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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Arnaud P, et al. Among authors: spentchian m. J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. J Med Genet. 2017. PMID: 27582083 Free article.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, Olin V, Massimello M, Lehalle D, Mouthon L, Whalen S, Faudet A, Mignot C, Garel C, Blondiaux E, Lefebvre M, Quenum-Miraillet G, Chantot-Bastaraud S, Milh M, Bretelle F, Portes VD, Guibaud L, Putoux A, Tsatsaris V, Spodenkiewic M, Layet V, Dard R, Mandelbrot L, Guet A, Moutton S, Gorce M, Nizon M, Vincent M, Beneteau C, Rocchisanni MA, Benachi A, Saada J, Attié-Bitach T, Guilbaud L, Maurice P, Friszer S, Jouannic JM, de Villemeur TB, Moutard ML, Keren B, Héron D. Heide S, et al. Among authors: spentchian m. Genet Med. 2020 Nov;22(11):1887-1891. doi: 10.1038/s41436-020-0872-8. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565546 Free article.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C. Nguyen T, et al. Among authors: spentchian m. Prenat Diagn. 2023 Jun;43(6):746-755. doi: 10.1002/pd.6382. Epub 2023 May 23. Prenat Diagn. 2023. PMID: 37173814
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Extramiana F, Milleron O, Elbitar S, Uccellini A, Langeois M, Spentchian M, Delorme G, Arnoult F, Denjoy I, Bouleti C, Fressart V, Iserin F, Maison-Blanche P, Abifadel M, Leenhardt A, Boileau C, Jondeau G. Extramiana F, et al. Among authors: spentchian m. Sci Rep. 2018 Aug 29;8(1):13019. doi: 10.1038/s41598-018-31298-5. Sci Rep. 2018. PMID: 30158670 Free PMC article.
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, Jeremy R, Odent S, Adès LC, Bakshi M, Holman K, LeMaire S, Milleron O, Langeois M, Spentchian M, Aubart M, Boileau C, Pyeritz R, Milewicz DM; Montalcino Aortic Consortium. Jondeau G, et al. Among authors: spentchian m. Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21. Circ Cardiovasc Genet. 2016. PMID: 27879313 Free PMC article.
Leon's helmet.
Gonzalez H, Marceau-Renaut A, Spentchian M, Hassoun M, Guignedoux G. Gonzalez H, et al. Among authors: spentchian m. Haematologica. 2023 May 1;108(5):1450-1451. doi: 10.3324/haematol.2022.281125. Haematologica. 2023. PMID: 36226490 Free PMC article. No abstract available.
A third anti-SARS-CoV-2 mRNA dose does not overcome the pejorative impact of anti-CD20 therapy and/or low immunoglobulin levels in patients with lymphoma or chronic lymphocytic leukemia.
Kohn M, Delord M, Chbat M, Guemriche A, Merabet F, Roupie AL, Lombion N, Farhat H, Longval T, Cabannes-Hamy A, Lambert J, Marque-Juillet S, Raggueneau V, Osman J, Spentchian M, Rigaudeau S, Rousselot P, Besson C. Kohn M, et al. Among authors: spentchian m. Haematologica. 2022 Jun 1;107(6):1454-1459. doi: 10.3324/haematol.2021.280026. Haematologica. 2022. PMID: 34788987 Free PMC article. No abstract available.
23 results