157 related articles for article (PubMed ID: 32219835)
1. [Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].
Lyu Y; Zhao D; Zhang K; Gao M; Ma J; Wang D; Gai Z; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):452-454. PubMed ID: 32219835
[TBL] [Abstract][Full Text] [Related]
2. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].
Zhang R; He XH; Lin HY; Yang XH
Zhonghua Er Ke Za Zhi; 2018 Feb; 56(2):138-141. PubMed ID: 29429203
[No Abstract] [Full Text] [Related]
3. [Analysis of ASXL3 gene variant in a child with Bainbridge-Ropers syndrome].
Duan F; Zhai Y; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar; 38(3):275-277. PubMed ID: 33751541
[TBL] [Abstract][Full Text] [Related]
4. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.
Wang Q; Zhang J; Jiang N; Xie J; Yang J; Zhao X
Mol Genet Genomic Med; 2022 May; 10(5):e1924. PubMed ID: 35276034
[TBL] [Abstract][Full Text] [Related]
5. [A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis].
Zheng S; Chen H; Mo M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):671-673. PubMed ID: 34247375
[TBL] [Abstract][Full Text] [Related]
6. Case report : a novel ASXL3 gene variant in a Sudanese boy.
Wu K; Cong Y
BMC Pediatr; 2021 Dec; 21(1):557. PubMed ID: 34886823
[TBL] [Abstract][Full Text] [Related]
7. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I; Miya F; Ohashi K; Negishi Y; Hattori A; Ando N; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S
Am J Med Genet A; 2016 Jul; 170(7):1863-7. PubMed ID: 27075689
[TBL] [Abstract][Full Text] [Related]
8. A de novo nonsense mutation in
Koboldt DC; Mihalic Mosher T; Kelly BJ; Sites E; Bartholomew D; Hickey SE; McBride K; Wilson RK; White P
Cold Spring Harb Mol Case Stud; 2018 Jun; 4(3):. PubMed ID: 29305346
[TBL] [Abstract][Full Text] [Related]
9. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Schirwani S; Woods E; Koolen DA; Ockeloen CW; Lynch SA; Kavanagh K; Graham JM; Grand K; Pierson TM; Chung JM; Balasubramanian M
Am J Med Genet A; 2023 Jan; 191(1):29-36. PubMed ID: 36177608
[TBL] [Abstract][Full Text] [Related]
10. Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
Yu KP; Luk HM; Fung JLF; Chung BH; Lo IF
Eur J Med Genet; 2021 Jan; 64(1):104107. PubMed ID: 33242595
[TBL] [Abstract][Full Text] [Related]
11. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
Li J; Xu J; She M; Shi P; Kong X; Wang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1228-1232. PubMed ID: 36317208
[TBL] [Abstract][Full Text] [Related]
12. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A; Ritesh KC; Tsan YC; Liao R; Su F; Cao X; Hannibal MC; Keegan CE; Chinnaiyan AM; Martin DM; Bielas SL
Hum Mol Genet; 2016 Feb; 25(3):597-608. PubMed ID: 26647312
[TBL] [Abstract][Full Text] [Related]
13. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
Švantnerová J; Minár M; Radová S; Kolníková M; Vlkovič P; Zech M
Neuropediatrics; 2022 Oct; 53(5):361-365. PubMed ID: 35863334
[No Abstract] [Full Text] [Related]
14. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler A; Czeschik JC; Graf E; Grasshoff U; Hüffmeier U; Busa T; Beck-Woedl S; Faivre L; Rivière JB; Bader I; Koch J; Reis A; Hehr U; Rittinger O; Sperl W; Haack TB; Wieland T; Engels H; Prokisch H; Strom TM; Lüdecke HJ; Wieczorek D
Eur J Hum Genet; 2017 Feb; 25(2):183-191. PubMed ID: 27901041
[TBL] [Abstract][Full Text] [Related]
15. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.
Yang L; Guo B; Zhu W; Wang L; Han B; Che Y; Guo L
BMC Pediatr; 2020 Jun; 20(1):287. PubMed ID: 32517662
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome].
Tie X; Yang Y; He C; Zhang L; Che F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):836-841. PubMed ID: 35929932
[TBL] [Abstract][Full Text] [Related]
17. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Myers KA; White SM; Mohammed S; Metcalfe KA; Fry AE; Wraige E; Vasudevan PC; Balasubramanian M; Scheffer IE
Epilepsy Res; 2018 Feb; 140():166-170. PubMed ID: 29367179
[TBL] [Abstract][Full Text] [Related]
18. ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Woods E; Holmes N; Albaba S; Evans IR; Balasubramanian M
Clin Genet; 2024 May; 105(5):470-487. PubMed ID: 38420660
[TBL] [Abstract][Full Text] [Related]
19. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with
Balasubramanian M; Willoughby J; Fry AE; Weber A; Firth HV; Deshpande C; Berg JN; Chandler K; Metcalfe KA; Lam W; Pilz DT; Tomkins S
J Med Genet; 2017 Aug; 54(8):537-543. PubMed ID: 28100473
[TBL] [Abstract][Full Text] [Related]
20. [A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant].
Gao Z; Lyu Y; Zhang K; Gao M; Ma J; Wang D; Gai Z; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun; 37(6):661-664. PubMed ID: 32472547
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
