Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1975 3
1978 1
1980 1
1981 1
1982 3
1983 1
1984 2
1985 2
1986 1
1987 2
1988 4
1989 2
1990 3
1991 11
1992 6
1993 10
1994 7
1995 11
1996 10
1997 4
1998 13
1999 4
2000 9
2001 19
2002 13
2003 12
2004 14
2005 19
2006 21
2007 18
2008 13
2009 16
2010 19
2011 19
2012 18
2013 20
2014 17
2015 25
2016 19
2017 25
2018 25
2019 28
2020 22
2021 25
2022 24
2023 20
2024 10

Text availability

Article attribute

Article type

Publication date

Search Results

516 results

Results by year

Filters applied: . Clear all
The following term was not found in PubMed: Dauber-Argente
Page 1
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Gravholt CH, et al. Nat Rev Endocrinol. 2019 Oct;15(10):601-614. doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18. Nat Rev Endocrinol. 2019. PMID: 31213699 Review.
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadis …
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic ka …
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 …
Current Overview of Osteogenesis Imperfecta.
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T. Deguchi M, et al. Medicina (Kaunas). 2021 May 10;57(5):464. doi: 10.3390/medicina57050464. Medicina (Kaunas). 2021. PMID: 34068551 Free PMC article. Review.
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the produ …
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone …
The Changing Face of Turner Syndrome.
Gravholt CH, Viuff M, Just J, Sandahl K, Brun S, van der Velden J, Andersen NH, Skakkebaek A. Gravholt CH, et al. Endocr Rev. 2023 Jan 12;44(1):33-69. doi: 10.1210/endrev/bnac016. Endocr Rev. 2023. PMID: 35695701 Review.
It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions …
It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ova …
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 …
[Mucopolysaccharidosis: A review].
Michaud M, Belmatoug N, Catros F, Ancellin S, Touati G, Levade T, Gaches F. Michaud M, et al. Rev Med Interne. 2020 Mar;41(3):180-188. doi: 10.1016/j.revmed.2019.11.010. Epub 2020 Jan 17. Rev Med Interne. 2020. PMID: 31959364 Review. French.
The severity of mucopolysaccharidosis is variable with lethal forms in utero and attenuated forms diagnosed in adults. The most common symptoms are short stature, facial dysmorphism, chronic articular pains that can mimic chronic inflammatory rheumatism, axial and p …
The severity of mucopolysaccharidosis is variable with lethal forms in utero and attenuated forms diagnosed in adults. The most common sympt …
Who to screen and how to screen for celiac disease.
Singh P, Singh AD, Ahuja V, Makharia GK. Singh P, et al. World J Gastroenterol. 2022 Aug 28;28(32):4493-4507. doi: 10.3748/wjg.v28.i32.4493. World J Gastroenterol. 2022. PMID: 36157923 Free PMC article. Review.
The typical manifestations of CeD such as chronic diarrhea and malabsorption are widely recognized, however, many patients have atypical manifestations like iron deficiency anemia, idiopathic short stature, hypertransaminesemia or infertility, etc. These patients of …
The typical manifestations of CeD such as chronic diarrhea and malabsorption are widely recognized, however, many patients have atypical man …
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, 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. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short …
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related …
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. ...It is possible to use prenatal ultrasonography to observe pr …
The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities af …
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.
Importantly, the negative association of GH signaling with longevity extends to other mammalian species, apparently including humans. Data obtained in humans with IGHD type 1B, owing to a mutation of the GHRH receptor gene, in the Itabaianinha County, Brazil, provide a uni …
Importantly, the negative association of GH signaling with longevity extends to other mammalian species, apparently including humans. Data o …
516 results