261 related articles for article (PubMed ID: 9605588)
1. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
Chun K; Siegel-Bartelt J; Chitayat D; Phillips J; Ray PN
Am J Med Genet; 1998 May; 77(3):219-24. PubMed ID: 9605588
[TBL] [Abstract][Full Text] [Related]
2. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Kelley RI; Kratz LE; Glaser RL; Netzloff ML; Wolf LM; Jabs EW
Am J Med Genet; 2002 Jun; 110(2):95-102. PubMed ID: 12116245
[TBL] [Abstract][Full Text] [Related]
3. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W; Smith A; Honour JW; Hindmarsh P; Das D; Rumsby G; Nelson I; Malcolm S; Adès L; Sillence D; Kumar D; DeLozier-Blanchet C; McKee S; Kelly T; McKeehan WL; Baraitser M; Winter RM
J Med Genet; 2000 Jan; 37(1):26-32. PubMed ID: 10633130
[TBL] [Abstract][Full Text] [Related]
4. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
Okajima K; Robinson LK; Hart MA; Abuelo DN; Cowan LS; Hasegawa T; Maumenee IH; Jabs EW
Am J Med Genet; 1999 Jul; 85(2):160-70. PubMed ID: 10406670
[TBL] [Abstract][Full Text] [Related]
5. [Antley-Bixler syndrome].
Satokata I
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):133-5. PubMed ID: 11057168
[No Abstract] [Full Text] [Related]
6. Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture.
Kitoh H; Nogami H; Oki T; Arao K; Nagasaka M; Tanaka Y
J Pediatr Orthop; 1996; 16(2):243-6. PubMed ID: 8742293
[TBL] [Abstract][Full Text] [Related]
7. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
Huang N; Pandey AV; Agrawal V; Reardon W; Lapunzina PD; Mowat D; Jabs EW; Van Vliet G; Sack J; Flück CE; Miller WL
Am J Hum Genet; 2005 May; 76(5):729-49. PubMed ID: 15793702
[TBL] [Abstract][Full Text] [Related]
8. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan SH; Elanko N; Johnson D; Cornejo-Roldan L; Cook J; Reich EW; Tomkins S; Verloes A; Twigg SR; Rannan-Eliya S; McDonald-McGinn DM; Zackai EH; Wall SA; Muenke M; Wilkie AO
Am J Hum Genet; 2002 Feb; 70(2):472-86. PubMed ID: 11781872
[TBL] [Abstract][Full Text] [Related]
9. The Antley-Bixler syndrome: two new cases.
Hosalkar HS; Shah HS; Gujar PS; Shaw BA
J Postgrad Med; 2001; 47(4):252-5. PubMed ID: 11832641
[TBL] [Abstract][Full Text] [Related]
10. FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.
Kanauchi Y; Muragaki Y; Ogino T; Takahara M; Tsuchida H; Ishigaki D
Congenit Anom (Kyoto); 2003 Dec; 43(4):302-5. PubMed ID: 15041782
[TBL] [Abstract][Full Text] [Related]
11. Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rumball KM; Pang E; Letts RM
J Pediatr Orthop B; 1999 Apr; 8(2):139-43. PubMed ID: 10218180
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
Mulliken JB; Gripp KW; Stolle CA; Steinberger D; Müller U
Plast Reconstr Surg; 2004 Jun; 113(7):1899-909. PubMed ID: 15253176
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
Ito S; Sekido K; Kanno H; Sato H; Tanaka M; Yamaguchi K; Yamamoto I
J Neurosurg; 2005 Jan; 102(1 Suppl):23-30. PubMed ID: 16206730
[TBL] [Abstract][Full Text] [Related]
14. Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family.
Zhang Y; Gorry MC; Post JC; Ehrlich GD
Gene; 1999 Apr; 230(1):69-79. PubMed ID: 10196476
[TBL] [Abstract][Full Text] [Related]
15. Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
Zackai EH; McDonald-McGinn DM; Stolle C; Huff DS
Clin Dysmorphol; 2003 Jul; 12(3):209. PubMed ID: 14564165
[TBL] [Abstract][Full Text] [Related]
16. Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
Steinberger D; Müller U; Jünger TH; Howaldt HP; Christophis P
J Med Genet; 1999 Jun; 36(6):499-500. PubMed ID: 10874645
[No Abstract] [Full Text] [Related]
17. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.
Adachi M; Tachibana K; Asakura Y; Yamamoto T; Hanaki K; Oka A
Am J Med Genet A; 2004 Aug; 128A(4):333-9. PubMed ID: 15264278
[TBL] [Abstract][Full Text] [Related]
18. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.
Shotelersuk V; Ittiwut C; Srivuthana S; Mahatumarat C; Lerdlum S; Wacharasindhu S
Am J Med Genet; 2002 Nov; 113(1):4-8. PubMed ID: 12400058
[TBL] [Abstract][Full Text] [Related]
19. Not Antley-Bixler syndrome.
Gripp KW; Zackai EH; Cohen MM
Am J Med Genet; 1999 Mar; 83(1):65-8. PubMed ID: 10076887
[No Abstract] [Full Text] [Related]
20. Patient described by Chun et al. may not present Antley-Bixler syndrome.
Gorlin RJ
Am J Med Genet; 1999 Mar; 83(1):64. PubMed ID: 10076886
[No Abstract] [Full Text] [Related]
[Next] [New Search]