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

73 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C. Lefebvre M, et al. Among authors: desir j. Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30. Prenat Diagn. 2015. PMID: 25754886
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L. Lehalle D, et al. Among authors: desir j. Am J Med Genet A. 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. Am J Med Genet A. 2017. PMID: 29136349 Review.
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Among authors: desir j. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, Chiarappa P, Courtens W, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Fieuw A, Fransen E, Gatot JS, Holmgren P, Jamar M, Janssens S, Keymolen K, Lederer D, Menten B, Meuwissen M, Parmentier B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vanakker O, Vermeesch J, Janssens K. Muys J, et al. Among authors: desir j. Prenat Diagn. 2018 Dec;38(13):1120-1128. doi: 10.1002/pd.5373. Epub 2018 Nov 14. Prenat Diagn. 2018. PMID: 30334587
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Muys J, Jacquemyn Y, Blaumeiser B, Bourlard L, Brison N, Bulk S, Chiarappa P, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Duquenne A, Fieuw A, Fransen E, Gatot JS, Jamar M, Janssens S, Kerstjens J, Keymolen K, Lederer D, Menten B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vermeesch J, Janssens K. Muys J, et al. Among authors: desir j. Prenat Diagn. 2020 Sep;40(10):1272-1283. doi: 10.1002/pd.5751. Epub 2020 Jun 24. Prenat Diagn. 2020. PMID: 32436253
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, De Coninck C, Derisbourg S, Gajewska K, Garofalo G, Gounongbe C, Guizani M, Holoye A, Houba C, Makhoul J, Norgaard C, Regnard C, Romée S, Soto J, Stagel-Trabbia A, Van Rysselberge M, Vercoutere A, Zaytouni S, Bouri S, D'Haene N, D'Onle D, Dugauquier C, Racu ML, Rocq L, Segers V, Verocq C, Avni EF, Cassart M, Massez A, Blaumeiser B, Brischoux-Boucher E, Bulk S, De Ravel T, Debray G, Dimitrov B, Janssens S, Keymolen K, Laterre M, van Berkel K, Van Maldergem L, Vandernoot I, Vilain C, Donner C, Tecco L, Thomas D, Désir J, Abramowicz M, Migeotte I. Marangoni M, et al. Among authors: desir j. Genet Med. 2022 Feb;24(2):344-363. doi: 10.1016/j.gim.2021.09.016. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906519 Free article.
73 results