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Items: 1 to 20 of 154

1.

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.

Hatzaki A, Sifakis S, Apostolopoulou D, Bouzarelou D, Konstantinidou A, Kappou D, Sideris A, Tzortzis E, Athanassiadis A, Florentin L, Theodoropoulos P, Makatsoris C, Karadimas C, Velissariou V.

Am J Med Genet A. 2011 Oct;155A(10):2426-35. doi: 10.1002/ajmg.a.34189. Epub 2011 Sep 9.

PMID:
21910223
2.

Prenatal sonographic diagnosis of skeletal dysplasias.

Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B.

Ultrasound Obstet Gynecol. 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359.

3.

Prenatal diagnosis of hypochondroplasia: report of two cases.

Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A.

Am J Med Genet A. 2006 May 1;140(9):998-1003.

PMID:
16575888
4.

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W.

Taiwan J Obstet Gynecol. 2013 Dec;52(4):580-5. doi: 10.1016/j.tjog.2013.10.023. Review.

5.

Skeletal dysplasias: 38 prenatal cases.

Witters I, Moerman P, Fryns JP.

Genet Couns. 2008;19(3):267-75.

PMID:
18990981
6.

FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE.

Skeletal Radiol. 2015 Mar;44(3):441-5. doi: 10.1007/s00256-014-1983-6. Epub 2014 Aug 15.

PMID:
25119967
7.

[Clinical study and prenatal diagnosis of fetus with shortened long bones].

Huang LH, Fang Q, Xie HN, Yang ZY, Yang YZ, Shi HJ, Huang X.

Zhonghua Yi Xue Za Zhi. 2007 Dec 4;87(45):3178-82. Chinese.

PMID:
18399109
8.

Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.

Yang Y, Liu YN, Li DZ.

Fetal Pediatr Pathol. 2012 Jun;31(3):128-33. doi: 10.3109/15513815.2011.648720. Epub 2012 Mar 13.

PMID:
22414243
9.

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

Trujillo-Tiebas MJ, Fenollar-Cortés M, Lorda-Sánchez I, Díaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C.

J Assist Reprod Genet. 2009 Aug;26(8):455-60. doi: 10.1007/s10815-009-9339-1. Epub 2009 Sep 30.

10.

Antenatal detection of skeletal dysplasias.

Parilla BV, Leeth EA, Kambich MP, Chilis P, MacGregor SN.

J Ultrasound Med. 2003 Mar;22(3):255-8; quiz 259-61.

PMID:
12636325
11.

[Prenatal diagnosis of achondroplasia].

Huang X, Huang LH, Fang Q, Chen ML, Zhou Y, Cai J, Chen BJ, Chen JH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Aug;25(4):427-9. Chinese.

PMID:
18683143
12.

The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.

Krejci P.

Mutat Res Rev Mutat Res. 2014 Jan-Mar;759:40-8. doi: 10.1016/j.mrrev.2013.11.001. Epub 2013 Dec 1. Review.

PMID:
24295726
13.

A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J.

Clin Chim Acta. 2013 Aug 23;423:62-5. doi: 10.1016/j.cca.2013.04.015. Epub 2013 Apr 24.

PMID:
23726269
14.

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

Toru HS, Nur BG, Sanhal CY, Mihci E, Mendilcioğlu İ, Yilmaz E, Yilmaz GT, Ozbudak IH, Karaali K, Alper OM, Karaveli FŞ.

Fetal Pediatr Pathol. 2015;34(5):287-306. doi: 10.3109/15513815.2015.1068414. Epub 2015 Aug 20.

PMID:
26376227
15.

Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.

Tonni G, Azzoni D, Ventura A, Ferrari B, Felice CD, Baldi M.

Fetal Pediatr Pathol. 2010;29(5):314-22. doi: 10.3109/15513811003796938.

PMID:
20704477
16.

Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.

Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF.

Can Assoc Radiol J. 1999 Jun;50(3):185-97. Review.

PMID:
10405653
17.

Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.

Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H.

Fetal Diagn Ther. 2008;24(4):420-4. doi: 10.1159/000170092. Epub 2008 Nov 6.

PMID:
18987480
18.
19.

FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.

Yang Y, Li DZ.

Fetal Diagn Ther. 2009;26(2):90-2. doi: 10.1159/000238120. Epub 2009 Sep 11.

PMID:
19752524
20.

Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.

Zhen L, Pan M, Han J, Yang X, Liao C, Li DZ.

J Obstet Gynaecol. 2015;35(7):685-7. doi: 10.3109/01443615.2015.1006593. Epub 2015 Feb 11.

PMID:
25671245

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