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Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"
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참고문헌 (15)
- Dauber A, "Genetic evaluation of short stature", J Clin Endocrinol Metab, 99, pp.3080~3092 (2014)
- Blum WF, "Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion : frequencies, phenotypes and growth outcomes", EBioMedicine, 36, pp.390~400 (2018)
- Wood AR, "Defining the role of common variation in the genomic and biological architecture of adult human height", Nat Genet, 46, pp.1173~1186 (2014)
- Baron J, "Short and tall stature : a new paradigm emerges", Nat Rev Endocrinol, 11, pp.735~746 (2015)
- Saltarelli MA, "Growth plate extracellular matrix defects and short stature in children", Ann Pediatr Endocrinol Metab, 27, pp.247~255 (2022)
- Wit JM, "Towards a rational and efficient diagnostic approach in children referred for growth failure to the general paediatrician", Horm Res Paediatr, 91, pp.223~240 (2019)
- Mintz CS, "Focused revision : ACMG practice resource : genetic evaluation of short stature", Genet Med, 23, pp.813~815 (2021)
- Savage MO, "Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches", Ann Pediatr Endocrinol Metab, 26, pp.218~226 (2021)
- Zhou E, "Genetic evaluation in children with short stature", Curr Opin Pediatr, 33, pp.458~463 (2021)
- Sentchordi-Montane L, "High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies", Eur J Endocrinol, 185, pp.691~705 (2021)
- Freire BL, "Multigene sequencing analysis of children born small for gestational age with isolated short stature", J Clin Endocrinol Metab, 104, pp.2023~2030 (2019)
- Kim YM, "High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing", Clin Genet, 92, pp.594~605 (2017)
- Kim SJ, "Genetic evaluation using next-generation sequencing of children with short stature : a single tertiary-center experience", Ann Pediatr Endocrinol Metab, 29, pp.38~46 (2024)
- Song A, "First female Korean child with Coffin-Lowry syndrome : a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review", Ann Pediatr Endocrinol Metab, 28, pp.67~72 (2023)
- Kim MR, "Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome : a case report and review", Ann Pediatr Endocrinol Metab, 28(Suppl 1), pp.S25~S28 (2023)
관련 논문AI추천
Commentary on "Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders"Cho Won Kyoung대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제3호Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience김수진, 이지은, Joo Eunyoung, Park Jisun, Seol Chang Ahn대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제1호Commentary on "Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study"Kim Minsun대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제6호Balanced assessment of growth disorders using clinical, endocrinological, and genetic approachesSavage Martin Oswald, Storr Helen Louise대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2021 · 제26권 제4호Commentary on “Growth plate extracellular matrix defects and short stature in children”Kim Se Young대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2022 · 제27권 제4호Commentary on "Somatrogon in pediatric growth hormone deficiency: a comprehensive review of clinical trials and real-world considerations"Kim Yoo-Mi대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2025 · 제30권 제1호
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