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Journal Abstract Search

279 related items for PubMed ID: 23726269

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.
    Grigelioniené G, Hagenäs L, Eklöf O, Neumeyer L, Haereid PE, Anvret M.
    Hum Mutat; 1998 Aug 26; 11(4):333. PubMed ID: 10215410
    [Abstract] [Full Text] [Related]

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  • 24. Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
    González-Del Angel A, Caro-Contreras A, Alcántara-Ortigoza MA, Ramos S, Cruz-Alcívar R, Moyers-Pérez P.
    Am J Med Genet A; 2018 Jan 26; 176(1):161-166. PubMed ID: 29150894
    [Abstract] [Full Text] [Related]

  • 25. Criteria for radiologic diagnosis of hypochondroplasia in neonates.
    Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.
    Pediatr Radiol; 2016 Apr 26; 46(4):513-8. PubMed ID: 26867606
    [Abstract] [Full Text] [Related]

  • 26. Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients.
    Yasuda M, Morimoto N, Shimizu A, Toyoshima T, Yokoyama Y, Ishikawa O.
    J Dermatol; 2018 Nov 26; 45(11):1357-1361. PubMed ID: 30168875
    [Abstract] [Full Text] [Related]

  • 27. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
    Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S.
    Am J Med Genet A; 2012 Dec 26; 158A(12):3119-25. PubMed ID: 23165795
    [Abstract] [Full Text] [Related]

  • 28. 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 26; 176(5):1225-1231. PubMed ID: 29681095
    [Abstract] [Full Text] [Related]

  • 29. Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
    Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.
    Pediatr Dermatol; 2019 Mar 26; 36(2):242-246. PubMed ID: 30762251
    [Abstract] [Full Text] [Related]

  • 30. FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation.
    Arenas MA, Del Pino M, Fano V.
    J Pediatr Endocrinol Metab; 2018 Nov 27; 31(11):1279-1284. PubMed ID: 30335613
    [Abstract] [Full Text] [Related]

  • 31. A novel variant of FGFR3 causes proportionate short stature.
    Kant SG, Cervenkova I, Balek L, Trantirek L, Santen GW, de Vries MC, van Duyvenvoorde HA, van der Wielen MJ, Verkerk AJ, Uitterlinden AG, Hannema SE, Wit JM, Oostdijk W, Krejci P, Losekoot M.
    Eur J Endocrinol; 2015 Jun 27; 172(6):763-70. PubMed ID: 25777271
    [Abstract] [Full Text] [Related]

  • 32. New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant.
    Mimura PMP, Castro JTS, Jarry VM, França Júnior MC, Reis F.
    Arq Neuropsiquiatr; 2021 Jul 27; 79(7):656-657. PubMed ID: 34133497
    [No Abstract] [Full Text] [Related]

  • 33. [Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].
    Zhang Q, Jiang HO, Quan QL, Li J, He T, Huang XS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec 27; 28(6):705-7. PubMed ID: 22161110
    [Abstract] [Full Text] [Related]

  • 34. Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis.
    Massart F, Miccoli M, Baggiani A, Bertelloni S.
    Pharmacogenomics; 2015 Nov 27; 16(17):1965-73. PubMed ID: 26555758
    [Abstract] [Full Text] [Related]

  • 35. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
    Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE.
    Hum Mutat; 2014 Aug 27; 35(8):959-63. PubMed ID: 24864036
    [Abstract] [Full Text] [Related]

  • 36. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
    Naski MC, Wang Q, Xu J, Ornitz DM.
    Nat Genet; 1996 Jun 27; 13(2):233-7. PubMed ID: 8640234
    [Abstract] [Full Text] [Related]

  • 37. 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 27; 14(12):1240-7. PubMed ID: 16912704
    [Abstract] [Full Text] [Related]

  • 38. C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
    Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB.
    J Clin Endocrinol Metab; 2015 Feb 27; 100(2):E355-9. PubMed ID: 25387261
    [Abstract] [Full Text] [Related]

  • 39. Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.
    Chaudhry C, G P, Srivastava P, Das R, Kaur J, Panigrahi I, Kaur A.
    Lab Med; 2021 Sep 01; 52(5):499-502. PubMed ID: 33511985
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