310 related articles for article (PubMed ID: 25691418)
1. Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
Accogli A; Pacetti M; Fiaschi P; Pavanello M; Piatelli G; Nuzzi D; Baldi M; Tassano E; Severino MS; Allegri A; Capra V
Am J Med Genet A; 2015 Mar; 167A(3):646-52. PubMed ID: 25691418
[TBL] [Abstract][Full Text] [Related]
2. Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.
Bessenyei B; Nagy A; Balogh E; Novák L; Bognár L; Knegt AC; Oláh E
Am J Med Genet A; 2013 Oct; 161A(10):2641-4. PubMed ID: 23949953
[TBL] [Abstract][Full Text] [Related]
3. Achondroplasia with synostosis of multiple sutures.
Georgoulis G; Alexiou G; Prodromou N
Am J Med Genet A; 2011 Aug; 155A(8):1969-71. PubMed ID: 21739570
[TBL] [Abstract][Full Text] [Related]
4. Achondroplasia and multiple-suture craniosynostosis.
Albino FP; Wood BC; Oluigbo CO; Lee AC; Oh AK; Rogers GF
J Craniofac Surg; 2015 Jan; 26(1):222-5. PubMed ID: 25502720
[TBL] [Abstract][Full Text] [Related]
5. Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.
Karadimas C; Trouvas D; Haritatos G; Makatsoris C; Dedoulis E; Velissariou V; Antoniadi T; Hatzaki A; Petersen MB
Prenat Diagn; 2006 Mar; 26(3):258-61. PubMed ID: 16475234
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei B; Nagy A; Szakszon K; Mokánszki A; Balogh E; Ujfalusi A; Tihanyi M; Novák L; Bognár L; Oláh É
Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
[TBL] [Abstract][Full Text] [Related]
7. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
Ohishi A; Nishimura G; Kato F; Ono H; Maruwaka K; Ago M; Suzumura H; Hirose E; Uchida Y; Fukami M; Ogata T
Am J Med Genet A; 2017 Jan; 173(1):157-162. PubMed ID: 27683237
[TBL] [Abstract][Full Text] [Related]
8. Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.
Cassileth LB; Bartlett SP; Glat PM; Gripp KW; Muenke M; Zackai EH; Whitaker LA
Plast Reconstr Surg; 2001 Dec; 108(7):1849-54. PubMed ID: 11743367
[TBL] [Abstract][Full Text] [Related]
9. FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
Di Rocco F; Biosse Duplan M; Heuzé Y; Kaci N; Komla-Ebri D; Munnich A; Mugniery E; Benoist-Lasselin C; Legeai-Mallet L
Hum Mol Genet; 2014 Jun; 23(11):2914-25. PubMed ID: 24419316
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.
Ko JM; Jeong SY; Yang JA; Park DH; Yoon SH
Plast Reconstr Surg; 2012 May; 129(5):814e-821e. PubMed ID: 22544111
[TBL] [Abstract][Full Text] [Related]
11. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z; Francomano CA; Wilkin DJ
Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568
[TBL] [Abstract][Full Text] [Related]
12. A novel AXIN2 gene mutation in sagittal synostosis.
Yilmaz E; Mihci E; Guzel Nur B; Alper OM
Am J Med Genet A; 2018 Sep; 176(9):1976-1980. PubMed ID: 30088857
[TBL] [Abstract][Full Text] [Related]
13. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Barroso E; Pérez-Carrizosa V; García-Recuero I; Glucksman MJ; Wilkie AO; García-Minaur S; Heath KE
Am J Med Genet A; 2011 Dec; 155A(12):3050-3. PubMed ID: 22038757
[TBL] [Abstract][Full Text] [Related]
14. Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
Rump P; Letteboer TG; Gille JJ; Torringa MJ; Baerts W; van Gestel JP; Verheij JB; van Essen AJ
Am J Med Genet A; 2006 Feb; 140(3):284-90. PubMed ID: 16411219
[TBL] [Abstract][Full Text] [Related]
15. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL; Pande CK; Turcott CM; Spector EB; Aylsworth AS; Powell CM
Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399
[TBL] [Abstract][Full Text] [Related]
16. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; McGaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; McGillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF
Am J Med Genet C Semin Med Genet; 2013 Nov; 163C(4):259-70. PubMed ID: 24127277
[TBL] [Abstract][Full Text] [Related]
17. Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
Zhang CH; D'Arco F; Borghi A; Picariello S; Cheung M; Irving M; Thompson D
Childs Nerv Syst; 2023 Dec; 39(12):3491-3499. PubMed ID: 37322357
[TBL] [Abstract][Full Text] [Related]
18. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
Seto ML; Hing AV; Chang J; Hu M; Kapp-Simon KA; Patel PK; Burton BK; Kane AA; Smyth MD; Hopper R; Ellenbogen RG; Stevenson K; Speltz ML; Cunningham ML
Am J Med Genet A; 2007 Apr; 143A(7):678-86. PubMed ID: 17343269
[TBL] [Abstract][Full Text] [Related]
19. Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.
Hubbard BA; Gorski JL; Muzaffar AR
Cleft Palate Craniofac J; 2011 Sep; 48(5):631-5. PubMed ID: 20839967
[TBL] [Abstract][Full Text] [Related]
20. Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
He X; Xie F; Ren ZR
Genet Test Mol Biomarkers; 2012 Apr; 16(4):297-301. PubMed ID: 22339077
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
