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Items: 1 to 20 of 138

1.

Apert syndrome with fused thalami.

Ludwig K, Salmaso R, Manara R, Cosmi E, Baldi M, Rugge M.

Fetal Pediatr Pathol. 2012 Dec;31(6):410-4. doi: 10.3109/15513815.2012.659407. Epub 2012 Mar 23.

PMID:
22443264
2.

Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.

Athanasiadis AP, Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P, Norbury G, Bontis JN.

Fetal Diagn Ther. 2008;24(4):495-8. doi: 10.1159/000181186. Epub 2008 Dec 11.

PMID:
19077386
3.

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.

Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L.

Bone. 2008 Apr;42(4):631-43. doi: 10.1016/j.bone.2007.11.019. Epub 2008 Jan 31.

PMID:
18242159
4.

Pfeiffer syndrome.

Vogels A, Fryns JP.

Orphanet J Rare Dis. 2006 Jun 1;1:19. Review.

5.

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.

Chen CP, Su YN, Chang TY, Chern SR, Chen CY, Su JW, Wang W.

Taiwan J Obstet Gynecol. 2013 Jun;52(2):273-7. doi: 10.1016/j.tjog.2013.04.022.

6.

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE.

Prenat Diagn. 2006 Oct;26(10):966-72.

PMID:
16906598
7.

Apert syndrome with omphalocele: a case report.

Ercoli G, Bidondo MP, Senra BC, Groisman B.

Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):726-9. doi: 10.1002/bdra.23270. Epub 2014 Jul 21.

PMID:
25045033
8.

Apert syndrome, an antenatal ultrasound detected case.

Parent P, Le Guern H, Munck MR, Thoma M.

Genet Couns. 1994;5(3):297-301.

PMID:
7811431
9.

Apert syndrome.

Freiman A, Tessler O, Barankin B.

Int J Dermatol. 2006 Nov;45(11):1341-3.

PMID:
17076721
10.

[Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].

Wada C, Ishigaki M, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.

Rinsho Byori. 1996 May;44(5):435-8. Japanese.

PMID:
8676562
11.

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.

Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, Baergen RN, Gross SJ.

Ultrasound Obstet Gynecol. 1999 Dec;14(6):426-30.

12.

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.

Birth Defects Res A Clin Mol Teratol. 2006 Aug;76(8):629-33.

PMID:
16955501
13.

Monozygotic twins with Apert syndrome.

Breugem CC, Fitzpatrick DF, Verchere C.

Cleft Palate Craniofac J. 2008 Jan;45(1):101-4. doi: 10.1597/06-149.1.

PMID:
18215098
14.

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A.

J Med Genet. 1998 Aug;35(8):677-9.

15.

Apert syndrome in a newborn infant without craniosynostosis.

Coomaralingam S, Roth P.

J Craniofac Surg. 2012 May;23(3):e209-11. doi: 10.1097/SCS.0b013e31824de344.

PMID:
22627435
16.

A case of acrocephalosyndactyly with low imperforate anus.

Kodaka T, Kanamori Y, Sugiyama M, Hashizume K.

J Pediatr Surg. 2004 Jan;39(1):E32-4.

PMID:
14694405
17.

Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.

Da Costa AC, Savarirayan R, Wrennall JA, Walters I, Gardiner N, Tucker A, Anderson V, Meara JG.

Ann Plast Surg. 2005 Apr;54(4):450-5.

PMID:
15785290
18.
19.

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.

Weber B, Schwabegger AH, Vodopiutz J, Janecke AR, Forstner R, Steiner H.

Fetal Diagn Ther. 2010;27(1):51-6. doi: 10.1159/000262447. Epub 2009 Nov 26.

PMID:
19940464
20.

Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

Miraoui H, Ringe J, Häupl T, Marie PJ.

Hum Mol Genet. 2010 May 1;19(9):1678-89. doi: 10.1093/hmg/ddq045. Epub 2010 Feb 2.

PMID:
20124286

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