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Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M. Cheung MS, et al. Am J Med Genet A. 2024 Feb;194(2):243-252. doi: 10.1002/ajmg.a.63431. Epub 2023 Oct 9. Am J Med Genet A. 2024. PMID: 37814549
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. ...
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference …
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
Sağlam H, Erdöl Ş, Dorum S. Sağlam H, et al. J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):229-236. doi: 10.4274/jcrpe.4549. Epub 2017 Jun 30. J Clin Res Pediatr Endocrinol. 2017. PMID: 28663156 Free PMC article.
CONCLUSION: Because of the respiratory problems, especially the lung hypoplasia, the clinical course is poor in cases with the perinatal lethal form of HPP. Some minor abnormalities such as mild short stature and osteopenia could be observed in asymptomatic h …
CONCLUSION: Because of the respiratory problems, especially the lung hypoplasia, the clinical course is poor in cases with the perinatal let …
Effects of Astragalus Extract Mixture HT042 on Height Growth in Children with Mild Short Stature: A Multicenter Randomized Controlled Trial.
Lee D, Lee SH, Song J, Jee HJ, Cha SH, Chang GT. Lee D, et al. Phytother Res. 2018 Jan;32(1):49-57. doi: 10.1002/ptr.5886. Epub 2017 Nov 12. Phytother Res. 2018. PMID: 29130588 Clinical Trial.
We aimed to evaluate the safety and efficacy of HT042 on height growth in children with mild short stature. A multicenter, randomized, double-blind, placebo-controlled parallel study was performed on children aged 6-8 years with height ranked below the 25th p …
We aimed to evaluate the safety and efficacy of HT042 on height growth in children with mild short stature. A multicent …
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?
Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M. Tüysüz B, et al. Am J Med Genet A. 2016 May;170A(5):1187-95. doi: 10.1002/ajmg.a.37543. Epub 2016 Jan 8. Am J Med Genet A. 2016. PMID: 26749367
Mucolipidosis IIIalpha/beta (MLIIIalpha/beta) is a rare lysosomal storage disorder characterized by childhood onset of flexion contractures of fingers, joint stiffness in the shoulders, hips, and knees, and mild short stature. Recessive mutations in the GNPTA …
Mucolipidosis IIIalpha/beta (MLIIIalpha/beta) is a rare lysosomal storage disorder characterized by childhood onset of flexion contractures …
Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.
Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH; German KIMS Board; German KIMS Pharmacogenetics Study Group. Meyer S, et al. Growth Horm IGF Res. 2007 Aug;17(4):307-14. doi: 10.1016/j.ghir.2007.03.001. Epub 2007 Apr 25. Growth Horm IGF Res. 2007. PMID: 17462934
After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD). For further …
After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late a …
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Rock MJ, et al. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587396 Free PMC article.
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1 …
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosi …
Long-term follow-up of diffuse membranoproliferative glomerulonephritis type I.
Yanagihara T, Hayakawa M, Yoshida J, Tsuchiya M, Morita T, Murakami M, Fukunaga Y. Yanagihara T, et al. Pediatr Nephrol. 2005 May;20(5):585-90. doi: 10.1007/s00467-005-1826-8. Epub 2005 Mar 22. Pediatr Nephrol. 2005. PMID: 15782302
Moreover, no severe adverse effects attributable to treatment were identified other than mild short stature. Early detection and therapy using pulse methylprednisolone followed by alternate-day prednisolone was thus confirmed as safe and useful for treating d …
Moreover, no severe adverse effects attributable to treatment were identified other than mild short stature. Early dete …
A novel pattern of oculocerebral malformation.
Clark BJ, Lee WR, Doyle D, Arngrimsson R, Tolmie JL, Stephenson JB. Clark BJ, et al. Br J Ophthalmol. 1997 Jun;81(6):470-5. doi: 10.1136/bjo.81.6.470. Br J Ophthalmol. 1997. PMID: 9274411 Free PMC article.
Cytogenetic investigation revealed a balanced reciprocal translocation (46,XX,t(5p11;19q13.1)) that was inherited from the mother and was present in several normal relatives. Mild short stature and profound mental handicap were evident. The child died aged 7 …
Cytogenetic investigation revealed a balanced reciprocal translocation (46,XX,t(5p11;19q13.1)) that was inherited from the mother and was pr …