166 related articles for article (PubMed ID: 37612603)
1. Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.
Lin Z; Li J; Pei Y; Mo Y; Jiang X; Chen L
BMC Nephrol; 2023 Aug; 24(1):248. PubMed ID: 37612603
[TBL] [Abstract][Full Text] [Related]
2. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.
Zhang H; Gao J; Wang H; Liu M; Lu S; Xu H; Tang W; Zheng G
BMC Med Genomics; 2024 Apr; 17(1):89. PubMed ID: 38627775
[TBL] [Abstract][Full Text] [Related]
3. An infant with congenital heart defects and proteinuria: a case report.
Liu D; Wang Y
BMC Pediatr; 2022 Nov; 22(1):636. PubMed ID: 36333735
[TBL] [Abstract][Full Text] [Related]
4. Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
Gigante M; d'Altilia M; Montemurno E; Diella S; Bruno F; Netti GS; Ranieri E; Stallone G; Infante B; Grandaliano G; Gesualdo L
BMC Nephrol; 2013 Mar; 14():60. PubMed ID: 23506628
[TBL] [Abstract][Full Text] [Related]
5. Case report of a novel mutation of the
Spahiu L; Merovci B; Ismaili Jaha V; Batalli Këpuska A; Jashari H
Balkan J Med Genet; 2016 Dec; 19(2):91-94. PubMed ID: 28289595
[TBL] [Abstract][Full Text] [Related]
6. [Branchio-oto-renal syndrome (BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease].
Holzmüller M
HNO; 2000 Nov; 48(11):839-42. PubMed ID: 11139890
[TBL] [Abstract][Full Text] [Related]
7. [A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure].
Sikora P; Zajaczkowska M; Katska E; Niedzielska G
Pol Merkur Lekarski; 2001 Apr; 10(58):291-3. PubMed ID: 11434182
[TBL] [Abstract][Full Text] [Related]
8. A family with the branchio-oto-renal syndrome: clinical and genetic correlations.
Pierides AM; Athanasiou Y; Demetriou K; Koptides M; Deltas CC
Nephrol Dial Transplant; 2002 Jun; 17(6):1014-8. PubMed ID: 12032190
[TBL] [Abstract][Full Text] [Related]
9. Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.
Men M; Li W; Chen H; Wu J; Feng Y; Guo H; Li JD
Laryngoscope; 2020 Feb; 130(2):526-532. PubMed ID: 30908667
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.
Matsunaga T; Okada M; Usami S; Okuyama T
Acta Otolaryngol; 2007 Jan; 127(1):98-104. PubMed ID: 17364338
[TBL] [Abstract][Full Text] [Related]
11. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome.
Kalatzis V; Sahly I; El-Amraoui A; Petit C
Dev Dyn; 1998 Dec; 213(4):486-99. PubMed ID: 9853969
[TBL] [Abstract][Full Text] [Related]
12. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
Lin AE; Semina EV; Daack-Hirsch S; Roeder ER; Curry CJ; Rosenbaum K; Weaver DD; Murray JC
Am J Med Genet; 2000 Apr; 91(5):387-90. PubMed ID: 10767004
[TBL] [Abstract][Full Text] [Related]
13. A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.
Clarke JC; Honey EM; Bekker E; Snyman LC; Raymond RM; Lord C; Brophy PD
Clin Genet; 2006 Jul; 70(1):63-7. PubMed ID: 16813606
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.
Wang YG; Sun SP; Qiu YL; Xing QH; Lu W
BMC Med Genet; 2018 Aug; 19(1):139. PubMed ID: 30086703
[TBL] [Abstract][Full Text] [Related]
15. Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.
Muthusamy K; Hanna C; Johnson DR; Cramer CH; Tebben PJ; Libi SE; Poling GL; Lanpher BC; Morava E; Schimmenti LA
Am J Med Genet A; 2021 Jan; 185(1):261-266. PubMed ID: 33098377
[TBL] [Abstract][Full Text] [Related]
16. [Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene].
Markova TG
Vestn Otorinolaringol; 2006; (6):25-8. PubMed ID: 17419499
[TBL] [Abstract][Full Text] [Related]
17. Branchio-Oto-renal syndrome: a report on nine family groups.
Bellini C; Piaggio G; Massocco D; Perfumo F; Bertini ; Gusmano R; Serra G
Am J Kidney Dis; 2001 Mar; 37(3):505-9. PubMed ID: 11228174
[TBL] [Abstract][Full Text] [Related]
18. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
Stratakis CA; Lin JP; Rennert OM
Am J Med Genet; 1998 Sep; 79(3):209-14. PubMed ID: 9788564
[TBL] [Abstract][Full Text] [Related]
19. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
Morisada N; Nozu K; Iijima K
Pediatr Int; 2014 Jun; 56(3):309-14. PubMed ID: 24730701
[TBL] [Abstract][Full Text] [Related]
20. Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome.
Feng H; Xu H; Chen B; Sun S; Zhai R; Zeng B; Tang W; Lu W
Front Genet; 2021; 12():765433. PubMed ID: 34868248
[No Abstract] [Full Text] [Related]
[Next] [New Search]
