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Results: 1 to 20 of 125

Similar articles for PubMed (Select 22747519)

1.

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.

2.

Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report.

Juul A, Aksglaede L, Lund AM, Duno M, Skakkebaek NE, Rajpert-De Meyts E.

Hum Reprod. 2007 Jul;22(7):1907-11. Epub 2007 Jun 6.

3.

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
4.

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.

Pugash D, Lehman AM, Langlois S.

Ultrasound Obstet Gynecol. 2014 Sep;44(3):365-8. doi: 10.1002/uog.13359.

PMID:
24616001
5.

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T.

Am J Med Genet A. 2008 Jan 15;146A(2):212-8.

PMID:
18076102
6.
7.

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.

Am J Med Genet. 1999 Jun 11;84(5):401-5.

PMID:
10360393
8.

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.

9.

[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
10.

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
11.

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.

PMID:
24411048
12.

Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.

Dumic K, Barisic I, Potocki K, Sansovic I.

J Appl Genet. 2011 May;52(2):209-12. doi: 10.1007/s13353-010-0024-y. Epub 2011 Jan 12.

PMID:
21225389
13.

Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

Patil SJ, Banerjee M, Phadke SR, Mittal B.

Indian J Pediatr. 2009 Feb;76(2):147-9. doi: 10.1007/s12098-009-0044-y. Epub 2009 Mar 28.

PMID:
19330302
14.

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
15.

[Rapid genetic prenatal diagnosis for achondroplasia].

Zhu HY, Yang Y, Li J, Ru T, Hu YL.

Zhonghua Fu Chan Ke Za Zhi. 2008 Nov;43(11):810-3. Chinese.

PMID:
19087561
16.

Achondroplasia-hypochondroplasia complex in a newborn infant.

Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.

Am J Med Genet. 1999 Jun 11;84(5):396-400.

PMID:
10360392
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.

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].

Mancilla EE, Poggi H, Repetto G, García C, Foradori A, Cattani A.

Rev Med Chil. 2003 Dec;131(12):1405-10. Spanish.

PMID:
15022403
19.

Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.

Shin YL, Choi JH, Kim GH, Yoo HW.

J Pediatr Endocrinol Metab. 2005 Oct;18(10):999-1005.

PMID:
16355813
20.

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P.

Am J Med Genet. 1995 Jan 2;55(1):127-33.

PMID:
7702086
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