134 related articles for article (PubMed ID: 35211951)
1. PURA syndrome in a child with severe developmental delay: a challenging diagnosis.
Nogueira M; Melo C; Grangeia A; Magalhães T; Soares C; Dias R; Fonseca J; Sampaio M; Sousa R
Rev Neurol; 2022 Mar; 74(5):170-173. PubMed ID: 35211951
[TBL] [Abstract][Full Text] [Related]
2. Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V; Ciaccio C; Venturini M; Masson R; Ritelli M; Colombi M
Mol Genet Genomic Med; 2021 Jan; 9(1):e1562. PubMed ID: 33275834
[TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
Hunt D; Leventer RJ; Simons C; Taft R; Swoboda KJ; Gawne-Cain M; ; Magee AC; Turnpenny PD; Baralle D
J Med Genet; 2014 Dec; 51(12):806-13. PubMed ID: 25342064
[TBL] [Abstract][Full Text] [Related]
4. A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.
Ben Issa A; Ben Ayed I; Jallouli O; Souissi A; Bouchaalla W; Ben Said M; Mallouli S; Masmoudi S; Charfi Triki C; Hadj Kacem H; Kammoun F
Int J Dev Neurosci; 2023 Jun; 83(4):383-395. PubMed ID: 37204304
[TBL] [Abstract][Full Text] [Related]
5. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
[TBL] [Abstract][Full Text] [Related]
6. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF; Janowski R; Alvi M; Self JE; van Essen TJ; Vreeburg M; Rouhl RPW; Stevens SJC; Stegmann APA; Schieving J; Pfundt R; van Dijk K; Smeets E; Stumpel CTRM; Bok LA; Cobben JM; Engelen M; Mansour S; Whiteford M; Chandler KE; Douzgou S; Cooper NS; Tan EC; Foo R; Lai AHM; Rankin J; Green A; Lönnqvist T; Isohanni P; Williams S; Ruhoy I; Carvalho KS; Dowling JJ; Lev DL; Sterbova K; Lassuthova P; Neupauerová J; Waugh JL; Keros S; Clayton-Smith J; Smithson SF; Brunner HG; van Hoeckel C; Anderson M; Clowes VE; Siu VM; Ddd Study T; Selber P; Leventer RJ; Nellaker C; Niessing D; Hunt D; Baralle D
J Med Genet; 2018 Feb; 55(2):104-113. PubMed ID: 29097605
[TBL] [Abstract][Full Text] [Related]
7. Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee BH; Reijnders MRF; Abubakare O; Tuttle E; Lape B; Minks KQ; Stodgell C; Bennetto L; Kwon J; Fong CT; Gripp KW; Marsh ED; Smith WE; Huq AM; Coury SA; Tan WH; Solis O; Mehta RI; Leventer RJ; Baralle D; Hunt D; Paciorkowski AR
Am J Med Genet A; 2018 Jan; 176(1):56-67. PubMed ID: 29150892
[TBL] [Abstract][Full Text] [Related]
8. A novel
Rodríguez-García ME; Cotrina-Vinagre FJ; Arranz-Canales E; Aragón AM; Hernández-Sánchez L; Rodríguez-Fornés F; Carnicero-Rodríguez P; Morales-Conejo M; Martín-Hernández E; Martínez-Azorín F
J Genet; 2020; 99():. PubMed ID: 32089526
[TBL] [Abstract][Full Text] [Related]
9. A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W; Sun Y; Fan Y; Gao Y; Zhan Y; Wang L; Xiao B; Qiu W; Gu X; Sun K; Yu Y; Xu N
Eur J Hum Genet; 2023 Jan; 31(1):112-121. PubMed ID: 36376392
[TBL] [Abstract][Full Text] [Related]
10. Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.
Mishra S; Girisha KM; Shukla A
Clin Dysmorphol; 2021 Jan; 30(1):1-5. PubMed ID: 33229923
[TBL] [Abstract][Full Text] [Related]
11. Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.
Solazzi R; Fiorini E; Parrini E; Guerrini R; Bernardina BD; Nardocci N; Cantalupo G
Epileptic Disord; 2021 Oct; 23(5):745-748. PubMed ID: 34583915
[TBL] [Abstract][Full Text] [Related]
12. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.
Qashqari H; McNiven V; Gonorazky H; Mendoza-Londono R; Hassan A; Kulkarni T; Amburgey K; Dowling JJ
Neuromuscul Disord; 2022 Oct; 32(10):842-844. PubMed ID: 36210261
[TBL] [Abstract][Full Text] [Related]
13. Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M; Zafeiriou D; Gurgel-Gianetti J; Vilela Morais de Azevedo B; Roos A; Bartels E; Kohlschmidt N; Phadke R; Feng L; Duff J; Töpf A; Straub V
Neuropediatrics; 2021 Oct; 52(5):390-393. PubMed ID: 33352606
[TBL] [Abstract][Full Text] [Related]
14. Patient with a novel purine-rich element binding protein A mutation.
Okamoto N; Nakao H; Niihori T; Aoki Y
Congenit Anom (Kyoto); 2017 Nov; 57(6):201-204. PubMed ID: 28164378
[TBL] [Abstract][Full Text] [Related]
15. Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.
Mroczek M; Iyadurai S
Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36768582
[TBL] [Abstract][Full Text] [Related]
16. Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine.
Wyrebek R; DiBartolomeo M; Brooks S; Geller T; Crenshaw M; Iyadurai S
Neuromuscul Disord; 2022 Feb; 32(2):166-169. PubMed ID: 35094889
[TBL] [Abstract][Full Text] [Related]
17. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
18. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
[TBL] [Abstract][Full Text] [Related]
19. Expansion of
Boczek NJ; Macke EL; Kemppainen J; Klee EW; Renaud DL; Gavrilova RH
Child Neurol Open; 2020; 7():2329048X20955003. PubMed ID: 33117858
[TBL] [Abstract][Full Text] [Related]
20. A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
Yi Z; Song Z; Li F; Yang C; Xue J; Li L; Zhang M; Zhang Y
Int J Dev Neurosci; 2022 May; 82(3):271-276. PubMed ID: 35080253
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
