167 related articles for article (PubMed ID: 38037515)
1. Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li D; Zhou B; Tian X; Chen X; Wang Y; Hao S; Zhang C; Hui L
Mol Genet Genomic Med; 2024 Jan; 12(1):e2327. PubMed ID: 38037515
[TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L
Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157
[TBL] [Abstract][Full Text] [Related]
3. Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.
Chen X; Han Y; Li X; Huang S; Yuan H; Qin Y
Front Pediatr; 2023; 11():967701. PubMed ID: 37020656
[TBL] [Abstract][Full Text] [Related]
4. Splicing Interruption by Intron Variants in
Zhang W; Ye F; Chen S; Peng J; Pang N; Yin F
Front Neurosci; 2022; 16():892768. PubMed ID: 35774559
[No Abstract] [Full Text] [Related]
5. Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A; Santangelo A; Bravin F; Bonuccelli A; Peroni D; Battini R; Foiadelli T; Bertini V; Valetto A; Iacomino M; Nigro V; Torella AL; Scala M; Capra V; Vari MS; Fetta A; Di Pisa V; Montanari F; Epifanio R; Bonanni P; Giorda R; Operto F; Pastorino G; Sarigecili E; Sardaroglu E; Okuyaz C; Bozdogan S; Musante L; Faletra F; Zanus C; Ferretti A; Vigevano F; Striano P; Cordelli DM
Genes (Basel); 2022 Jan; 13(2):. PubMed ID: 35205321
[TBL] [Abstract][Full Text] [Related]
6.
Yang Q; Zhang Q; Yi S; Qin Z; Shen F; Ou S; Luo J; He S
Front Neurol; 2022; 13():811092. PubMed ID: 35370893
[TBL] [Abstract][Full Text] [Related]
7. [De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report].
Zhang J; Li Y; Luo H; Shen Y; Yuan M; Yang Z; Gan J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):484-487. PubMed ID: 35598262
[TBL] [Abstract][Full Text] [Related]
8. Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Trivisano M; Dominicis A; Stregapede F; Quintavalle C; Micalizzi A; Cappelletti S; Dentici ML; Sinibaldi L; Calabrese C; Terracciano A; Vigevano F; Novelli A; Specchio N
Epilepsy Behav; 2023 Oct; 147():109436. PubMed ID: 37717460
[TBL] [Abstract][Full Text] [Related]
9. Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of
Di Stazio M; Zanus C; Faletra F; Pesaresi A; Ziccardi I; Morgan A; Girotto G; Costa P; Carrozzi M; d'Adamo AP; Musante L
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833176
[No Abstract] [Full Text] [Related]
10. Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Selvam P; Jain A; Cheema A; Atwal H; Forghani I; Atwal PS
Am J Med Genet A; 2021 Feb; 185(2):539-543. PubMed ID: 33166063
[TBL] [Abstract][Full Text] [Related]
11. Two different presentations of de novo variants of CSNK2B: two case reports.
Wilke MVMB; Oliveira BM; Pereira A; Doriqui MJR; Kok F; Souza CFM
J Med Case Rep; 2022 Jan; 16(1):4. PubMed ID: 34983633
[TBL] [Abstract][Full Text] [Related]
12.
Asif M; Kaygusuz E; Shinawi M; Nickelsen A; Hsieh TC; Wagle P; Budde BS; Hochscherf J; Abdullah U; Höning S; Nienberg C; Lindenblatt D; Noegel AA; Altmüller J; Thiele H; Motameny S; Fleischer N; Segal I; Pais L; Tinschert S; Samra NN; Savatt JM; Rudy NL; De Luca C; ; Paola Fortugno ; White SM; Krawitz P; Hurst ACE; Niefind K; Jose J; Brancati F; Nürnberg P; Hussain MS
HGG Adv; 2022 Jul; 3(3):100111. PubMed ID: 35571680
[No Abstract] [Full Text] [Related]
13. Predictive functional, statistical and structural analysis of
Unni P; Friend J; Weinberg J; Okur V; Hochscherf J; Dominguez I
Front Mol Biosci; 2022; 9():851547. PubMed ID: 36310603
[TBL] [Abstract][Full Text] [Related]
14. Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P; Baggio M; Duma GM; Negrin S; Danieli A; Giorda R
Seizure; 2021 Dec; 93():133-139. PubMed ID: 34740143
[TBL] [Abstract][Full Text] [Related]
15. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
16. De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
Huang X; Rui X; Zhang S; Qi X; Rong W; Sheng X
BMC Med Genomics; 2023 Apr; 16(1):84. PubMed ID: 37085840
[TBL] [Abstract][Full Text] [Related]
17. [Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].
Wu R; Tang W; Qiu K; Zhang X; Meng Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun; 39(6):630-633. PubMed ID: 35773769
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
19. [Genetic analysis of a family with BCL11A-related intellectual disability].
Liu A; Hu Y; Chong B; Zheng S; Li L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):42-46. PubMed ID: 36584999
[TBL] [Abstract][Full Text] [Related]
20. Identification of two novel and one rare mutation in
Huang C; Luo H; Zeng B; Feng C; Chen J; Yuan H; Huang S; Yang B; Zou Y; Liu Y
Front Genet; 2023; 14():1290949. PubMed ID: 38179410
[No Abstract] [Full Text] [Related]
[Next] [New Search]
