BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 29960046)

  • 1. Expanding the phenotypic spectrum associated with OPHN1 variants.
    Schwartz TS; Wojcik MH; Pelletier RC; Edward HL; Picker JD; Holm IA; Towne MC; Beggs AH; Agrawal PB
    Eur J Med Genet; 2019 Feb; 62(2):137-143. PubMed ID: 29960046
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
    Moortgat S; Lederer D; Deprez M; Buzatu M; Clapuyt P; Boulanger S; Benoit V; Mary S; Guichet A; Ziegler A; Colin E; Bonneau D; Maystadt I
    Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
    Nuovo S; Brankovic V; Caputi C; Casella A; Nigro V; Leuzzi V; Valente EM
    Am J Med Genet A; 2021 May; 185(5):1575-1581. PubMed ID: 33638601
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
    Wieland I; Weidner C; Ciccone R; Lapi E; McDonald-McGinn D; Kress W; Jakubiczka S; Collmann H; Zuffardi O; Zackai E; Wieacker P
    Clin Genet; 2007 Dec; 72(6):506-16. PubMed ID: 17941886
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.
    Rocas D; Alix E; Michel J; Cordier MP; Labalme A; Guilbert H; Till M; Schluth-Bolard C; de Haas P; Massardier J; Portes Vd; Edery P; Touraine R; Guibaud L; Vasiljevic A; Sanlaville D
    Eur J Med Genet; 2013 May; 56(5):270-3. PubMed ID: 23416624
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
    Chabrol B; Girard N; N'Guyen K; Gérard A; Carlier M; Villard L; Philip N
    Am J Med Genet A; 2005 Nov; 138(4):314-7. PubMed ID: 16158428
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
    [TBL] [Abstract][Full Text] [Related]  

  • 8. BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
    Prasad M; Balci TB; Prasad C; Andrews JD; Lee R; Jurkiewicz MT; Napier MP; Colaiacovo S; Guillen Sacoto MJ; Karp N
    Eur J Med Genet; 2020 Sep; 63(9):104007. PubMed ID: 32659295
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
    Santos-Rebouças CB; Belet S; Guedes de Almeida L; Ribeiro MG; Medina-Acosta E; Bahia PR; Alves da Silva AF; Lima dos Santos F; Borges de Lacerda GC; Pimentel MM; Froyen G
    Eur J Hum Genet; 2014 May; 22(5):644-51. PubMed ID: 24105372
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.
    Bedeschi MF; Novelli A; Bernardini L; Parazzini C; Bianchi V; Torres B; Natacci F; Giuffrida MG; Ficarazzi P; Dallapiccola B; Lalatta F
    Am J Med Genet A; 2008 Jul; 146A(13):1718-24. PubMed ID: 18512229
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
    Faergeman SL; Bojesen AB; Rasmussen M; Becher N; Andreasen L; Andersen BN; Erbs E; Lildballe DL; Nielsen JEK; Zilmer M; Hammer TB; Andersen MØ; Brasch-Andersen C; Fagerberg CR; Illum NO; Thorup MB; Gregersen PA
    Eur J Med Genet; 2021 Sep; 64(9):104280. PubMed ID: 34229113
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
    Al-Owain M; Kaya N; Al-Zaidan H; Al-Hashmi N; Al-Bakheet A; Al-Muhaizea M; Chedrawi A; Basran RK; Milunsky A
    Clin Genet; 2011 Apr; 79(4):363-70. PubMed ID: 20528889
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
    Bergmann C; Zerres K; Senderek J; Rudnik-Schoneborn S; Eggermann T; Häusler M; Mull M; Ramaekers VT
    Brain; 2003 Jul; 126(Pt 7):1537-44. PubMed ID: 12805098
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
    Compagnucci C; Barresi S; Petrini S; Billuart P; Piccini G; Chiurazzi P; Alfieri P; Bertini E; Zanni G
    Stem Cells Transl Med; 2016 Jul; 5(7):860-9. PubMed ID: 27160703
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
    Balasubramanian M; Johnson DS;
    Eur J Med Genet; 2019 Feb; 62(2):109-114. PubMed ID: 29908352
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
    Balasubramanian M; Dingemans AJM; Albaba S; Richardson R; Yates TM; Cox H; Douzgou S; Armstrong R; Sansbury FH; Burke KB; Fry AE; Ragge N; Sharif S; Foster A; De Sandre-Giovannoli A; Elouej S; Vasudevan P; Mansour S; Wilson K; Stewart H; Heide S; Nava C; Keren B; Demirdas S; Brooks AS; Vincent M; Isidor B; Küry S; Schouten M; Leenders E; Chung WK; Haeringen AV; Scheffner T; Debray FG; White SM; Palafoll MIV; Pfundt R; Newbury-Ecob R; Kleefstra T
    Eur J Hum Genet; 2021 Apr; 29(4):625-636. PubMed ID: 33437032
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
    Qiao Y; Bagheri H; Tang F; Badduke C; Martell S; Lewis SME; Robinson W; Connolly MB; Arbour L; Rajcan-Separovic E
    Eur J Med Genet; 2019 Feb; 62(2):103-108. PubMed ID: 29908350
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM; Larsen MJ; Brasch-Andersen C; Krogh LN; Kibæk M; Laulund L; Illum N; Dunkhase-Heinl U; Wiesener A; Popp B; Marangi G; Hjortshøj TD; Ek J; Vogel I; Becher N; Roos L; Zollino M; Fagerberg CR
    Eur J Med Genet; 2019 Feb; 62(2):129-136. PubMed ID: 29959045
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report.
    Bogliş A; Cosma AS; Tripon F; Bãnescu C
    Medicine (Baltimore); 2020 Aug; 99(33):e21632. PubMed ID: 32872024
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.
    Redolfi N; Galla L; Maset A; Murru L; Savoia E; Zamparo I; Gritti A; Billuart P; Passafaro M; Lodovichi C
    Hum Mol Genet; 2016 Dec; 25(23):5198-5211. PubMed ID: 27742778
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.