120 related articles for article (PubMed ID: 15324311)
1. New insights in congenital bowing of the femora.
Cormier-Daire V; Geneviève D; Munnich A; Le Merrer M
Clin Genet; 2004 Sep; 66(3):169-76. PubMed ID: 15324311
[TBL] [Abstract][Full Text] [Related]
2. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N; Scheffer D; Huber C; Al-Gazali LI; Di Rocco M; Godard A; Martinovic J; Raas-Rothschild A; Sigaudy S; Unger S; Nicole S; Fontaine B; Taupin JL; Moreau JF; Superti-Furga A; Le Merrer M; Bonaventure J; Munnich A; Legeai-Mallet L; Cormier-Daire V
Am J Hum Genet; 2004 Feb; 74(2):298-305. PubMed ID: 14740318
[TBL] [Abstract][Full Text] [Related]
3. Stüve-Wiedemann syndrome and related bent bone dysplasias.
Akawi NA; Ali BR; Al-Gazali L
Clin Genet; 2012 Jul; 82(1):12-21. PubMed ID: 22300393
[TBL] [Abstract][Full Text] [Related]
4. Acampomelic campomelic dysplasia with SOX9 mutation.
Thong MK; Scherer G; Kozlowski K; Haan E; Morris L
Am J Med Genet; 2000 Aug; 93(5):421-5. PubMed ID: 10951468
[TBL] [Abstract][Full Text] [Related]
5. SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia.
Friedrich U; Schaefer E; Meinecke P; Scherer G
Clin Dysmorphol; 2000 Jul; 9(3):233. PubMed ID: 10955489
[TBL] [Abstract][Full Text] [Related]
6. The mildest form of campomelic dysplasia.
Unger S
Am J Med Genet A; 2005 Jan; 132A(1):113; author reply 114-5. PubMed ID: 15578585
[No Abstract] [Full Text] [Related]
7. Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia.
Hageman RM; Cameron FJ; Sinclair AH
Hum Mutat; 1998; Suppl 1():S112-3. PubMed ID: 9452058
[No Abstract] [Full Text] [Related]
8. Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
Hsiao HP; Tsai LP; Chao MC; Tseng HI; Chang YC
J Formos Med Assoc; 2006 Dec; 105(12):1013-6. PubMed ID: 17185244
[TBL] [Abstract][Full Text] [Related]
9. Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Savarirayan R; Bankier A
J Med Genet; 1998 Jul; 35(7):597-9. PubMed ID: 9678706
[TBL] [Abstract][Full Text] [Related]
10. Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
Mikelonis D; Jorcyk CL; Tawara K; Oxford JT
Orphanet J Rare Dis; 2014 Mar; 9():34. PubMed ID: 24618404
[TBL] [Abstract][Full Text] [Related]
11. Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Jung C; Dagoneau N; Baujat G; Le Merrer M; David A; Di Rocco M; Hamel B; Mégarbané A; Superti-Furga A; Unger S; Munnich A; Cormier-Daire V
Clin Genet; 2010 Mar; 77(3):266-72. PubMed ID: 20447141
[TBL] [Abstract][Full Text] [Related]
12. Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy.
Kozlowski K; Tenconi R
Am J Med Genet; 1996 May; 63(1):17-9. PubMed ID: 8723081
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
Spranger J; Hall BD; Häne B; Srivastava A; Stevenson RE
Am J Med Genet; 2000 Oct; 94(4):287-95. PubMed ID: 11038441
[TBL] [Abstract][Full Text] [Related]
14. Differentiating campomelic dysplasia from Cumming syndrome.
Watiker V; Lachman RS; Wilcox WR; Barroso I; Schafer AJ; Scherer G
Am J Med Genet A; 2005 May; 135(1):110-2. PubMed ID: 15754354
[No Abstract] [Full Text] [Related]
15. Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
Jakubiczka S; Bettecken T; Koch G; Tüysüz B; Wollnik B; Wieacker P
Clin Dysmorphol; 2001 Jul; 10(3):197-201. PubMed ID: 11446414
[TBL] [Abstract][Full Text] [Related]
16. Stüve-Wiedemann syndrome in a neonate.
Sarafidis K; Piretzi K; Agakidou E; Kohlhase J; Zafeiriou D
Pediatr Int; 2015 Apr; 57(2):302-4. PubMed ID: 25868946
[TBL] [Abstract][Full Text] [Related]
17. Stuve-Wiedemann syndrome: is it underrecognized?
Yeşil G; Lebre AS; Santos SD; Güran O; Özahi II; Daire VC; Güran T
Am J Med Genet A; 2014 Sep; 164A(9):2200-5. PubMed ID: 24988918
[TBL] [Abstract][Full Text] [Related]
18. Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.
Kwok C; Goodfellow PN; Hawkins JR
J Med Genet; 1996 Sep; 33(9):800-1. PubMed ID: 8880588
[TBL] [Abstract][Full Text] [Related]
19. Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
Schafer AJ; Foster JW; Kwok C; Weller PA; Guioli S; Goodfellow PN
Ann N Y Acad Sci; 1996 Jun; 785():137-49. PubMed ID: 8702120
[No Abstract] [Full Text] [Related]
20. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Siccha SM; Cueto AM; Parrón-Pajares M; González-Morán G; Pacio-Miguez M; Del Pozo Á; Solís M; Rodriguez-Jimenez C; Caino S; Fano V; Heath KE; García-Miñaúr S; Palomares-Bralo M; Santos-Simarro F
Am J Med Genet A; 2021 Mar; 185(3):856-865. PubMed ID: 33305909
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
