BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 37347056)

  • 1. Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review.
    Wu Y; Wu D; Lan Y; Lan S; Li D; Zheng Z; Wang H; Ma L
    Front Genet; 2023; 14():1025390. PubMed ID: 37347056
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
    Ben Khelifa H; Soyah N; Ben-Abdallah-Bouhjar I; Gritly R; Sanlaville D; Elghezal H; Saad A; Mougou-Zerelli S
    Gene; 2013 Sep; 527(2):578-83. PubMed ID: 23791652
    [TBL] [Abstract][Full Text] [Related]  

  • 3. X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.
    Myers KA; Simard-Tremblay E; Saint-Martin C
    Pediatr Neurol; 2020 Jul; 108():113-116. PubMed ID: 32299744
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis.
    Tang X; Wang Z; Yang S; Chen M; Zhang Y; Zhang F; Tan J; Yin T; Wang L
    Front Genet; 2022; 13():934952. PubMed ID: 36118896
    [No Abstract]   [Full Text] [Related]  

  • 5. Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis.
    Cuevas-Covarrubias SA; González-Huerta LM
    Br J Dermatol; 2008 Mar; 158(3):483-6. PubMed ID: 18076704
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
    Zhuang J; Wang Y; Zeng S; Lv C; Lin Y; Jiang Y
    Mol Cytogenet; 2019; 12():50. PubMed ID: 31857824
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
    Hu H; Huang Y; Hou R; Xu H; Liu Y; Liao X; Xu J; Jiang L; Wang D
    BMC Med Genomics; 2023 Apr; 16(1):69. PubMed ID: 37013593
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.
    Ma W; Mao J; Wang X; Duan L; Song Y; Lian X; Zheng J; Liu Z; Nie M; Wu X
    Front Genet; 2020; 11():596. PubMed ID: 32670353
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
    Afzal S; Ramzan K; Ullah S; Wakil SM; Jamal A; Basit S; Waqar AB
    BMC Med Genet; 2020 Jan; 21(1):20. PubMed ID: 32005174
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.
    Labonne JDJ; Driessen TM; Harris ME; Kong IK; Brakta S; Theisen J; Sangare M; Layman LC; Kim CH; Lim J; Kim HG
    J Clin Med; 2020 Jan; 9(1):. PubMed ID: 31963867
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
    van Steensel MA; Vreeburg M; Engelen J; Ghesquiere S; Stegmann AP; Herbergs J; van Lent J; Smeets B; Vles JH
    Am J Med Genet A; 2008 Nov; 146A(22):2944-9. PubMed ID: 18925676
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.
    Nagai K; Shima H; Kamimura M; Kanno J; Suzuki E; Ishiguro A; Narumi S; Kure S; Fujiwara I; Fukami M
    Cytogenet Genome Res; 2017; 151(1):1-4. PubMed ID: 28253503
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    Park J; Cho YG; Kim JK; Kim HH
    Genes (Basel); 2023 Oct; 14(10):. PubMed ID: 37895274
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion].
    Carrascosa-Romero MC; Suela J; Alfaro-Ponce B; Cepillo-Boluda AJ
    Rev Neurol; 2012 Feb; 54(4):241-8. PubMed ID: 22314765
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
    Gohlke BC; Haug K; Fukami M; Friedl W; Noeker M; Rappold GA; Haverkamp F
    J Med Genet; 2000 Aug; 37(8):600-2. PubMed ID: 10922387
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
    Bai J; Qu Y; Cao Y; Li Y; Zhang W; Jin Y; Wang H; Song F
    Mol Med Rep; 2016 Feb; 13(2):1135-40. PubMed ID: 26676689
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
    Van Esch H; Hollanders K; Badisco L; Melotte C; Van Hummelen P; Vermeesch JR; Devriendt K; Fryns JP; Marynen P; Froyen G
    Hum Mol Genet; 2005 Jul; 14(13):1795-803. PubMed ID: 15888481
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.
    Mochel F; Missirian C; Reynaud R; Moncla A
    Eur J Med Genet; 2008; 51(1):68-73. PubMed ID: 18194880
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.
    Hung C; Ayabe RI; Wang C; Frausto RF; Aldave AJ
    Cornea; 2013 Sep; 32(9):1283-7. PubMed ID: 23807007
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
    Li D; Tekin M; Buch M; Fan YS
    Mol Cytogenet; 2012 Apr; 5(1):18. PubMed ID: 22487416
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.