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

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 2
1980 1
1986 1
1990 1
1995 1
1998 1
1999 4
2000 15
2001 19
2002 19
2003 16
2004 9
2005 12
2006 5
2007 21
2008 12
2009 15
2010 9
2011 8
2012 10
2013 14
2014 11
2015 7
2016 10
2017 14
2018 17
2019 21
2020 12
2021 7
2022 10
2023 7
2024 8

Text availability

Article attribute

Article type

Publication date

PubMed for id: 1675945

294 results

Results by year

Filters applied: . Clear all
Page 1
Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.
Abuzenadah A, Alganmi N, AlQurashi R, Hawsa E, AlOtibi A, Hummadi A, Nahari AA, AlZelaye S, Aljuhani NR, Al-Attas M, Abusamra H, Turkistany S, Karim S, Mirza Z, Al-Qahtani M, Chaudhary A, Al Eissa MM. Abuzenadah A, et al. J Epidemiol Glob Health. 2024 Mar;14(1):162-168. doi: 10.1007/s44197-023-00182-5. Epub 2024 Jan 17. J Epidemiol Glob Health. 2024. PMID: 38231342 Free PMC article.
Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.
Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem MC; Network « Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité » (PRISIS); Vigouroux C, Dumas A. Mosbah H, et al. Eur J Endocrinol. 2024 Jan 3;190(1):23-33. doi: 10.1093/ejendo/lvad169. Eur J Endocrinol. 2024. PMID: 38128113
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
294 results