164 related articles for article (PubMed ID: 12676923)
1. Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
Baumstark A; Lower KM; Sinkus A; Andriuskeviciute I; Jurkeniene L; Gécz J; Just W
J Med Genet; 2003 Apr; 40(4):e50. PubMed ID: 12676923
[No Abstract] [Full Text] [Related]
2. 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]
3. 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; 24(5):610-4. PubMed ID: 19264739
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Novel SLC9A6 mutations in two families with Christianson syndrome.
Riess A; Rossier E; Krüger R; Dufke A; Beck-Woedl S; Horber V; Alber M; Gläser D; Riess O; Tzschach A
Clin Genet; 2013 Jun; 83(6):596-7. PubMed ID: 22931061
[No Abstract] [Full Text] [Related]
6. 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]
7. Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
Villard L; Fontès M; Adès LC; Gecz J
Am J Med Genet; 2000 Mar; 91(1):83-5. PubMed ID: 10751095
[No Abstract] [Full Text] [Related]
8. 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]
9. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Turner G; Lower KM; White SM; Delatycki M; Lampe AK; Wright M; Smith JC; Kerr B; Schelley S; Hoyme HE; De Vries BB; Kleefstra T; Grompe M; Cox B; Gecz J; Partington M
Clin Genet; 2004 Mar; 65(3):226-32. PubMed ID: 14756673
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome.
Wheway JM; Yau SC; Nihalani V; Ellis D; Irving M; Splitt M; Roberts RG
J Med Genet; 2003 Feb; 40(2):127-31. PubMed ID: 12566522
[No Abstract] [Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM; Turner G; Kerr BA; Mathews KD; Shaw MA; Gedeon AK; Schelley S; Hoyme HE; White SM; Delatycki MB; Lampe AK; Clayton-Smith J; Stewart H; van Ravenswaay CM; de Vries BB; Cox B; Grompe M; Ross S; Thomas P; Mulley JC; Gécz J
Nat Genet; 2002 Dec; 32(4):661-5. PubMed ID: 12415272
[TBL] [Abstract][Full Text] [Related]
16. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.
Lower KM; Gecz J
Am J Med Genet; 2001 Apr; 100(1):43-8. PubMed ID: 11337747
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Mochida GH; Rajab A; Eyaid W; Lu A; Al-Nouri D; Kosaki K; Noruzinia M; Sarda P; Ishihara J; Bodell A; Apse K; Walsh CA
J Med Genet; 2004 Jun; 41(6):e87. PubMed ID: 15173253
[No Abstract] [Full Text] [Related]
19. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
Vallée D; Chevrier E; Graham GE; Lazzaro MA; Lavigne PA; Hunter AG; Picketts DJ
J Med Genet; 2004 Oct; 41(10):778-83. PubMed ID: 15466013
[No Abstract] [Full Text] [Related]
20. [Börjeson-Forssman-Lehmann syndrome].
Fujieda K
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):147-9. PubMed ID: 11057174
[No Abstract] [Full Text] [Related]
[Next] [New Search]
