133 related articles for article (PubMed ID: 36209351)
1. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK; Solivio B; Pode-Shakked B; Cross LA; Sullivan B; Raas-Rothschild A; Chorin O; Barel O; Bar-Yosef O; Husami A; Hopkin RJ; Prada CE; Stottmann RW; Weaver KN
Am J Med Genet A; 2022 Nov; 188(11):3262-3277. PubMed ID: 36209351
[TBL] [Abstract][Full Text] [Related]
2. Prenatal Diagnosis of
Lei T; Zhen L; Yang X; Pan M; Fu F; Han J; Li L; Li D; Liao C
Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672867
[No Abstract] [Full Text] [Related]
3. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L; Reynhout S; Verbinnen I; Laumonnier F; Toutain A; Bonnet-Brilhault F; Hoorne Y; Joss S; Chassevent AK; Smith-Hicks C; Loeys B; Joset P; Steindl K; Rauch A; Mehta SG; Chung WK; Devriendt K; Holder SE; Jewett T; Baldwin LM; Wilson WG; Towner S; Srivastava S; Johnson HF; Daumer-Haas C; Baethmann M; Ruiz A; Gabau E; Jain V; Varghese V; Al-Beshri A; Fulton S; Wechsberg O; Orenstein N; Prescott K; Childs AM; Faivre L; Moutton S; Sullivan JA; Shashi V; Koudijs SM; Heijligers M; Kivuva E; McTague A; Male A; van Ierland Y; Plecko B; Maystadt I; Hamid R; Hannig VL; Houge G; Janssens V
Genet Med; 2021 Feb; 23(2):352-362. PubMed ID: 33106617
[TBL] [Abstract][Full Text] [Related]
4.
Lee J; Yoo J; Lee S; Lee JW; Park EG
Ann Clin Lab Sci; 2023 Sep; 53(5):792-799. PubMed ID: 37945024
[TBL] [Abstract][Full Text] [Related]
5. A Newborn with Severe Ventriculomegaly: Expanding the
Wallace A; Caruso P; Karaa A
J Pediatr Genet; 2019 Dec; 8(4):240-243. PubMed ID: 31687265
[TBL] [Abstract][Full Text] [Related]
6. Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel
Roldán M; Nolasco GA; Armengol L; Frías M; Morell M; García-Aragonés M; Epifani F; Muchart J; Ramírez-Almaraz ML; Martorell L; Hernando-Davalillo C; Urreizti R; Serrano M
Int J Mol Sci; 2023 Sep; 24(18):. PubMed ID: 37762002
[TBL] [Abstract][Full Text] [Related]
7. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G; Haesen D; Vissers LE; Mehta S; Parker MJ; Wright M; Vogt J; McKee S; Tolmie JL; Cordeiro N; Kleefstra T; Willemsen MH; Reijnders MR; Berland S; Hayman E; Lahat E; Brilstra EH; van Gassen KL; Zonneveld-Huijssoon E; de Bie CI; Hoischen A; Eichler EE; Holdhus R; Steen VM; Døskeland SO; Hurles ME; FitzPatrick DR; Janssens V
J Clin Invest; 2015 Aug; 125(8):3051-62. PubMed ID: 26168268
[TBL] [Abstract][Full Text] [Related]
8. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
[TBL] [Abstract][Full Text] [Related]
9. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
[TBL] [Abstract][Full Text] [Related]
10. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A; Calabretta S; St-Onge J; Boudrahem-Addour N; Dionne-Laporte A; Joset P; Azzarello-Burri S; Rauch A; Krier J; Fieg E; Pallais JC; ; McConkie-Rosell A; McDonald M; Freedman SF; Rivière JB; Lafond-Lapalme J; Simpson BN; Hopkin RJ; Trimouille A; Van-Gils J; Begtrup A; McWalter K; Delphine H; Keren B; Genevieve D; Argilli E; Sherr EH; Severino M; Rouleau GA; Yam PT; Charron F; Srour M
Am J Hum Genet; 2019 Oct; 105(4):854-868. PubMed ID: 31585109
[TBL] [Abstract][Full Text] [Related]
11. Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.
Qian Y; Jiang Y; Wang J; Li G; Wu B; Zhou Y; Xu X; Wang H
Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761890
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bostwick BL; McLean S; Posey JE; Streff HE; Gripp KW; Blesson A; Powell-Hamilton N; Tusi J; Stevenson DA; Farrelly E; Hudgins L; Yang Y; Xia F; Wang X; Liu P; Walkiewicz M; McGuire M; Grange DK; Andrews MV; Hummel M; Madan-Khetarpal S; Infante E; Coban-Akdemir Z; Miszalski-Jamka K; Jefferies JL; ; Rosenfeld JA; Emrick L; Nugent KM; Lupski JR; Belmont JW; Lee B; Lalani SR
Genome Med; 2017 Aug; 9(1):73. PubMed ID: 28807008
[TBL] [Abstract][Full Text] [Related]
13. PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.
Biswas D; Cary W; Nolta JA
Int J Mol Sci; 2020 Feb; 21(4):. PubMed ID: 32074998
[TBL] [Abstract][Full Text] [Related]
14. Refractory Epilepsy in a Toddler With PPP2R1A Gene Mutation and Congenital Hydrocephalus.
Ruxmohan S; Quinonez J; Yadav RS; Shrestha S; Poudel S; Stein JD
Cureus; 2021 Nov; 13(11):e19988. PubMed ID: 34984142
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Taylor J; Spiller M; Ranguin K; Vitobello A; Philippe C; Bruel AL; Cappuccio G; Brunetti-Pierri N; Willems M; Isidor B; Park K; Balasubramanian M
Am J Med Genet A; 2022 May; 188(5):1497-1514. PubMed ID: 35138025
[TBL] [Abstract][Full Text] [Related]
16. Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Verbinnen I; Vaneynde P; Reynhout S; Lenaerts L; Derua R; Houge G; Janssens V
Biochem Soc Trans; 2021 Aug; 49(4):1567-1588. PubMed ID: 34241636
[TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
Lam Z; Wall E; Ryan G; Barber R; Kilby MD; Williams DK
Prenat Diagn; 2023 Aug; 43(9):1247-1250. PubMed ID: 37409888
[TBL] [Abstract][Full Text] [Related]
18. [A case of central nervous system anomalies (agenesis of corpus callosum, colpocephaly, hydrocephalus, congenital dermal sinus) associated with congenital heart disease(double-outlet right ventricle, complete endocardial cushion defect, atrial septal defect, pulmonary arterial stenosis, patent ductus arteriosus)].
Oyama H; Numaguchi A; Sakurai H; Ichihara K; Ikeda A; Matsushima M; Maeda M; Inoue S; Iizuka H; Endoh O; Shibuya M
No To Shinkei; 2001 Feb; 53(2):179-84. PubMed ID: 11268583
[TBL] [Abstract][Full Text] [Related]
19. Clinical, neuroimaging and molecular characteristics of
Oyama N; Vaneynde P; Reynhout S; Pao EM; Timms A; Fan X; Foss K; Derua R; Janssens V; Chung W; Mirzaa GM
J Med Genet; 2023 May; 60(5):511-522. PubMed ID: 36216457
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
