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
1978 1
1979 3
1980 1
1983 2
1984 1
1985 2
1987 1
1990 1
1992 3
1993 6
1994 6
1995 5
1996 8
1997 1
1998 8
1999 7
2000 4
2001 2
2002 6
2003 5
2004 2
2005 4
2006 7
2007 7
2008 2
2009 6
2010 5
2011 3
2012 5
2013 8
2014 3
2015 5
2016 6
2017 4
2018 6
2019 6
2020 4
2021 5
2022 3
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

163 results

Results by year

Filters applied: . Clear all
Page 1
Leber congenital amaurosis.
Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: rozet jm. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.
Congenital Microcoria: Clinical Features and Molecular Genetics.
Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L. Angée C, et al. Among authors: rozet jm. Genes (Basel). 2021 Apr 22;12(5):624. doi: 10.3390/genes12050624. Genes (Basel). 2021. PMID: 33922078 Free PMC article. Review.
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: rozet jm. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: rozet jm. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
[Hereditary macular dystrophies].
Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J. Rozet JM, et al. J Fr Ophtalmol. 2005 Jan;28(1):113-24. doi: 10.1016/s0181-5512(05)81033-2. J Fr Ophtalmol. 2005. PMID: 15767907 Review. French.
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, Abouaf L, Bouhour F, Kaplan J, Putoux A, Pegat A, Rozet JM. Gerber S, et al. Among authors: rozet jm. EMBO Mol Med. 2023 Aug 7;15(8):e16090. doi: 10.15252/emmm.202216090. Epub 2023 Jul 11. EMBO Mol Med. 2023. PMID: 37431816 Free PMC article.
163 results