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1963
2025

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

Year Number of Results
1963 3
1964 3
1965 2
1966 3
1967 6
1968 12
1969 13
1970 15
1971 9
1972 23
1973 14
1974 15
1975 20
1976 18
1977 15
1978 12
1979 12
1980 15
1981 17
1982 19
1983 18
1984 17
1985 16
1986 17
1987 33
1988 27
1989 27
1990 34
1991 43
1992 37
1993 67
1994 52
1995 48
1996 52
1997 44
1998 57
1999 38
2000 55
2001 90
2002 50
2003 44
2004 56
2005 49
2006 87
2007 54
2008 66
2009 53
2010 49
2011 63
2012 48
2013 79
2014 57
2015 80
2016 72
2017 86
2018 68
2019 64
2020 76
2021 99
2022 73
2023 85
2024 61
2025 1

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2,384 results

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Page 1
Achondroplasia: a comprehensive clinical review.
Pauli RM. Pauli RM. Orphanet J Rare Dis. 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6. Orphanet J Rare Dis. 2019. PMID: 30606190 Free PMC article. Review.
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical …
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although i …
Hypothyroidism and hyperthyroidism.
Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, Tezzele S, Cecchin S, Scaramuzza A, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):83-86. doi: 10.23750/abm.v90i10-S.8765. Acta Biomed. 2019. PMID: 31577260 Free PMC article. Review.
Without treatment, congenital hypothyroidism leads to severe intellectual deficit and short stature. Congenital hyperthyroidism occurs when the thyroid gland produces too much of the hormone thyroxine, which can accelerate body metabolism, causing unintention …
Without treatment, congenital hypothyroidism leads to severe intellectual deficit and short stature. Congenital hyperth …
Genetic evaluation in children with short stature.
Zhou E, Hauser BR, Jee YH. Zhou E, et al. Curr Opin Pediatr. 2021 Aug 1;33(4):458-463. doi: 10.1097/MOP.0000000000001033. Curr Opin Pediatr. 2021. PMID: 34101704 Free PMC article. Review.
PURPOSE OF REVIEW: Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the majority of children with short stature by a routine screening approach. The purpose of this review is to describe the optimal …
PURPOSE OF REVIEW: Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the m …
Evaluation of Short Stature in Children and Adolescents.
Patel R, Bajpai A. Patel R, et al. Indian J Pediatr. 2021 Dec;88(12):1196-1202. doi: 10.1007/s12098-021-03880-9. Epub 2021 Aug 16. Indian J Pediatr. 2021. PMID: 34398416 Review.
Short stature is a common presentation to pediatricians with a significant overlap between physiology and pathology. Thus, while most short children have a physiological cause, growth failure may be the only manifestation of severe underlying disease.
Short stature is a common presentation to pediatricians with a significant overlap between physiology and pathology. Thus, whi
Growth Hormone Deficiency: Health and Longevity.
Aguiar-Oliveira MH, Bartke A. Aguiar-Oliveira MH, et al. Endocr Rev. 2019 Apr 1;40(2):575-601. doi: 10.1210/er.2018-00216. Endocr Rev. 2019. PMID: 30576428 Free PMC article. Review.
The unexpected, remarkable longevity benefit of severe endocrine defects in these animals presumably represents evolutionarily conserved trade-offs among aging, growth, maturation, fecundity, and the underlying anabolic processes. ...Individuals with IGHD are characterized …
The unexpected, remarkable longevity benefit of severe endocrine defects in these animals presumably represents evolutionarily conser …
New developments in the genetic diagnosis of short stature.
Jee YH, Baron J, Nilsson O. Jee YH, et al. Curr Opin Pediatr. 2018 Aug;30(4):541-547. doi: 10.1097/MOP.0000000000000653. Curr Opin Pediatr. 2018. PMID: 29787394 Free PMC article. Review.
In addition, novel genetic causes of syndromic short stature have been discovered, including pathogenic variants in BRCA1, DONSON, AMMECR1, NFIX, SLC25A24, and FN1. ...The identification of novel genetic causes of short stature has provided important i …
In addition, novel genetic causes of syndromic short stature have been discovered, including pathogenic variants in BRCA1, DON …
Bone dysplasia.
Linglart A, Merzoug V, Lambert AS, Adamsbaum C. Linglart A, et al. Ann Endocrinol (Paris). 2017 Jun;78(2):114-122. doi: 10.1016/j.ando.2017.04.011. Epub 2017 May 8. Ann Endocrinol (Paris). 2017. PMID: 28495326 Review.
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features su …
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreas …
New treatments for children with achondroplasia.
Savarirayan R, Hoover-Fong J, Yap P, Fredwall SO. Savarirayan R, et al. Lancet Child Adolesc Health. 2024 Apr;8(4):301-310. doi: 10.1016/S2352-4642(23)00310-3. Lancet Child Adolesc Health. 2024. PMID: 38485412 Review.
Achondroplasia is the most common form of dwarfism in humans, caused by a common pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which impairs the process of endochondral ossification of the growing skeleton. ...
Achondroplasia is the most common form of dwarfism in humans, caused by a common pathogenic variant in the gene encoding fibroblast g …
Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency.
Ranke MB. Ranke MB. Front Endocrinol (Lausanne). 2021 Sep 1;12:720419. doi: 10.3389/fendo.2021.720419. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34539573 Free PMC article. Review.
Its non-acquired variant (naGHD) is, at childhood onset, a rare syndrome of multiple etiologies, predominantly characterized by severe and permanent growth failure culminating in short stature. It is still difficult to diagnose GHD and, in particular, to asce …
Its non-acquired variant (naGHD) is, at childhood onset, a rare syndrome of multiple etiologies, predominantly characterized by severe
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Horm Res Paediatr. 2020. PMID: 32756064 Free PMC article. Review.
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as h …
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydacty …
2,384 results