These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
128 related articles for article (PubMed ID: 29628764)
21. 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]
22. [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]
23. [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]
24. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. Khan TR; Dolce A; Goodspeed K BMC Neurol; 2022 Feb; 22(1):60. PubMed ID: 35172777 [TBL] [Abstract][Full Text] [Related]
25. [Report of a child with Bainbridge-Ropers syndrome due to a novel variant of ASXL3 gene and a literature review]. Jiang Y; Li R; Li X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug; 41(8):966-972. PubMed ID: 39097281 [TBL] [Abstract][Full Text] [Related]
26. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. Qiao L; Liu Y; Ge J; Li T Indian Pediatr; 2019 Sep; 56(9):792-794. PubMed ID: 31638014 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. [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]
29. A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia? Verhoeven W; Egger J; Kipp J; Verheul-Aan de Wiel J; Ockeloen C; Kleefstra T; Pfundt R Mol Genet Genomic Med; 2019 Aug; 7(8):e849. PubMed ID: 31290275 [TBL] [Abstract][Full Text] [Related]
30. Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Cuddapah VA; Dubbs HA; Adang L; Kugler SL; McCormick EM; Zolkipli-Cunningham Z; Ortiz-González XR; McCormack S; Zackai E; Licht DJ; Falk MJ; Marsh ED Am J Med Genet A; 2021 Jun; 185(6):1700-1711. PubMed ID: 33751773 [TBL] [Abstract][Full Text] [Related]
32. [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]
33. Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3). Ayoub MC; Anderson JT; Russell BE; Wilson RB Front Neurosci; 2023; 17():1244176. PubMed ID: 38027485 [TBL] [Abstract][Full Text] [Related]
34. Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy. Han JY; Lee IG; Jang W; Kim M; Kim Y; Jang JH; Park J Eur J Med Genet; 2017 Oct; 60(10):559-564. PubMed ID: 28807762 [TBL] [Abstract][Full Text] [Related]
35. Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments. Scheithauer M; Bernstein A; Stremel JM Behav Anal Pract; 2023 Jun; 16(2):611-616. PubMed ID: 36249891 [TBL] [Abstract][Full Text] [Related]
36. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH Mol Autism; 2019; 10():35. PubMed ID: 31649809 [TBL] [Abstract][Full Text] [Related]
37. A de novo Verhoeven WMA; Egger JIM; Jongbloed RE; van Putten MM; de Bruin-van Zandwijk M; Zwemer AS; Pfundt R; Willemsen MH Int Med Case Rep J; 2020; 13():487-492. PubMed ID: 33116939 [TBL] [Abstract][Full Text] [Related]
38. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131 [TBL] [Abstract][Full Text] [Related]
39. Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the Verhoeven W; Zuijdam J; Scheick A; van Nieuwenhuijsen F; Zwemer AS; Pfundt R; Egger J Int Med Case Rep J; 2022; 15():753-759. PubMed ID: 36582431 [TBL] [Abstract][Full Text] [Related]
40. Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. Contreras-Capetillo SN; Vilchis-Zapata ZH; Ribbón-Conde J; Pinto-Escalante D Neurologia (Engl Ed); 2018 Sep; 33(7):484-486. PubMed ID: 28431838 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]