130 related articles for article (PubMed ID: 32485717)
1. Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN; Kashevarova AA; Nazarenko LP; Minaycheva LI; Skryabin NA; Lopatkina ME; Nikitina TV; Sazhenova EA; Belyaeva EO; Fonova EA; Salyukova OA; Tarabykin VS; Lebedev IN
Cytogenet Genome Res; 2020; 160(5):245-254. PubMed ID: 32485717
[TBL] [Abstract][Full Text] [Related]
2. UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
Thunstrom S; Sodermark L; Ivarsson L; Samuelsson L; Stefanova M
Am J Med Genet A; 2015 Jan; 167A(1):204-10. PubMed ID: 25287747
[TBL] [Abstract][Full Text] [Related]
3. The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the
Wolańska E; Pollak A; Rydzanicz M; Pesz K; Kłaniewska M; Rozensztrauch A; Skiba P; Stawiński P; Płoski R; Śmigiel R
Genes (Basel); 2021 Feb; 12(3):. PubMed ID: 33673493
[TBL] [Abstract][Full Text] [Related]
4. The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Vandewalle J; Bauters M; Van Esch H; Belet S; Verbeeck J; Fieremans N; Holvoet M; Vento J; Spreiz A; Kotzot D; Haberlandt E; Rosenfeld J; Andrieux J; Delobel B; Dehouck MB; Devriendt K; Fryns JP; Marynen P; Goldstein A; Froyen G
Hum Genet; 2013 Oct; 132(10):1177-85. PubMed ID: 23783460
[TBL] [Abstract][Full Text] [Related]
5. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N; Bulk S; Green A; Jaeckle-Santos L; Baker LA; Zinn AR; Kleefstra T; van der Smagt JJ; Vianne Morgante AM; de Vries BB; van Bokhoven H; de Brouwer AP
Am J Med Genet A; 2010 Dec; 152A(12):3084-90. PubMed ID: 21108393
[TBL] [Abstract][Full Text] [Related]
6. Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
Honda S; Orii KO; Kobayashi J; Hayashi S; Imamura A; Imoto I; Nakagawa E; Goto Y; Inazawa J
J Hum Genet; 2010 Apr; 55(4):244-7. PubMed ID: 20339384
[TBL] [Abstract][Full Text] [Related]
7. Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.
Fonova EA; Tolmacheva EN; Kashevarova AA; Sazhenova EA; Nikitina TV; Lopatkina ME; Vasilyeva OY; Zarubin AА; Aleksandrova TN; Yuriev SY; Skryabin NA; Stepanov VA; Lebedev IN
Cytogenet Genome Res; 2022; 162(3):97-108. PubMed ID: 35636401
[TBL] [Abstract][Full Text] [Related]
8. Intragenomic Conflict and Immune Tolerance: Do Selfish X-Linked Alleles Drive Skewed X Chromosome Inactivation?
Roy SW
Genome Biol Evol; 2018 Mar; 10(3):857-862. PubMed ID: 29092048
[TBL] [Abstract][Full Text] [Related]
9. Association of skewed X chromosome inactivation and idiopathic recurrent spontaneous abortion: a systematic review and meta-analysis.
Sui Y; Chen Q; Sun X
Reprod Biomed Online; 2015 Aug; 31(2):140-8. PubMed ID: 26096034
[TBL] [Abstract][Full Text] [Related]
10. A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
Jia W; Hu Q; Wu Y; Wang J; Liu Z; Zhang X
J Gene Med; 2020 Aug; 22(8):e3191. PubMed ID: 32222108
[TBL] [Abstract][Full Text] [Related]
11. X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC; Bauer P; Buiting K; Dufke C; Guillén-Navarro E; Johnson DS; Koehler U; López-González V; Lüdecke HJ; Male A; Morrogh D; Rieß A; Tzschach A; Wieczorek D; Kuechler A
Orphanet J Rare Dis; 2013 Sep; 8():146. PubMed ID: 24053514
[TBL] [Abstract][Full Text] [Related]
12. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
Grau C; Starkovich M; Azamian MS; Xia F; Cheung SW; Evans P; Henderson A; Lalani SR; Scott DA
PLoS One; 2017; 12(4):e0175962. PubMed ID: 28414775
[TBL] [Abstract][Full Text] [Related]
13. An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
Bruinsma CF; Savelberg SM; Kool MJ; Jolfaei MA; Van Woerden GM; Baarends WM; Elgersma Y
Hum Mol Genet; 2016 Jan; 25(1):1-8. PubMed ID: 26476408
[TBL] [Abstract][Full Text] [Related]
14. Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study.
Sui Y; Fu J; Zhang S; Li L; Sun X
BMC Pregnancy Childbirth; 2022 Nov; 22(1):805. PubMed ID: 36324098
[TBL] [Abstract][Full Text] [Related]
15. Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V; Macke EL; Radio FC; Lo Cicero S; Pantaleoni F; Tatti M; Bellacchio E; Ciolfi A; Agolini E; Bruselles A; Brunetti-Pierri N; Suri M; Josephs KS; McEntagart M; Lanpher B; Nickels KC; Haworth A; Reed L; Cappuccio G; Mammi I; Tarnowski JM; Novelli A; ; Melis D; Callewaert B; Dallapiccola B; Klee E; Tartaglia M
Clin Genet; 2020 Aug; 98(2):172-178. PubMed ID: 32415735
[TBL] [Abstract][Full Text] [Related]
16. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
El-Hattab AW; Schaaf CP; Fang P; Roeder E; Kimonis VE; Church JA; Patel A; Cheung SW
BMC Med Genet; 2015 Mar; 16():12. PubMed ID: 25927380
[TBL] [Abstract][Full Text] [Related]
17. Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
Mason JA; Aung HT; Nandini A; Woods RG; Fairbairn DJ; Rowell JA; Young D; Susman RD; Brown SA; Hyland VJ; Robertson JD
Mol Genet Genomic Med; 2018 May; 6(3):357-369. PubMed ID: 29490426
[TBL] [Abstract][Full Text] [Related]
18. [X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].
Jiang SL; Bao XH; Song FY; Pan H; Li MR; Wu XR
Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):648-52. PubMed ID: 17217653
[TBL] [Abstract][Full Text] [Related]
19. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Probst FJ; Roeder ER; Enciso VB; Ou Z; Cooper ML; Eng P; Li J; Gu Y; Stratton RF; Chinault AC; Shaw CA; Sutton VR; Cheung SW; Nelson DL
Am J Med Genet A; 2007 Jun; 143A(12):1358-65. PubMed ID: 17506108
[TBL] [Abstract][Full Text] [Related]
20. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.
Poreau B; Ramond F; Harbuz R; Satre V; Barro C; Vettier C; Adouard V; Thevenon J; Jouk PS; Coutton C; Touraine R; Dieterich K
Am J Med Genet A; 2019 Apr; 179(4):650-654. PubMed ID: 30737907
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
