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

92 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Germline mosaicism in Rubinstein-Taybi syndrome.
Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A. Tajir M, et al. Among authors: fergelot p. Gene. 2013 Apr 15;518(2):476-8. doi: 10.1016/j.gene.2012.12.105. Epub 2013 Jan 23. Gene. 2013. PMID: 23352794
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C. Nurden P, et al. Among authors: fergelot p. Blood. 2011 Nov 24;118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29. Blood. 2011. PMID: 21960593 Free article.
[Costello syndrome: report of a case].
Tajir M, Fergelot P, Lancelot G, Arveiler B, Elalaoui SC, Lacombe D, Sefiani A. Tajir M, et al. Among authors: fergelot p. Pan Afr Med J. 2012;12:64. Epub 2012 Jul 4. Pan Afr Med J. 2012. PMID: 23024823 Free PMC article. French.
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.
Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C. Moutton S, et al. Among authors: fergelot p. Parkinsonism Relat Disord. 2014 Aug;20(8):935-7. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9. Parkinsonism Relat Disord. 2014. PMID: 24907184 No abstract available.
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Among authors: fergelot p. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: fergelot p. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
92 results