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Items: 1 to 20 of 123

1.
Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice
Léa Loisay, Davide Komla-Ebri, Anne Morice, Yann Heuzé, Camille Viaut, Amélie de La Seiglière, Nabil Kaci, Danny Chan, Audrey Lamouroux, Geneviève Baujat, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai-Mallet
JCI Insight. 2023 Jun 22; 8(12): e168796. Published online 2023 Jun 22. doi: 10.1172/jci.insight.168796
PMCID:
PMC10371252
ArticlePubReaderPDF–16MCite
2.
Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report
Hua Xie, Yulin Chen, Fei Xiong, Jinrong Li, Fan Yang
BMC Pediatr. 2023; 23: 100. Published online 2023 Mar 2. doi: 10.1186/s12887-023-03917-2
PMCID:
PMC9979515
ArticlePubReaderPDF–1.8MCite
3.
Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study
Akiko Ajimi, Masaki Matsushita, Kenichi Mishima, Nobuhiko Haga, Sayaka Fujiwara, Keiichi Ozono, Takuo Kubota, Taichi Kitaoka, Shiro Imagama, Hiroshi Kitoh
Clin Pediatr Endocrinol. 2022; 31(1): 18–24. Published online 2021 Nov 1. doi: 10.1297/cpe.2021-0043
PMCID:
PMC8713058
ArticlePubReaderPDF–918KCite
4.
Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia
Dror Paley
Children (Basel) 2021 Jul; 8(7): 540. Published online 2021 Jun 24. doi: 10.3390/children8070540
PMCID:
PMC8305967
ArticlePubReaderPDF–3.5MCite
5.
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation
Rosario Ramos Mejía, Miriam Aza-Carmona, Mariana del Pino, Karen E. Heath, Virginia Fano, Maria Gabriela Obregon
J Pediatr Genet. 2020 Mar; 9(1): 48–52. Published online 2019 Sep 2. doi: 10.1055/s-0039-1695056
PMCID:
PMC6976309
ArticlePubReaderPDF–278KCite
6.
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review
Guixiang Yao, Guangxin Wang, Dawei Wang, Guohai Su
Medicine (Baltimore) 2019 Jan; 98(4): e14157. Published online 2019 Jan 25. doi: 10.1097/MD.0000000000014157
PMCID:
PMC6358355
ArticlePubReaderPDF–728KCite
7.
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia
Tuğba Çetin, Zeynep Şıklar, Pınar Kocaay, Merih Berberoğlu
J Clin Res Pediatr Endocrinol. 2018 Dec; 10(4): 373–376. Published online 2018 Nov 29. doi: 10.4274/jcrpe.0043
PMCID:
PMC6280321
ArticlePubReaderPDF–201KCite
8.
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia
Silvia Elena Yacarini Paredes, Raquel Assed Bezerra Segato, Leila Daher Moreira, Alcides Moreira, Kranya Victoria Díaz Serrano, Clarissa Teles Rodrigues, Luciana Yamamoto Almeida, Jorge Esquiche León
Head Neck Pathol. 2018 Dec; 12(4): 604–609. Published online 2017 Nov 30. doi: 10.1007/s12105-017-0872-4
PMCID:
PMC6232211
ArticlePubReaderPDF–1.4MCite
9.
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
Ikuko Takahashi, Daiki Kondo, Chikako Oyama, Tamami Yano, Hiroaki Tamura, Atsuko Noguchi, Tsutomu Takahashi
Hum Genome Var. 2018; 5: 1. Published online 2018 Apr 12. doi: 10.1038/s41439-018-0001-2
PMCID:
PMC5933720
ArticlePubReaderPDF–427KCite
10.
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3
Hiroki Hirai, Junpei Hamada, Kosei Hasegawa, Eiichi Ishii
Clin Pediatr Endocrinol. 2017; 26(4): 223–228. Published online 2017 Sep 28. doi: 10.1297/cpe.26.223
PMCID:
PMC5627223
ArticlePubReaderPDF–991KCite
11.
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
Manal Mustafa, Nabil Moghrabi, Bassam Bin-Abbas
Case Rep Endocrinol. 2014; 2014: 840492. Published online 2014 Nov 19. doi: 10.1155/2014/840492
PMCID:
PMC4255054
ArticlePubReaderPDF–1.1MCite
12.
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)
Kyung Eui Park, Sung Ah Kim, Moon Joo Kang, Hee Sun Kim, Sung Im Cho, Kyoung Won Yoo, So Yeon Kim, Hye Jun Lee, Sun Kyung Oh, Moon-Woo Seong, Seung-Yup Ku, Jong Kwan Jun, Sung Sup Park, Young Min Choi, Shin Yong Moon
Clin Exp Reprod Med. 2013 Mar; 40(1): 42–46. Published online 2013 Mar 31. doi: 10.5653/cerm.2013.40.1.42
PMCID:
PMC3630293
ArticlePubReaderPDF–444KCite
13.
Treatment of Varus Deformities of the Lower Limbs in Patients with Achondroplasia and Hypochondroplasia
Ali Al Kaissi, Sebastian Farr, Rudolf Ganger, Jochen G Hofstaetter, Klaus Klaushofer, Franz Grill
Open Orthop J. 2013; 7: 33–39. Published online 2013 Feb 8. doi: 10.2174/1874325001307010033
PMCID:
PMC3580759
ArticlePubReaderPDF–1.2MCite
14.
Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3
Hüseyin Anıl Korkmaz, Filiz Hazan, Ceyhun Dizdarer, Ajlan Tükün
J Clin Res Pediatr Endocrinol. 2012 Dec; 4(4): 220–222. Published online 2012 Dec 19. doi: 10.4274/Jcrpe.787
PMCID:
PMC3537291
ArticlePubReaderPDF–349KCite
15.
Hypochondroplasia.
J F Glasgow, N C Nevin, P S Thomas
Arch Dis Child. 1978 Nov; 53(11): 868–872. doi: 10.1136/adc.53.11.868
PMCID:
PMC1545272
SummaryPage BrowsePDF–1.2MCite
16.
Clinical and genetic heterogeneity of hypochondroplasia.
F Rousseau, J Bonaventure, L Legeai-Mallet, H Schmidt, J Weissenbach, P Maroteaux, A Munnich, M Le Merrer
J Med Genet. 1996 Sep; 33(9): 749–752. doi: 10.1136/jmg.33.9.749
PMCID:
PMC1050728
SummaryPage BrowsePDF–1.0MCite
17.
Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes
Victor A. McKusick, Thaddeus E. Kelly, John P. Dorst
J Med Genet. 1973 Mar; 10(1): 11–16. doi: 10.1136/jmg.10.1.11
PMCID:
PMC1012968
SummaryPage BrowsePDF–2.1MCite
18.
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.
F Oberklaid, D M Danks, F Jensen, L Stace, S Rosshandler
J Med Genet. 1979 Apr; 16(2): 140–146. doi: 10.1136/jmg.16.2.140
PMCID:
PMC1012739
SummaryPage BrowsePDF–1.2MCite
19.
Retracted: Effect of HCH Nutrition Management Combined with Early Exercise Nursing on Nutrition Status and Postoperative Rehabilitation of Patients after Gastric Cancer Surgery
Evidence-Based Complementary and Alternative Medicine
Evid Based Complement Alternat Med. 2023; 2023: 9792489. Published online 2023 Aug 9. doi: 10.1155/2023/9792489
Retracts:
Evid Based Complement Alternat Med. 2022; 2022: 2813050.
PMCID:
PMC10432127
RetractionPDF–117KCite
20.
The application of the county medical community HCH model in postoperative nutrition management for patients with advanced gastrointestinal carcinoma
Feng Tong, Huifang Yang, Haihua Pan, Longfei Zhang, Xia Zhang
Am J Transl Res. 2023; 15(3): 2075–2083. Published online 2023 Mar 15.
PMCID:
PMC10086927
ArticlePubReaderPDF–284KCite

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