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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

132 related items for PubMed ID: 34041787

  • 1. A case report of PHF6 mosaicism: Beyond the classic Börjeson-Forssman-Lehmann syndrome.
    Garcia-Melendo C, Roé E, Rodríguez-Santiago B, Amat-Samaranch V, Cubiró X, Puig L, Boronat S.
    Pediatr Dermatol; 2021 Jul; 38(4):919-925. PubMed ID: 34041787
    [Abstract] [Full Text] [Related]

  • 2. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
    Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D.
    J Med Genet; 2013 Dec; 50(12):838-47. PubMed ID: 24092917
    [Abstract] [Full Text] [Related]

  • 3. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
    Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
    [Abstract] [Full Text] [Related]

  • 4. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.
    Jahani-Asl A, Cheng C, Zhang C, Bonni A.
    Neurobiol Dis; 2016 Dec; 96():227-235. PubMed ID: 27633282
    [Abstract] [Full Text] [Related]

  • 5. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
    Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C.
    Clin Genet; 2022 Sep; 102(3):182-190. PubMed ID: 35662002
    [Abstract] [Full Text] [Related]

  • 6. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
    Carter MT, Picketts DJ, Hunter AG, Graham GE.
    Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141
    [Abstract] [Full Text] [Related]

  • 7. Distinct phenotype of PHF6 deletions in females.
    Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.
    Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
    [Abstract] [Full Text] [Related]

  • 8. [A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].
    Que YX, Li P, Hu SX.
    Zhonghua Er Ke Za Zhi; 2021 May 02; 59(5):414-416. PubMed ID: 33902228
    [Abstract] [Full Text] [Related]

  • 9. A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.
    Zhang X, Fan Y, Liu X, Zhu MA, Sun Y, Yan H, He Y, Ye X, Gu X, Yu Y.
    J Clin Res Pediatr Endocrinol; 2019 Nov 22; 11(4):419-425. PubMed ID: 30630810
    [Abstract] [Full Text] [Related]

  • 10. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
    Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C.
    Epilepsy Behav; 2017 Apr 22; 69():104-109. PubMed ID: 28237832
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
    Liu Z, Li F, Ruan K, Zhang J, Mei Y, Wu J, Shi Y.
    J Biol Chem; 2014 Apr 04; 289(14):10069-83. PubMed ID: 24554700
    [Abstract] [Full Text] [Related]

  • 13. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.
    Cheng C, Deng PY, Ikeuchi Y, Yuede C, Li D, Rensing N, Huang J, Baldridge D, Maloney SE, Dougherty JD, Constantino J, Jahani-Asl A, Wong M, Wozniak DF, Wang T, Klyachko VA, Bonni A.
    Cell Rep; 2018 Nov 06; 25(6):1404-1414.e6. PubMed ID: 30403997
    [Abstract] [Full Text] [Related]

  • 14. Börjeson-Forssman-Lehmann syndrome: A case report.
    Pan L, Yin F, Chen S, Xiong J, He F, Peng J.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Feb 28; 48(2):294-301. PubMed ID: 36999477
    [Abstract] [Full Text] [Related]

  • 15. Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
    McRae HM, Eccles S, Whitehead L, Alexander WS, Gécz J, Thomas T, Voss AK.
    Development; 2020 Oct 23; 147(21):. PubMed ID: 32994169
    [Abstract] [Full Text] [Related]

  • 16. A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
    Bellad A, Bandari AK, Pandey A, Girimaji SC, Muthusamy B.
    J Mol Neurosci; 2020 Sep 23; 70(9):1403-1409. PubMed ID: 32399860
    [Abstract] [Full Text] [Related]

  • 17. Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
    Ahmed R, Sarwar S, Hu J, Cardin V, Qiu LR, Zapata G, Vandeleur L, Yan K, Lerch JP, Corbett MA, Gecz J, Picketts DJ.
    Hum Mol Genet; 2021 May 12; 30(7):575-594. PubMed ID: 33772537
    [Abstract] [Full Text] [Related]

  • 18. PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
    Rasool D, Burban A, Sharanek A, Madrigal A, Hu J, Yan K, Qu D, Voss AK, Slack RS, Thomas T, Bonni A, Picketts DJ, Soleimani VD, Najafabadi HS, Jahani-Asl A.
    EMBO Rep; 2024 Mar 12; 25(3):1256-1281. PubMed ID: 38429579
    [Abstract] [Full Text] [Related]

  • 19. Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
    Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE.
    Eur J Hum Genet; 2023 Dec 12; 31(12):1421-1429. PubMed ID: 37704779
    [Abstract] [Full Text] [Related]

  • 20. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
    Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ.
    J Child Neurol; 2009 May 12; 24(5):610-4. PubMed ID: 19264739
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.