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Obsessive-compulsive disorder and pelvic organ prolapse.
Tsilanizara A, Karila L, Sallee C, Denys P, Fechner A, Benistan K, Cardot V, Deffieux X. Tsilanizara A, et al. Among authors: benistan k. Prog Urol. 2021 Jun;31(7):445-446. doi: 10.1016/j.purol.2021.02.003. Epub 2021 Feb 26. Prog Urol. 2021. PMID: 33648828 No abstract available.
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J; Bordeaux-cohort collaborators. Billon C, et al. Among authors: benistan k. Orphanet J Rare Dis. 2021 Dec 4;16(1):504. doi: 10.1186/s13023-021-02128-1. Orphanet J Rare Dis. 2021. PMID: 34863227 Free PMC article.
Pain in Ehlers-Danlos syndromes.
Bénistan K, Gillas F. Bénistan K, et al. Joint Bone Spine. 2020 May;87(3):199-201. doi: 10.1016/j.jbspin.2019.09.011. Epub 2019 Sep 25. Joint Bone Spine. 2020. PMID: 31562935 No abstract available.
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Foy M, De Mazancourt P, Métay C, Carlier R, Allamand V, Gartioux C, Gillas F, Miri N, Jobic V, Mekki A, Richard P, Michot C, Benistan K. Foy M, et al. Among authors: benistan k. Clin Case Rep. 2021 Jun 26;9(9):e04128. doi: 10.1002/ccr3.4128. eCollection 2021 Sep. Clin Case Rep. 2021. PMID: 34484741 Free PMC article.
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D. El Chehadeh S, et al. Among authors: benistan k. Clin Genet. 2021 Aug;100(2):206-212. doi: 10.1111/cge.13972. Epub 2021 Apr 29. Clin Genet. 2021. PMID: 33890303
Clinical utility gene card: for pseudoxanthoma elasticum.
Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Among authors: benistan k. Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487417 Free PMC article. No abstract available.
X-chromosome inactivation in female patients with Fabry disease.
Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. Echevarria L, et al. Among authors: benistan k. Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22. Clin Genet. 2016. PMID: 25974833
36 results