Frank M - Search Results

1

Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Henneton P, Albuisson J, Adham S, Legrand A, Mazzella JM, Jeunemaitre X, Frank M. Henneton P, et al. Among authors: frank m. Circ Genom Precis Med. 2019 Feb 20. doi: 10.1161/CIRCGENETICS.117.001996. Online ahead of print. Circ Genom Precis Med. 2019. PMID: 30786240

2

Antinatriuretic effect of vasopressin in humans is amiloride sensitive, thus ENaC dependent.

Blanchard A, Frank M, Wuerzner G, Peyrard S, Bankir L, Jeunemaitre X, Azizi M. Blanchard A, et al. Among authors: frank m. Clin J Am Soc Nephrol. 2011 Apr;6(4):753-9. doi: 10.2215/CJN.06540810. Epub 2011 Jan 13. Clin J Am Soc Nephrol. 2011. PMID: 21233458 Free PMC article.

3

Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Ferré FC, Frank M, Gogly B, Golmard L, Naveau A, Chérifi H, Emmerich J, Gaultier F, Berdal A, Jeunemaitre X, Fournier BP. Ferré FC, et al. Among authors: frank m. BMJ Open. 2012 Apr 5;2(2):e000705. doi: 10.1136/bmjopen-2011-000705. Print 2012. BMJ Open. 2012. PMID: 22492385 Free PMC article.

4

Angiotensin II promotes thoracic aortic dissections and ruptures in Col3a1 haploinsufficient mice.

Faugeroux J, Nematalla H, Li W, Clement M, Robidel E, Frank M, Curis E, Ait-Oufella H, Caligiuri G, Nicoletti A, Hagege A, Messas E, Bruneval P, Jeunemaitre X, Bergaya S. Faugeroux J, et al. Among authors: frank m. Hypertension. 2013 Jul;62(1):203-8. doi: 10.1161/HYPERTENSIONAHA.111.00974. Epub 2013 Apr 29. Hypertension. 2013. PMID: 23630948

5

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.

6

Carotid stiffness change over the cardiac cycle by ultrafast ultrasound imaging in healthy volunteers and vascular Ehlers-Danlos syndrome.

Mirault T, Pernot M, Frank M, Couade M, Niarra R, Azizi M, Emmerich J, Jeunemaître X, Fink M, Tanter M, Messas E. Mirault T, et al. Among authors: frank m. J Hypertens. 2015 Sep;33(9):1890-6; discussion 1896. doi: 10.1097/HJH.0000000000000617. J Hypertens. 2015. PMID: 26248323

7

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Mazzella JM, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J. Mazzella JM, et al. Among authors: frank m. Clin Genet. 2017 Mar;91(3):458-462. doi: 10.1111/cge.12838. Epub 2016 Sep 13. Clin Genet. 2017. PMID: 27440102

8

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Among authors: frank m. Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19. Genet Med. 2017. PMID: 28102862 Free article.

9

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Byers PH, et al. Among authors: frank m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306228 Review.

10

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: frank m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229

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