171 related articles for article (PubMed ID: 37704779)
1. 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; 31(12):1421-1429. PubMed ID: 37704779
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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; 69():104-109. PubMed ID: 28237832
[TBL] [Abstract][Full Text] [Related]
7. A Novel Nonsense Mutation of
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; 11(4):419-425. PubMed ID: 30630810
[TBL] [Abstract][Full Text] [Related]
8. Börjeson
Pan L; Yin F; Chen S; Xiong J; He F; Peng J
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Feb; 48(2):294-301. PubMed ID: 36999477
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. 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; 70(9):1403-1409. PubMed ID: 32399860
[TBL] [Abstract][Full Text] [Related]
11. Loss of PHF6 leads to aberrant development of human neuron-like cells.
Fliedner A; Gregor A; Ferrazzi F; Ekici AB; Sticht H; Zweier C
Sci Rep; 2020 Nov; 10(1):19030. PubMed ID: 33149206
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.
Berland S; Alme K; Brendehaug A; Houge G; Hovland R
Mol Syndromol; 2011 Sep; 1(6):294-300. PubMed ID: 22190899
[TBL] [Abstract][Full Text] [Related]
14. 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
[TBL] [Abstract][Full Text] [Related]
15. 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; 30(7):575-594. PubMed ID: 33772537
[TBL] [Abstract][Full Text] [Related]
16. 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; 25(3):1256-1281. PubMed ID: 38429579
[TBL] [Abstract][Full Text] [Related]
17. 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; 25(6):1404-1414.e6. PubMed ID: 30403997
[TBL] [Abstract][Full Text] [Related]
18. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Visootsak J; Rosner B; Dykens E; Schwartz C; Hahn K; White SM; Szeftel R; Graham JM
J Pediatr; 2004 Dec; 145(6):819-25. PubMed ID: 15580208
[TBL] [Abstract][Full Text] [Related]
19. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
Crawford J; Lower KM; Hennekam RC; Van Esch H; Mégarbané A; Lynch SA; Turner G; Gécz J
J Med Genet; 2006 Mar; 43(3):238-43. PubMed ID: 15994862
[TBL] [Abstract][Full Text] [Related]
20. Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.
Voss AK; Gamble R; Collin C; Shoubridge C; Corbett M; Gécz J; Thomas T
Gene Expr Patterns; 2007 Oct; 7(8):858-71. PubMed ID: 17698420
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
