These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

110 related articles for article (PubMed ID: 32240828)

  • 1. A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction.
    Ekinci F; Yildizdas RD; Horoz OO; Herguner O; Bisgin A
    Eur J Med Genet; 2020 Jun; 63(6):103923. PubMed ID: 32240828
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.
    Aggarwal S; Bahal A; Dalal A
    Eur J Med Genet; 2016 Jan; 59(1):5-10. PubMed ID: 26689621
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
    O'Driscoll MC; Daly SB; Urquhart JE; Black GC; Pilz DT; Brockmann K; McEntagart M; Abdel-Salam G; Zaki M; Wolf NI; Ladda RL; Sell S; D'Arrigo S; Squier W; Dobyns WB; Livingston JH; Crow YJ
    Am J Hum Genet; 2010 Sep; 87(3):354-64. PubMed ID: 20727516
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
    Jenkinson EM; Livingston JH; O'Driscoll MC; Desguerre I; Nabbout R; Boddaert N; Soares G; Gonçalves da Rocha M; D'Arrigo S; Rice GI; Crow YJ
    Clin Genet; 2018 Feb; 93(2):228-234. PubMed ID: 28386946
    [TBL] [Abstract][Full Text] [Related]  

  • 5. OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.
    Oner TO; Unalp A; Hiz S; Bayram E; Kaytan I; Cingoz S
    Epileptic Disord; 2021 Dec; 23(6):843-853. PubMed ID: 34704946
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.
    Abdel-Hamid MS; Abdel-Salam GMH; Issa MY; Emam BA; Zaki MS
    J Hum Genet; 2017 Apr; 62(5):553-559. PubMed ID: 28179633
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel rearrangement of occludin causes brain calcification and renal dysfunction.
    LeBlanc MA; Penney LS; Gaston D; Shi Y; Aberg E; Nightingale M; Jiang H; Gillett RM; Fahiminiya S; Macgillivray C; Wood EP; Acott PD; Khan MN; Samuels ME; Majewski J; Orr A; McMaster CR; Bedard K
    Hum Genet; 2013 Nov; 132(11):1223-34. PubMed ID: 23793442
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Microcephaly and intracranial calcifications: Not always TORCH infection!
    Kumar G; Al Zoebie L; Duke C; Al Neyadi SM; Al Tenaiji A; ElGhazali G
    J Paediatr Child Health; 2019 Aug; 55(8):1000-1001. PubMed ID: 31386285
    [No Abstract]   [Full Text] [Related]  

  • 9. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
    Abdel-Salam GM; Abdel-Hamid MS; El-Khayat HA; Eid OM; Saba S; Farag MK; Saleem SN; Gaber KR
    Am J Med Genet A; 2015 May; 167A(5):1089-99. PubMed ID: 25755095
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital infection-like syndrome with intracranial calcification.
    Mizuno Y; Takahashi K; Igarashi T; Saito M; Mizuguchi M
    Brain Dev; 2011 Jun; 33(6):530-3. PubMed ID: 20926212
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex.
    Bendriem RM; Singh S; Aleem AA; Antonetti DA; Ross ME
    Elife; 2019 Dec; 8():. PubMed ID: 31794381
    [No Abstract]   [Full Text] [Related]  

  • 12. Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.
    Panigrahy N; Bakhru S; Lingappa L; Chirla D
    BMJ Case Rep; 2022 Dec; 15(12):. PubMed ID: 36581356
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
    Briggs TA; Wolf NI; D'Arrigo S; Ebinger F; Harting I; Dobyns WB; Livingston JH; Rice GI; Crooks D; Rowland-Hill CA; Squier W; Stoodley N; Pilz DT; Crow YJ
    Am J Med Genet A; 2008 Dec; 146A(24):3173-80. PubMed ID: 19012351
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Genetic syndromes that mimic congenital infections: report of 2 cases].
    Thibault M; Leydet J; Tournier-Lasserve E; Crow YJ; Rivier F; Echenne B; Langlois C; Daudet H; Sarda P; Roubertie A
    Arch Pediatr; 2011 Dec; 18(12):1297-1301. PubMed ID: 21963371
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria.
    Vivarelli R; Grosso S; Cioni M; Galluzzi P; Monti L; Morgese G; Balestri P
    Brain Dev; 2001 Mar; 23(1):18-23. PubMed ID: 11226724
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.
    Borges-Medeiros R; Mendes de Oliveira JR
    J Hum Genet; 2018 Feb; 63(2):255-256. PubMed ID: 29192239
    [No Abstract]   [Full Text] [Related]  

  • 17. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
    Meuwissen ME; Schot R; Buta S; Oudesluijs G; Tinschert S; Speer SD; Li Z; van Unen L; Heijsman D; Goldmann T; Lequin MH; Kros JM; Stam W; Hermann M; Willemsen R; Brouwer RW; Van IJcken WF; Martin-Fernandez M; de Coo I; Dudink J; de Vries FA; Bertoli Avella A; Prinz M; Crow YJ; Verheijen FW; Pellegrini S; Bogunovic D; Mancini GM
    J Exp Med; 2016 Jun; 213(7):1163-74. PubMed ID: 27325888
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Central diabetes insipidus due to herpes simplex in a patient immunosuppressed by Cushing's syndrome.
    Torres AM; Kazee AM; Simon H; Knudson PE; Weinstock RS
    Endocr Pract; 2000; 6(1):26-8. PubMed ID: 11419923
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hypoparathyroidism and central diabetes insipidus: in search of the link.
    Eyal O; Oren A; Jüppner H; Somech R; De Bellis A; Mannstadt M; Szalat A; Bleiberg M; Weisman Y; Weintrob N
    Eur J Pediatr; 2014 Dec; 173(12):1731-4. PubMed ID: 25367057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.
    Patnaik A; Mishra SS; Das S
    Asian J Neurosurg; 2017; 12(3):541-543. PubMed ID: 28761539
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.