244 related articles for article (PubMed ID: 18085567)
1. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
Tomaselli S; Megiorni F; De Bernardo C; Felici A; Marrocco G; Maggiulli G; Grammatico B; Remotti D; Saccucci P; Valentini F; Mazzilli MC; Majore S; Grammatico P
Hum Mutat; 2008 Feb; 29(2):220-6. PubMed ID: 18085567
[TBL] [Abstract][Full Text] [Related]
2. R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.
Tomizuka K; Horikoshi K; Kitada R; Sugawara Y; Iba Y; Kojima A; Yoshitome A; Yamawaki K; Amagai M; Inoue A; Oshima T; Kakitani M
Hum Mol Genet; 2008 May; 17(9):1278-91. PubMed ID: 18250097
[TBL] [Abstract][Full Text] [Related]
3. 46,XX SRY-negative true hermaphrodite siblings.
Dorsey FY; Hsieh MH; Roth DR
Urology; 2009 Mar; 73(3):529-31. PubMed ID: 19038427
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.
Naasse Y; Bakhchane A; Charoute H; Jennane F; Bignon-Topalovic J; Malki A; Bashamboo A; Barakat A; Rouba H; McElreavey K
Sex Dev; 2017; 11(5-6):269-274. PubMed ID: 29262419
[TBL] [Abstract][Full Text] [Related]
6. Ovotesticular disorder of sexual development (true hermaphroditism).
Berger-Zaslav AL; Mehta L; Jacob J; Mercado T; Gadi I; Tepperberg JH; Palmer LS
Urology; 2009 Feb; 73(2):293-6. PubMed ID: 18822450
[TBL] [Abstract][Full Text] [Related]
7. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.
Queipo G; Zenteno JC; Peña R; Nieto K; Radillo A; Dorantes LM; Eraña L; Lieberman E; Söderlund D; Jiménez AL; Ramón G; Kofman-Alfaro S
Hum Genet; 2002 Sep; 111(3):278-83. PubMed ID: 12215841
[TBL] [Abstract][Full Text] [Related]
8. [True hermaphroditism].
Naito K
Nihon Rinsho; 2004 Feb; 62(2):300-4. PubMed ID: 14968535
[TBL] [Abstract][Full Text] [Related]
9. Sry-negative XX true hermaphroditism in a roe deer.
Pajares G; Balseiro A; Pérez-Pardal L; Gamarra JA; Monteagudo LV; Goyache F; Royo LJ
Anim Reprod Sci; 2009 May; 112(1-2):190-7. PubMed ID: 18524504
[TBL] [Abstract][Full Text] [Related]
10. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
[TBL] [Abstract][Full Text] [Related]
11. Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Tallapaka K; Venugopal V; Dalal A; Aggarwal S
Am J Med Genet A; 2018 Apr; 176(4):1006-1010. PubMed ID: 29575617
[TBL] [Abstract][Full Text] [Related]
12. Loss of R-spondin1 and Foxl2 amplifies female-to-male sex reversal in XX mice.
Auguste A; Chassot AA; Grégoire EP; Renault L; Pannetier M; Treier M; Pailhoux E; Chaboissier MC
Sex Dev; 2011; 5(6):304-17. PubMed ID: 22116255
[TBL] [Abstract][Full Text] [Related]
13. Genetics of ovarian differentiation: Rspo1, a major player.
Chassot AA; Gregoire EP; Magliano M; Lavery R; Chaboissier MC
Sex Dev; 2008; 2(4-5):219-27. PubMed ID: 18987496
[TBL] [Abstract][Full Text] [Related]
14. The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery.
Verkauskas G; Jaubert F; Lortat-Jacob S; Malan V; Thibaud E; Nihoul-Fékété C
J Urol; 2007 Feb; 177(2):726-31; discussion 731. PubMed ID: 17222668
[TBL] [Abstract][Full Text] [Related]
15. Females of four mole species of genus Talpa (insectivora, mammalia) are true hermaphrodites with ovotestes.
Sánchez A; Bullejos M; Burgos M; Hera C; Stamatopoulos C; Diaz De la Guardia R; Jiménez R
Mol Reprod Dev; 1996 Jul; 44(3):289-94. PubMed ID: 8858598
[TBL] [Abstract][Full Text] [Related]
16. R-spondin1 is required for normal epithelial morphogenesis during mammary gland development.
Chadi S; Buscara L; Pechoux C; Costa J; Laubier J; Chaboissier MC; Pailhoux E; Vilotte JL; Chanat E; Le Provost F
Biochem Biophys Res Commun; 2009 Dec; 390(3):1040-3. PubMed ID: 19857464
[TBL] [Abstract][Full Text] [Related]
17. Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype.
Kini U; Bantwal G; Ayyar V; Idiculla J
J Assoc Physicians India; 2008 Jul; 56():549-51. PubMed ID: 18846912
[TBL] [Abstract][Full Text] [Related]
18. R-spondin1 is essential in sex determination, skin differentiation and malignancy.
Parma P; Radi O; Vidal V; Chaboissier MC; Dellambra E; Valentini S; Guerra L; Schedl A; Camerino G
Nat Genet; 2006 Nov; 38(11):1304-9. PubMed ID: 17041600
[TBL] [Abstract][Full Text] [Related]
19. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
