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Journal Abstract Search

149 related items for PubMed ID: 35438268

  • 1. Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.
    Ekinci S, Ülger Y, Acar MO, Ceran A, Aycan Z, Fitoz ÖS, Ilgın Ruhi H.
    J Pediatr Endocrinol Metab; 2022 Aug 26; 35(8):1097-1101. PubMed ID: 35438268
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  • 2. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB, Ekmekci CG, Karaarslan E, Gunoz H, Alanay Y.
    Eur J Med Genet; 2020 Feb 26; 63(2):103659. PubMed ID: 31048079
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  • 3. [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 26; 15(11):932-6. PubMed ID: 24229583
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  • 4. 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 26; 185(1):73-82. PubMed ID: 33051983
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  • 5. ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
    De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A.
    Georgian Med News; 2012 Sep 26; (210):77-82. PubMed ID: 23045425
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  • 8. 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 26; 52(4):580-5. PubMed ID: 24411048
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  • 9. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
    Am J Med Genet A; 2017 Apr 26; 173(4):1097-1101. PubMed ID: 28181399
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  • 10. Low bone mineral density in achondroplasia and hypochondroplasia.
    Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N.
    Pediatr Int; 2016 Aug 26; 58(8):705-8. PubMed ID: 26716907
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  • 11. 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. PubMed ID: 23726269
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  • 14. Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.
    Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y.
    Brain Dev; 2017 Jan 23; 39(1):67-71. PubMed ID: 27485793
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  • 15. Homozygous N540K hypochondroplasia--first report: radiological and clinical features.
    De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG.
    Am J Med Genet A; 2014 Jul 23; 164A(7):1784-8. PubMed ID: 24715719
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  • 18. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.
    Riba FRG, Gomes MES, Rabelo NC, Zuma MCC, Llerena JC, Mencalha AL, Gonzalez S.
    Genet Test Mol Biomarkers; 2021 Oct 23; 25(10):674-682. PubMed ID: 34672771
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  • 19. Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
    Romeo A, Lodi M, Viri M, Parente E, Baldi M, Righini A, Milani D.
    Pediatr Neurol; 2014 Apr 23; 50(4):427-30. PubMed ID: 24630288
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  • 20. Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
    González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE.
    Am J Med Genet A; 2018 May 23; 176(5):1225-1231. PubMed ID: 29681095
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