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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 2
1965 1
1969 1
1971 3
1972 2
1973 2
1974 4
1975 3
1976 4
1977 1
1978 1
1979 3
1980 3
1981 1
1982 1
1984 1
1985 3
1986 2
1987 1
1988 4
1989 2
1990 4
1991 9
1992 2
1993 2
1994 5
1995 9
1996 13
1997 5
1998 11
1999 13
2000 9
2001 8
2002 2
2003 9
2004 4
2005 6
2006 8
2007 9
2008 7
2009 10
2010 6
2011 7
2012 13
2013 11
2014 19
2015 9
2016 7
2017 14
2018 13
2019 7
2020 11
2021 4
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289 results
Results by year
Filters applied: . Clear all The following term was ignored: " The following term was not found in PubMed: Serum+NT-ProCNP+Levels+Increased+after+Initiation+of+GH+Treatment+in+Patients+with+Achondroplasia
Page 1
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay a …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in …
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.
Kubota T, Wang W, Miura K, Nakayama H, Yamamoto K, Fujiwara M, Ohata Y, Tachibana M, Kitaoka T, Takakuwa S, Miyoshi Y, Namba N, Ozono K. Kubota T, et al. Clin Endocrinol (Oxf). 2016 Jun;84(6):845-50. doi: 10.1111/cen.13025. Epub 2016 Feb 25. Clin Endocrinol (Oxf). 2016. PMID: 26814021
The usefulness of NT-proCNP in patients with achondroplasia (ACH)/hypochondroplasia (HCH) remains to be elucidated. The objective was to study whether serum NT-proCNP level is a good biomarker for growth in ACH/HCH and other patients of short stature. ...
The usefulness of NT-proCNP in patients with achondroplasia (ACH)/hypochondroplasia (HCH) remains to be elucidated. The objective was …
Hypochondroplasia.
Bober MB, Bellus GA, Nikkel SM, Tiller GE. Bober MB, et al. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301650 Free Books & Documents. Review.
Identification of a heterozygous FGFR3 pathogenic variant known to be associated with hypochondroplasia can confirm the diagnosis and help distinguish hypochondroplasia from achondroplasia and other related skeletal dysplasias in individuals with overlapping phenoty …
Identification of a heterozygous FGFR3 pathogenic variant known to be associated with hypochondroplasia can confirm the diagnosis and …
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia.
Kaissi AA, Farr S, Ganger R, Hofstaetter JG, Klaushofer K, Grill F. Kaissi AA, et al. Open Orthop J. 2013;7:33-9. doi: 10.2174/1874325001307010033. Epub 2013 Feb 8. Open Orthop J. 2013. PMID: 23459260 Free PMC article.
The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual growth of the fibulae than that of the tibiae. ...
The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual …
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L. Lorget F, et al. Am J Hum Genet. 2012 Dec 7;91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200862 Free PMC article.
Thus, our results provide the proof of concept that BMN 111, a NEP-resistant CNP analog, might benefit individuals with ACH and hypochondroplasia....
Thus, our results provide the proof of concept that BMN 111, a NEP-resistant CNP analog, might benefit individuals with ACH and hypochond
Hypochondroplasia.
Specht EE, Daentl DL. Specht EE, et al. Clin Orthop Relat Res. 1975 Jul-Aug;(110):249-55. doi: 10.1097/00003086-197507000-00036. Clin Orthop Relat Res. 1975. PMID: 1098822 Review.
Hypochondroplasia is a hereditary form of short-limbed dwarfism which somewhat resembles achondroplasia, but which is clinically, roentgenographically, and genetically distinct. ...Orthopedists should be aware of this entity, which may be somewhat more common than has been
Hypochondroplasia is a hereditary form of short-limbed dwarfism which somewhat resembles achondroplasia, but which is clinically, roe
Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia.
Çetin T, Şıklar Z, Kocaay P, Berberoğlu M. Çetin T, et al. J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):373-376. doi: 10.4274/jcrpe.0043. Epub 2018 May 9. J Clin Res Pediatr Endocrinol. 2018. PMID: 29739731 Free PMC article.
Hypochondroplasia is a cause of disproportionate short stature and characterized by minor clinical manifestations. ...
Hypochondroplasia is a cause of disproportionate short stature and characterized by minor clinical manifestations. ...
Surgical Results of Limb Lengthening at the Femur, Tibia, and Humerus in Patients with Achondroplasia.
Ko KR, Shim JS, Chung CH, Kim JH. Ko KR, et al. Clin Orthop Surg. 2019 Jun;11(2):226-232. doi: 10.4055/cios.2019.11.2.226. Epub 2019 May 9. Clin Orthop Surg. 2019. PMID: 31156776 Free PMC article.
The purpose of this study was to report the surgical results of a series of limb lengthening in achondroplastic or hypochondroplasia patients at our institution. METHODS: Fifteen patients (14 with achondroplasia and 1 with hypochondroplasia) underwent lower limb len …
The purpose of this study was to report the surgical results of a series of limb lengthening in achondroplastic or hypochondroplasia
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, Wilcox WR. Xue Y, et al. Mol Genet Genomic Med. 2014 Nov;2(6):497-503. doi: 10.1002/mgg3.96. Epub 2014 Aug 5. Mol Genet Genomic Med. 2014. PMID: 25614871 Free PMC article.
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). ...
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanat …
Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review.
Kochar IS, Chugh R. Kochar IS, et al. Pediatr Endocrinol Rev. 2020 Aug;17(4):327-330. doi: 10.17458/per.vol17.2020.kc.ghtreatmentskeletaldysplasia. Pediatr Endocrinol Rev. 2020. PMID: 32780956 Review.
Apart from achondroplasia, studies have also shown positive effect of GH in hypochondroplasia children. However, in hypochondroplasia GH treatment seems to give better results when administered at puberty. ...
Apart from achondroplasia, studies have also shown positive effect of GH in hypochondroplasia children. However, in hypochondropla
289 results
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