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 Custom Filters

Results by year

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

Year Number of Results
1947 1
1996 1
1998 3
1999 1
2000 2
2001 6
2002 3
2003 7
2004 5
2005 9
2006 4
2007 4
2008 9
2009 6
2010 11
2011 15
2012 10
2013 6
2014 10
2015 10
2016 9
2017 6
2018 3
2019 1
2020 1
2021 3
2022 2
2023 2
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

131 results

Results by year

Filters applied: . Clear all
Page 1
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: bonafe l. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Paganini C, et al. Among authors: bonafe l. Bone. 2023 Oct;175:116838. doi: 10.1016/j.bone.2023.116838. Epub 2023 Jul 16. Bone. 2023. PMID: 37454964 Free article.
Current Care and Investigational Therapies in Achondroplasia.
Unger S, Bonafé L, Gouze E. Unger S, et al. Among authors: bonafe l. Curr Osteoporos Rep. 2017 Apr;15(2):53-60. doi: 10.1007/s11914-017-0347-2. Curr Osteoporos Rep. 2017. PMID: 28224446 Free PMC article. Review.
[Short stature].
Bonafé L, Theintz G. Bonafé L, et al. Rev Med Suisse. 2006 Feb 22;2(54):526-31. Rev Med Suisse. 2006. PMID: 16562535 Review. French.
Carnitine deficiency in chronic critical illness.
Bonafé L, Berger MM, Que YA, Mechanick JI. Bonafé L, et al. Curr Opin Clin Nutr Metab Care. 2014 Mar;17(2):200-9. doi: 10.1097/MCO.0000000000000037. Curr Opin Clin Nutr Metab Care. 2014. PMID: 24500444 Review.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: bonafe l. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Among authors: bonafe l. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.
131 results