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134 related items for PubMed ID: 16575888

  • 1. 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 01; 140(9):998-1003. PubMed ID: 16575888
    [Abstract] [Full Text] [Related]

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  • 3. 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. PubMed ID: 10360393
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  • 4. Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.
    Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ.
    Am J Med Genet; 1999 Nov 26; 87(3):226-9. PubMed ID: 10564875
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  • 5. 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 26; 155A(10):2426-35. PubMed ID: 21910223
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  • 6. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
    Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.
    Eur J Hum Genet; 2006 Dec 26; 14(12):1240-7. PubMed ID: 16912704
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  • 7. [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 26; 131(12):1405-10. PubMed ID: 15022403
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  • 8. Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.
    Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M.
    Am J Med Genet A; 2012 Mar 26; 158A(3):630-4. PubMed ID: 22302603
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  • 9. 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 26; 18(10):999-1005. PubMed ID: 16355813
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  • 10. 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. PubMed ID: 10360392
    [Abstract] [Full Text] [Related]

  • 11. Genotype and phenotype in hypochondroplasia.
    Ramaswami U, Rumsby G, Hindmarsh PC, Brook CG.
    J Pediatr; 1998 Jul 11; 133(1):99-102. PubMed ID: 9672519
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  • 12. Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
    Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q.
    Clin Chim Acta; 2008 Jan 11; 387(1-2):153-7. PubMed ID: 17920052
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  • 13. Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period.
    Kataoka S, Sawai H, Yamada H, Kanazawa N, Koyama K, Nishimura G, Morikawa M, Sakuragi N, Minakami H.
    Prenat Diagn; 2004 Jan 11; 24(1):45-9. PubMed ID: 14755409
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  • 14. Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
    Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M.
    Am J Med Genet A; 2021 Jan 11; 185(1):73-82. PubMed ID: 33051983
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  • 15. [Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].
    Li F, Ma HW, Song Y, Hu M, Ren S, Yu YF, Zhao GJ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov 11; 15(11):932-6. PubMed ID: 24229583
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  • 16. [Clinical analysis of 21 cases with short fetal femur in the third trimester].
    Ren Y, You YQ, Zhou HH, Wang LX, Xu H, Li RB, Wang SJ, Xie XX, Meng YG, Lu YP.
    Zhonghua Fu Chan Ke Za Zhi; 2017 Feb 25; 52(2):86-92. PubMed ID: 28253570
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  • 17. Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report.
    Xie H, Chen Y, Xiong F, Li J, Yang F.
    BMC Pediatr; 2023 Mar 02; 23(1):100. PubMed ID: 36859260
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  • 18. [Prenatal diagnose of abnormalities of fetal limb bone].
    Song J, Wang X.
    Zhonghua Fu Chan Ke Za Zhi; 2010 Oct 02; 45(10):745-9. PubMed ID: 21176554
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  • 20. Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia.
    Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T.
    Endocr J; 2000 Mar 02; 47 Suppl():S121-4. PubMed ID: 10890199
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