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Items: 1 to 20 of 137

1.

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. doi: 10.1002/ajmg.a.36130. Epub 2013 Aug 15.

PMID:
23949953
2.

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. doi: 10.1002/ajmg.a.36933. Review.

PMID:
25691418
3.

Achondroplasia with synostosis of multiple sutures.

Georgoulis G, Alexiou G, Prodromou N.

Am J Med Genet A. 2011 Aug;155A(8):1969-71. doi: 10.1002/ajmg.a.33744. Epub 2011 Jul 7.

PMID:
21739570
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. doi: 10.1097/SCS.0000000000001267.

PMID:
25502720
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.

PMID:
16475234
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. doi: 10.1002/ajmg.a.37298. Epub 2015 Aug 20.

PMID:
26289989
7.

Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.

Hubbard BA, Gorski JL, Muzaffar AR.

Cleft Palate Craniofac J. 2011 Sep;48(5):631-5. doi: 10.1597/09-266. Epub 2010 Sep 14.

PMID:
20839967
8.

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. doi: 10.1002/ajmg.a.34199. Epub 2011 Oct 28.

PMID:
22038757
10.

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW.

Am J Med Genet A. 2014 Jan;164A(1):243-50. doi: 10.1002/ajmg.a.36236. Epub 2013 Oct 29.

PMID:
24352917
11.

Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association.

de Azevedo Moreira LM, Matos MA, Schiper PP, Carvalho AF, Gomes IC, Rolemberg JC, Ferreira de Lima RL, Toralles MB.

Birth Defects Res A Clin Mol Teratol. 2010 Apr;88(4):228-31. doi: 10.1002/bdra.20653. Review.

PMID:
20222028
12.

FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation.

Chen H, Mu X, Sonoda T, Kim KC, Dailey K, Martinez J, Tuck-Muller C, Wertelecki W.

South Med J. 2000 Jun;93(6):622-4.

PMID:
10881785
13.

Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.

Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L.

Am J Hum Genet. 2012 Dec 7;91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29.

14.

Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.

Friez MJ, Wilson JA.

Eur J Hum Genet. 2008 Mar;16(3):277-8. Epub 2007 Sep 26. No abstract available.

15.

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 1;23(11):2914-25. doi: 10.1093/hmg/ddu004. Epub 2014 Jan 12.

PMID:
24419316
16.

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

Ros-Pérez P, Regidor FJ, Colino E, Martínez-Payo C, Barroso E, Heath KE.

BMC Pediatr. 2012 Jun 29;12:88. doi: 10.1186/1471-2431-12-88.

17.

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 1;140(3):284-90.

PMID:
16411219
18.

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-21e. doi: 10.1097/PRS.0b013e31824a2dda.

PMID:
22544111
19.

Muenke syndrome: An international multicenter natural history study.

Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M.

Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6.

PMID:
26740388
20.

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T.

Am J Med Genet A. 2015 Nov;167A(11):2851-4. doi: 10.1002/ajmg.a.37231. Epub 2015 Jun 30. No abstract available.

PMID:
26126848

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