]  

  • 3. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions.
    Leithauser LA; Mutasim DF
    J Cutan Pathol; 2012 Apr; 39(4):431-9. PubMed ID: 22443394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation.
    Kim S; Jeong H; Ko JM; Kwon O; Oh JY
    Cornea; 2023 Dec; 42(12):1586-1589. PubMed ID: 37699567
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hereditary mucoepithelial dysplasia: report of two sporadic cases.
    Hernández-Martín A; Colmenero I; Torrelo A
    Pediatr Dermatol; 2012; 29(3):311-5. PubMed ID: 22122740
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.
    Boralevi F; Haftek M; Vabres P; Lepreux S; Goizet C; Leaute-Labreze C; Taieb A
    Br J Dermatol; 2005 Aug; 153(2):310-8. PubMed ID: 16086741
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Alopecia in hereditary mucoepithelial dysplasia.
    Satcher KG; Schoch JJ; Walker A
    J Cutan Pathol; 2022 Jan; 49(1):103-105. PubMed ID: 34428310
    [No Abstract]   [Full Text] [Related]  

  • 9. Hereditary mucoepithelial dysplasia and severe respiratory distress.
    Halawa M; Abu-Hasan MN; ElMallah MK
    Respir Med Case Rep; 2015; 15():27-9. PubMed ID: 26236594
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants.
    Murase C; Takeichi T; Nomura T; Ogi T; Akiyama M
    J Invest Dermatol; 2021 Jun; 141(6):1596-1598. PubMed ID: 33253727
    [No Abstract]   [Full Text] [Related]  

  • 11. Hereditary mucoepithelial dysplasia. Case report and review of the literature.
    Scheman AJ; Ray DJ; Witkop CJ; Dahl MV
    J Am Acad Dermatol; 1989 Aug; 21(2 Pt 2):351-7. PubMed ID: 2666466
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New clinical aspects of hereditary mucoepithelial dysplasia.
    Urban MD; Schosser R; Spohn W; Wentling WO; Robinow M
    Am J Med Genet; 1991 Jun; 39(3):338-41. PubMed ID: 1867287
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
    Wang H; Humbatova A; Liu Y; Qin W; Lee M; Cesarato N; Kortüm F; Kumar S; Romano MT; Dai S; Mo R; Sivalingam S; Motameny S; Wu Y; Wang X; Niu X; Geng S; Bornholdt D; Kroisel PM; Tadini G; Walter SD; Hauck F; Girisha KM; Calza AM; Bottani A; Altmüller J; Buness A; Yang S; Sun X; Ma L; Kutsche K; Grzeschik KH; Betz RC; Lin Z
    Am J Hum Genet; 2020 Jul; 107(1):34-45. PubMed ID: 32497488
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Long-term ocular follow-up in a case with hereditary mucoepithelial dysplasia.
    Avadhanam VS; Khaw PT; Martin KR
    J Pediatr Ophthalmol Strabismus; 2010 Nov; 47 Online():e1-4. PubMed ID: 21117525
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation.
    Witkop CJ; White JG; King RA; Dahl MV; Young WG; Sauk JJ
    Am J Hum Genet; 1979 Jul; 31(4):414-27. PubMed ID: 484550
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Are ichthyosis follicularis and hereditary mucoepithelial dystrophy related diseases.
    Rothe MJ; Lucky AW
    Pediatr Dermatol; 1995 Jun; 12(2):195. PubMed ID: 7659652
    [No Abstract]   [Full Text] [Related]  

  • 17. Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.
    Ali G; Awan NB; Sadia ; Khawaja AW; Foo JN; Khor CC; Chang CH; Chew EG; Kiani FR; Jelani M
    J Gene Med; 2020 May; 22(5):e3167. PubMed ID: 32020700
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Scarring alopecia with follicular papules in a father and his daughter.
    Bishnoi A; Mahajan R; Vishwajeet V; Saikia UN
    Clin Exp Dermatol; 2019 Apr; 44(3):337-340. PubMed ID: 30152173
    [No Abstract]   [Full Text] [Related]  

  • 19. Three rare disease diagnoses in one patient through exome sequencing.
    Ferrer A; Schultz-Rogers L; Kaiwar C; Kemppainen JL; Klee EW; Gavrilova RH
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31427378
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family.
    Ullah A; Khan R; Naeem M
    J Pediatr Endocrinol Metab; 2019 Dec; 32(12):1385-1389. PubMed ID: 31483760
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.