408 related articles for article (PubMed ID: 24411048)
1. 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. PubMed ID: 24411048
[TBL] [Abstract][Full Text] [Related]
2. 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; 185(1):73-82. PubMed ID: 33051983
[TBL] [Abstract][Full Text] [Related]
3. 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; 63(2):103659. PubMed ID: 31048079
[TBL] [Abstract][Full Text] [Related]
4. 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; 58(8):705-8. PubMed ID: 26716907
[TBL] [Abstract][Full Text] [Related]
5. [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; 15(11):932-6. PubMed ID: 24229583
[TBL] [Abstract][Full Text] [Related]
6. 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; 423():62-5. PubMed ID: 23726269
[TBL] [Abstract][Full Text] [Related]
7. 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; (210):77-82. PubMed ID: 23045425
[TBL] [Abstract][Full Text] [Related]
8. Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.
Kotysova L; Mattosova S; Chandoga J
Bratisl Lek Listy; 2015; 116(8):465-8. PubMed ID: 26350084
[TBL] [Abstract][Full Text] [Related]
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; 173(4):1097-1101. PubMed ID: 28181399
[TBL] [Abstract][Full Text] [Related]
10. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
Song SH; Balce GC; Agashe MV; Lee H; Hong SJ; Park YE; Kim SG; Song HR
Am J Med Genet A; 2012 Oct; 158A(10):2456-62. PubMed ID: 22903874
[TBL] [Abstract][Full Text] [Related]
11. 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; 164A(7):1784-8. PubMed ID: 24715719
[TBL] [Abstract][Full Text] [Related]
12. Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.
Chen J; Yang J; Zhao S; Ying H; Li G; Xu C
Gene; 2018 Jan; 641():355-360. PubMed ID: 29080836
[TBL] [Abstract][Full Text] [Related]
13. [Prenatal diagnose of abnormalities of fetal limb bone].
Song J; Wang X
Zhonghua Fu Chan Ke Za Zhi; 2010 Oct; 45(10):745-9. PubMed ID: 21176554
[TBL] [Abstract][Full Text] [Related]
14. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with
Riba FRG; Gomes MES; Rabelo NC; Zuma MCC; Llerena JC; Mencalha AL; Gonzalez S
Genet Test Mol Biomarkers; 2021 Oct; 25(10):674-682. PubMed ID: 34672771
[No Abstract] [Full Text] [Related]
15. 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; 39(1):67-71. PubMed ID: 27485793
[TBL] [Abstract][Full Text] [Related]
16. 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; 31(11):1279-1284. PubMed ID: 30335613
[TBL] [Abstract][Full Text] [Related]
17. 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; 176(5):1225-1231. PubMed ID: 29681095
[TBL] [Abstract][Full Text] [Related]
18. Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K; Tanaka H
Pediatr Int; 2014 Dec; 56(6):809-812. PubMed ID: 25244068
[TBL] [Abstract][Full Text] [Related]
19. 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.
Yao G; Wang G; Wang D; Su G
Medicine (Baltimore); 2019 Jan; 98(4):e14157. PubMed ID: 30681580
[TBL] [Abstract][Full Text] [Related]
20. Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare
Ekinci S; Ülger Y; Acar MO; Ceran A; Aycan Z; Fitoz ÖS; Ilgın Ruhi H
J Pediatr Endocrinol Metab; 2022 Aug; 35(8):1097-1101. PubMed ID: 35438268
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
