121 related articles for article (PubMed ID: 37571997)
1. 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]
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. 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]
4. Oligomeganephronia: case report and literature review.
Yang XD; Shi W; Li D; Peng T
Srp Arh Celok Lek; 2014; 142(11-12):732-5. PubMed ID: 25731007
[TBL] [Abstract][Full Text] [Related]
5. Clinical and pathological investigation of oligomeganephronia.
Kitakado H; Horinouchi T; Masuda C; Kondo A; Nagai S; Aoto Y; Sakakibara N; Ninchoji T; Yoshikawa N; Nozu K
Pediatr Nephrol; 2023 Mar; 38(3):757-762. PubMed ID: 35861872
[TBL] [Abstract][Full Text] [Related]
6. Oligomeganephronia in an adult without end stage renal failure.
Fuke Y; Hemmi S; Kajiwara M; Yabuki M; Fujita T; Soma M
Clin Exp Nephrol; 2012 Apr; 16(2):325-8. PubMed ID: 22116503
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. A case of late-onset oligomeganephronia.
Alves RJ; Oppermann K; Schein LE; Pêgas KL
J Bras Nefrol; 2012; 34(4):392-4. PubMed ID: 23318829
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene.
Luo M; Gu X; Zhou T; Chen C
Mol Cytogenet; 2022 Dec; 15(1):53. PubMed ID: 36544198
[TBL] [Abstract][Full Text] [Related]
14.
Bitó L; Kalmár T; Maróti Z; Turkevi-Nagy S; Bereczki C; Iványi B
Case Rep Nephrol Dial; 2020; 10(3):163-173. PubMed ID: 33363218
[TBL] [Abstract][Full Text] [Related]
15. [A case of oligomeganephronia--quantitative measurement of the glomerular surface area and the number of glomeruli with a color image analyzer].
Ohshima T; Inaba S; Arai M; Sakai Y; Kurose K; Ishihara S; Takahashi T; Takai R; Matukura H; Yoshida R
Nihon Jinzo Gakkai Shi; 1994 Mar; 36(3):271-6. PubMed ID: 8196224
[TBL] [Abstract][Full Text] [Related]
16. A Case Report and Literature Review of Oligomeganephronia.
Wang XH; Pan L; He S; Kong DL; Wang W
Front Med (Lausanne); 2022; 9():811992. PubMed ID: 35391889
[TBL] [Abstract][Full Text] [Related]
17. Pathological and clinical characteristics of late-onset oligomeganephronia based on a histomorphometric study.
Ren YL; Li Y; Gao J; Zhou XJ; Yang L; Wang SX
BMC Nephrol; 2023 Mar; 24(1):54. PubMed ID: 36922764
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Oligomeganephronia with PAX2 gene deletion diagnosed at the third renal biopsy: a case report.
Yokoyama T; Sakumura N; Inoue N; Ohta K; Wada T
J Nephrol; 2024 Mar; 37(2):495-499. PubMed ID: 38060109
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
