141 related articles for article (PubMed ID: 36318887)
1. 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]
2. 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]
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. 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]
6. Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in
He G; Zhao J; Wang X; Li S; Qin S; Chen X; Xi N
J Matern Fetal Neonatal Med; 2021 Oct; 34(20):3300-3305. PubMed ID: 31736371
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
Li W; Guo L; Chen B; Shu Y; Li H
Int J Pediatr Otorhinolaryngol; 2023 Aug; 171():111635. PubMed ID: 37390746
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
[TBL] [Abstract][Full Text] [Related]
10.
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]
11. Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.
Li L; Chu C; Li S; Lu D; Zheng P; Sheng J; Luo LJ; Wu X; Zhang YD; Yin C; Duan AH
Fertil Steril; 2021 Nov; 116(5):1360-1369. PubMed ID: 34311961
[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. 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]
14. Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.
Tian T; Lu Y; Yao J; Cao X; Wei Q; Li Q
Genes Genet Syst; 2018 Dec; 93(5):171-179. PubMed ID: 30175721
[TBL] [Abstract][Full Text] [Related]
15. A novel
Li Q; Liang P; Wang S; Li W; Wang J; Yang Y; An X; Chen J; Zha D
Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33846771
[TBL] [Abstract][Full Text] [Related]
16. [Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].
Feng M; Zhou K; Huang L; Tang F; Qu S; Lu Q; Chen R; Li F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):454-457. PubMed ID: 33974254
[TBL] [Abstract][Full Text] [Related]
17. Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.
Liang P; Chen F; Wang S; Li Q; Li W; Wang J; Chen J; Zha D
Int J Pediatr Otorhinolaryngol; 2021 Sep; 148():110817. PubMed ID: 34265623
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
Sarmadi A; Nasrniya S; Narrei S; Nouri Z; Abtahi H; Tabatabaiefar MA
Mol Biol Rep; 2020 Jul; 47(7):5355-5364. PubMed ID: 32623615
[TBL] [Abstract][Full Text] [Related]
19. Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Li M; Mei L; He C; Chen H; Cai X; Liu Y; Tian R; Tian Q; Song J; Jiang L; Liu C; Wu H; Li T; Liu J; Li X; Yi Y; Yan D; Blanton SH; Hu Z; Liu X; Li J; Ling J; Feng Y
Genet Med; 2019 Dec; 21(12):2744-2754. PubMed ID: 31273342
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Li X; Li L; Sun Y; Lv F; Zhang G; Liu W; Zhang M; Jiang H; Liu S
BMC Med Genet; 2019 Aug; 20(1):146. PubMed ID: 31455269
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
