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 *

120 related articles for article (PubMed ID: 29262419)

  • 21. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
    Camats N; Pandey AV; Fernández-Cancio M; Andaluz P; Janner M; Torán N; Moreno F; Bereket A; Akcay T; García-García E; Muñoz MT; Gracia R; Nistal M; Castaño L; Mullis PE; Carrascosa A; Audí L; Flück CE
    J Clin Endocrinol Metab; 2012 Jul; 97(7):E1294-306. PubMed ID: 22549935
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
    Zhao L; Vahlquist A; Virtanen M; Wennerstrand L; Lind LK; Lundström A; Hellström Pigg M
    Acta Derm Venereol; 2014 Nov; 94(6):707-10. PubMed ID: 24604124
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.
    Takasawa K; Igarashi M; Ono M; Takemoto A; Takada S; Yamataka A; Ogata T; Morio T; Fukami M; Kashimada K
    Sex Dev; 2017; 11(5-6):284-288. PubMed ID: 29393271
    [TBL] [Abstract][Full Text] [Related]  

  • 24. MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.
    Brandão MP; Costa EM; Fukami M; Gerdulo M; Pereira NP; Domenice S; Ogata T; Mendonca BB
    Adv Exp Med Biol; 2011; 707():129-31. PubMed ID: 21691970
    [No Abstract]   [Full Text] [Related]  

  • 25. Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
    Warman DM; Costanzo M; Marino R; Berensztein E; Galeano J; Ramirez PC; Saraco N; Baquedano MS; Ciaccio M; Guercio G; Chaler E; Maceiras M; Lazzatti JM; Bailez M; Rivarola MA; Belgorosky A
    Horm Res Paediatr; 2011; 75(1):70-7. PubMed ID: 20861607
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation.
    Divyasri N; Varma P; Kunnuru S; Anne B
    BMJ Case Rep; 2024 Feb; 17(2):. PubMed ID: 38331444
    [TBL] [Abstract][Full Text] [Related]  

  • 27. XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
    Radi O; Parma P; Imbeaud S; Nasca MR; Uccellatore F; Maraschio P; Tiepolo L; Micali G; Camerino G
    Am J Med Genet A; 2005 Oct; 138A(3):241-6. PubMed ID: 16158431
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.
    Mohamad J; Samuelov L; Malki L; Peled A; Pavlovsky M; Malovitski K; Taiber S; Adir N; Rabinowitz T; Shomron N; Milner JD; Lestringant G; Sarig O; Sprecher E
    Clin Exp Dermatol; 2021 Jan; 46(1):103-108. PubMed ID: 32683719
    [TBL] [Abstract][Full Text] [Related]  

  • 29. R-spondin1 in loach (Misgurnus anguillicaudatus): Identification, characterization, and analysis of its expression patterns and DNA methylation in response to high-temperature stress.
    Huang G; Cao J; Gao F; Liu Z; Lu M; Chen G
    Comp Biochem Physiol B Biochem Mol Biol; 2021; 254():110569. PubMed ID: 33515787
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in the RSPO1 coding region are not the main cause of canine SRY-negative XX sex reversal in several breeds.
    De Lorenzi L; Groppetti D; Arrighi S; Pujar S; Nicoloso L; Molteni L; Pecile A; Cremonesi F; Parma P; Meyers-Wallen V
    Sex Dev; 2008; 2(2):84-95. PubMed ID: 18577875
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.
    Temel SG; Gulten T; Yakut T; Saglam H; Kilic N; Bausch E; Jin WJ; Leipoldt M; Scherer G
    Sex Dev; 2007; 1(1):24-34. PubMed ID: 18391513
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Evidence of the Role of R-Spondin 1 and Its Receptor Lgr4 in the Transmission of Mechanical Stimuli to Biological Signals for Bone Formation.
    Shi GX; Zheng XF; Zhu C; Li B; Wang YR; Jiang SD; Jiang LS
    Int J Mol Sci; 2017 Mar; 18(3):. PubMed ID: 28272338
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.
    Molho-Pessach V; Sheffer S; Siam R; Tams S; Siam I; Awwad R; Babay S; Golender J; Simanovsky N; Ramot Y; Zlotogorski A
    Pediatr Dermatol; 2015; 32(5):641-6. PubMed ID: 25824144
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.
    Grinspon RP; Rey RA
    Sex Dev; 2016; 10(1):1-11. PubMed ID: 27055195
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification of DPY19L3 as the C-mannosyltransferase of R-spondin1 in human cells.
    Niwa Y; Suzuki T; Dohmae N; Simizu S
    Mol Biol Cell; 2016 Mar; 27(5):744-56. PubMed ID: 26764097
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.
    Erken H; Yariz KO; Duman D; Kaya CT; Sayin T; Heper AO; Tekin M
    Br J Dermatol; 2011 Oct; 165(4):917-21. PubMed ID: 21668431
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
    Eckl KM; Stevens HP; Lestringant GG; Westenberger-Treumann M; Traupe H; Hinz B; Frossard PM; Stadler R; Leigh IM; Nürnberg P; Reis A; Hennies HC
    Hum Genet; 2003 Jan; 112(1):50-6. PubMed ID: 12483299
    [TBL] [Abstract][Full Text] [Related]  

  • 38. R-spondin1, WNT4, and the CTNNB1 signaling pathway: strict control over ovarian differentiation.
    Chassot AA; Gillot I; Chaboissier MC
    Reproduction; 2014 Dec; 148(6):R97-110. PubMed ID: 25187620
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome.
    Micali G; Nasca MR; Innocenzi D; Frasin LA; Radi O; Parma P; Camerino G; Schwartz RA
    J Am Acad Dermatol; 2005 Nov; 53(5 Suppl 1):S234-9. PubMed ID: 16227098
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.
    Lin JH; Lin MH; Yang MH; Chao SC
    Clin Exp Dermatol; 2004 May; 29(3):308-10. PubMed ID: 15115518
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.