Stichelbout M - Search Results

1

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F. Stichelbout M, et al. Am J Med Genet A. 2016 Mar;170(3):785-9. doi: 10.1002/ajmg.a.37473. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26573129 Review. No abstract available.

2

[Twin pregnancy with complete mole and coexisting fetus: Reach fetal viability is possible].

Arsène E, Clouqueur E, Stichelbout M, Devisme L, Vaast P, Subtil D. Arsène E, et al. Among authors: stichelbout m. J Gynecol Obstet Biol Reprod (Paris). 2015 Nov;44(9):887-90. doi: 10.1016/j.jgyn.2015.01.012. Epub 2015 Feb 24. J Gynecol Obstet Biol Reprod (Paris). 2015. PMID: 25721351 French.

3

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: stichelbout m. Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16. Genet Med. 2017. PMID: 28301459 Free article.

4

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Brunelle P, Jourdain AS, Escande F, Martinovic J, Dupont J, Busa T, Moncla A, Frénois F, Stichelbout M, Manouvrier-Hanu S, Petit F. Brunelle P, et al. Among authors: stichelbout m. Am J Med Genet A. 2019 Jul;179(7):1351-1356. doi: 10.1002/ajmg.a.61177. Epub 2019 May 3. Am J Med Genet A. 2019. PMID: 31050392 Review.

5

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Ghoumid J, Lejeune S, Renaud F, Stichelbout M, Petit F, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: stichelbout m. Genet Med. 2020 Oct;22(10):1727-1728. doi: 10.1038/s41436-020-0849-7. Epub 2020 Jun 2. Genet Med. 2020. PMID: 32483297 Free article. No abstract available.

6

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Among authors: stichelbout m. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658

7

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Ghesh L, Musquer MD, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, Winer N, Joubert M, Bezieau S, Thomas S, Attie-Bitach T, Beneteau C. Ghesh L, et al. Among authors: stichelbout m. Clin Genet. 2021 Oct;100(4):462-467. doi: 10.1111/cge.14021. Epub 2021 Jul 13. Clin Genet. 2021. PMID: 34212369

8

Perinatal outcome of placental massive perivillous fibrin deposition: a case-control study.

Devisme L, Chauvière C, Franquet-Ansart H, Chudzinski A, Stichelbout M, Houfflin-Debarge V, Subtil D. Devisme L, et al. Among authors: stichelbout m. Prenat Diagn. 2017 Apr;37(4):323-328. doi: 10.1002/pd.5013. Epub 2017 Mar 24. Prenat Diagn. 2017. PMID: 28152557

9

Is chronic histiocytic intervillositis a severe placental disease? A case-control study.

Homatter C, Stichelbout M, Devisme L, Chudzinski A, Debarge V, Garabedian C, Subtil D. Homatter C, et al. Among authors: stichelbout m. Placenta. 2020 Feb;91:31-36. doi: 10.1016/j.placenta.2019.12.020. Epub 2019 Dec 31. Placenta. 2020. PMID: 32174304

10

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.

Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E. Coste T, et al. Among authors: stichelbout m. Prenat Diagn. 2022 May;42(5):601-610. doi: 10.1002/pd.6113. Epub 2022 Feb 20. Prenat Diagn. 2022. PMID: 35150448 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

18 results

Search Page