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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1986 1
2012 2
2013 1
2016 3
2017 2
2018 5
2019 2
2020 3
2021 7
2022 8
2023 9
2024 14
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

51 results

Results by year

Filters applied: . Clear all
Page 1
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M. Jacquin C, et al. Among authors: spodenkiewicz m. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36369750 Free PMC article.
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: spodenkiewicz m. Am J Med Genet A. 2024 Jul;194(7):e63531. doi: 10.1002/ajmg.a.63531. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421086 Review.
French guidelines for the diagnosis and management of Tourette syndrome.
Hartmann A, Ansquer S, Brefel-Courbon C, Burbaud P, Castrioto A, Czernecki V, Damier P, Deniau E, Drapier S, Jalenques I, Marechal O, Priou T, Spodenkiewicz M, Thobois S, Roubertie A, Witjas T, Anheim M. Hartmann A, et al. Among authors: spodenkiewicz m. Rev Neurol (Paris). 2024 Oct;180(8):818-827. doi: 10.1016/j.neurol.2024.04.005. Epub 2024 May 17. Rev Neurol (Paris). 2024. PMID: 38760282
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: spodenkiewicz m. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Among authors: spodenkiewicz m. Am J Hum Genet. 2024 Jun 6;111(6):1184-1205. doi: 10.1016/j.ajhg.2024.04.014. Epub 2024 May 13. Am J Hum Genet. 2024. PMID: 38744284 Free PMC article.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Devillard F, Dieterich K, Vieville G, Kuentz P, le Caignec C, Beneteau C, Isidor B, Nizon M, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Lyonnet S, Baujat G, Rio M, Cartault F, Scheidecker S, Gouronc A, Schalk A, Jacquin C, Spodenkiewicz M, Angélini C, Pennamen P, Rooryck C, Doco-Fenzy M, Poirsier C. Jouret G, et al. Among authors: spodenkiewicz m. Am J Med Genet A. 2023 Jan;191(1):52-63. doi: 10.1002/ajmg.a.62983. Epub 2022 Oct 5. Am J Med Genet A. 2023. PMID: 36196855
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M, Spodenkiewicz M, Cleary M, Massier M, Fitsialos G, Cottin V, Jouret G, Poirsier C, Doco-Fenzy M, Lèbre AS. Spodenkiewicz M, et al. Biology (Basel). 2020 May 21;9(5):108. doi: 10.3390/biology9050108. Biology (Basel). 2020. PMID: 32455636 Free PMC article. Review.
[An overview of suicide risk in adolescence].
Lachal J, Moro MR, Spodenkiewicz M. Lachal J, et al. Among authors: spodenkiewicz m. Soins Psychiatr. 2018 May-Jun;39(316):10-13. doi: 10.1016/j.spsy.2018.03.002. Soins Psychiatr. 2018. PMID: 29753431 Review. French.
51 results