119 related articles for article (PubMed ID: 34797033)
1. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Safgren SL; Olson RJ; Pinto E Vairo F; Bothun ED; Hanna C; Klee EW; Schimmenti LA
Am J Med Genet A; 2022 Mar; 188(3):919-925. PubMed ID: 34797033
[TBL] [Abstract][Full Text] [Related]
2. A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case.
Nie L; Li Y; Xiao T; Zhang B; Zhao J; Hou W
Nephron; 2023; 147(5):311-316. PubMed ID: 36318887
[TBL] [Abstract][Full Text] [Related]
3. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Alankarage D; Szot JO; Pachter N; Slavotinek A; Selleri L; Shieh JT; Winlaw D; Giannoulatou E; Chapman G; Dunwoodie SL
Hum Mol Genet; 2020 May; 29(7):1068-1082. PubMed ID: 31625560
[TBL] [Abstract][Full Text] [Related]
4. Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P; Garland J; Byrne AB; Hardy TSE; Babic M; Feng J; Wang P; Ha T; King-Smith SL; Schreiber AW; Crawford A; Manton N; Moore L; Barnett CP; Scott HS
Am J Med Genet A; 2020 May; 182(5):1273-1277. PubMed ID: 32141698
[TBL] [Abstract][Full Text] [Related]
5. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A; Risolino M; Losa M; Cho MT; Monaghan KG; Schneidman-Duhovny D; Parisotto S; Herkert JC; Stegmann APA; Miller K; Shur N; Chui J; Muller E; DeBrosse S; Szot JO; Chapman G; Pachter NS; Winlaw DS; Mendelsohn BA; Dalton J; Sarafoglou K; Karachunski PI; Lewis JM; Pedro H; Dunwoodie SL; Selleri L; Shieh J
Hum Mol Genet; 2017 Dec; 26(24):4849-4860. PubMed ID: 29036646
[TBL] [Abstract][Full Text] [Related]
6.
Le Tanno P; Breton J; Bidart M; Satre V; Harbuz R; Ray PF; Bosson C; Dieterich K; Jaillard S; Odent S; Poke G; Beddow R; Digilio MC; Novelli A; Bernardini L; Pisanti MA; Mackenroth L; Hackmann K; Vogel I; Christensen R; Fokstuen S; Béna F; Amblard F; Devillard F; Vieville G; Apostolou A; Jouk PS; Guebre-Egziabher F; Sartelet H; Coutton C
J Med Genet; 2017 Jul; 54(7):502-510. PubMed ID: 28270404
[TBL] [Abstract][Full Text] [Related]
7. A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.
Hu J; Yang H; Wang X; Ding J; Liao P; Zhu G; Qi C
Am J Med Genet A; 2023 Dec; 191(12):2850-2855. PubMed ID: 37571997
[TBL] [Abstract][Full Text] [Related]
8. Identification of a Novel Heterozygous
Riedhammer KM; Siegel C; Alhaddad B; Montoya C; Kovacs-Nagy R; Wagner M; Meitinger T; Hoefele J
Front Pediatr; 2017; 5():251. PubMed ID: 29226118
[TBL] [Abstract][Full Text] [Related]
9. Inherited intragenic PBX1 deletion: Expanding the phenotype.
Fitzgerald KK; Powell-Hamilton N; Shillingford AJ; Robinson B; Gripp KW
Am J Med Genet A; 2021 Jan; 185(1):234-237. PubMed ID: 33098248
[TBL] [Abstract][Full Text] [Related]
10. The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.
Mary L; Leclerc D; Gilot D; Belaud-Rotureau MA; Jaillard S
Hum Mutat; 2022 Sep; 43(9):1125-1148. PubMed ID: 35451537
[TBL] [Abstract][Full Text] [Related]
11. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.
Pasutto F; Mauri L; Popp B; Sticht H; Ekici A; Piozzi E; Bonfante A; Penco S; Schlötzer-Schrehardt U; Reis A
Gene; 2015 Aug; 568(1):76-80. PubMed ID: 25967385
[TBL] [Abstract][Full Text] [Related]
13. An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Ruscitti F; Cerminara M; Iascone M; Pezzoli L; Rosti G; Romano F; Ronchetto P; Martucciello G; Buratti S; Buffelli F; Bocciardi R; Puliti A; Divizia MT
Birth Defects Res; 2022 Jul; 114(12):674-681. PubMed ID: 35751431
[TBL] [Abstract][Full Text] [Related]
14. Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.
Sun M; Lou J; Li Q; Chen J; Li Y; Li D; Yuan H; Liu Y
Taiwan J Obstet Gynecol; 2019 Mar; 58(2):292-295. PubMed ID: 30910156
[TBL] [Abstract][Full Text] [Related]
15. Targeted Exome Sequencing Identifies
Heidet L; Morinière V; Henry C; De Tomasi L; Reilly ML; Humbert C; Alibeu O; Fourrage C; Bole-Feysot C; Nitschké P; Tores F; Bras M; Jeanpierre M; Pietrement C; Gaillard D; Gonzales M; Novo R; Schaefer E; Roume J; Martinovic J; Malan V; Salomon R; Saunier S; Antignac C; Jeanpierre C
J Am Soc Nephrol; 2017 Oct; 28(10):2901-2914. PubMed ID: 28566479
[TBL] [Abstract][Full Text] [Related]
16. Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals
Lang E; Koller S; Bähr L; Töteberg-Harms M; Atac D; Roulez F; Bahr A; Steindl K; Feil S; Berger W; Gerth-Kahlert C
Transl Vis Sci Technol; 2020 Jun; 9(7):47. PubMed ID: 32832252
[TBL] [Abstract][Full Text] [Related]
17. Novel somatic
Petzold F; Jin W; Hantmann E; Korbach K; Schönauer R; Halbritter J
Clin Kidney J; 2022 Jul; 15(7):1333-1339. PubMed ID: 35756743
[TBL] [Abstract][Full Text] [Related]
18. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
Micheal S; Siddiqui SN; Zafar SN; Villanueva-Mendoza C; Cortés-González V; Khan MI; den Hollander AI
PLoS One; 2016; 11(7):e0160016. PubMed ID: 27463523
[TBL] [Abstract][Full Text] [Related]
19. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Wu CW; Mann N; Nakayama M; Connaughton DM; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Wang C; Klämbt V; Seltzsam S; Lai EW; Selvin A; Senguttuva P; Bodamer O; Stein DR; El Desoky S; Kari JA; Tasic V; Bauer SB; Shril S; Hildebrandt F
Genet Med; 2020 Oct; 22(10):1673-1681. PubMed ID: 32475988
[TBL] [Abstract][Full Text] [Related]
20. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
Gripp KW; Hopkins E; Jenny K; Thacker D; Salvin J
Am J Med Genet A; 2013 Jan; 161A(1):114-9. PubMed ID: 23239455
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]