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Items: 1 to 20 of 318

1.

Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: a 17-year retrospective review.

Frank M, Adham S, Zinzindohoué F, Jeunemaitre X.

J Gastroenterol Hepatol. 2018 Oct 24. doi: 10.1111/jgh.14522. [Epub ahead of print]

PMID:
30357907
2.

Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY).

Mirabel M, Damy T, Donal E, Huttin O, Labombarda F, Eicher JC, Cervino C, Laurito M, Offredo L, Tafflet M, Jouven X, Giura G, Desnos M, Jeunemaître X, Empana JP, Charron P, Habib G, Réant P, Hagège A; REMY working group of the French Society of Cardiology.

Int J Cardiol. 2018 Sep 28. pii: S0167-5273(18)31463-3. doi: 10.1016/j.ijcard.2018.09.083. [Epub ahead of print]

PMID:
30316646
3.

Fibromuscular Dysplasia and Its Neurologic Manifestations: A Systematic Review.

Touzé E, Southerland AM, Boulanger M, Labeyrie PE, Azizi M, Bouatia-Naji N, Debette S, Gornik HL, Hussain SM, Jeunemaitre X, Joux J, Kirton A, Le Hello C, Majersik JJ, Mocco J, Persu A, Sharma A, Worrall BB, Olin JW, Plouin PF.

JAMA Neurol. 2018 Oct 1. doi: 10.1001/jamaneurol.2018.2848. [Epub ahead of print]

PMID:
30285053
4.

Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models.

Goudot G, Papadacci C, Dizier B, Baudrie V, Ferreira I, Boisson-Vidal C, Tanter M, Jeunemaître X, Pernot M, Messas E, Mirault T.

Ultraschall Med. 2018 Sep 21. doi: 10.1055/a-0599-0841. [Epub ahead of print]

PMID:
30241104
5.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
6.

A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis.

López-Cayuqueo KI, Chavez-Canales M, Pillot A, Houillier P, Jayat M, Baraka-Vidot J, Trepiccione F, Baudrie V, Büsst C, Soukaseum C, Kumai Y, Jeunemaître X, Hadchouel J, Eladari D, Chambrey R.

Kidney Int. 2018 Sep;94(3):514-523. doi: 10.1016/j.kint.2018.05.001. Epub 2018 Jul 7.

PMID:
30146013
7.

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, Frank M.

Orphanet J Rare Dis. 2018 Jun 25;13(1):100. doi: 10.1186/s13023-018-0842-2.

8.

Liddle Syndrome: Review of the Literature and Description of a New Case.

Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P.

Int J Mol Sci. 2018 Mar 11;19(3). pii: E812. doi: 10.3390/ijms19030812. Review.

9.

Clinical utility gene card: for pseudoxanthoma elasticum.

Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J.

Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. No abstract available.

PMID:
29487417
10.

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC.

Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5.

PMID:
29403012
11.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.

Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.

PMID:
29398133
12.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
13.

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ.

Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505.

PMID:
29020406
14.

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium.

Front Physiol. 2017 Sep 25;8:730. doi: 10.3389/fphys.2017.00730. eCollection 2017.

15.

High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia).

Plouin PF, Baguet JP, Thony F, Ormezzano O, Azarine A, Silhol F, Oppenheim C, Bouhanick B, Boyer L, Persu A, Hammer F, Gosse P, Mounier-Vehier C, Le Hello C, Jeunemaitre X, Azizi M, Amar L, Chatellier G, Mousseaux E, Touzé E; ARCADIA Investigators.

Hypertension. 2017 Sep;70(3):652-658. doi: 10.1161/HYPERTENSIONAHA.117.09539. Epub 2017 Jul 17.

PMID:
28716989
16.

The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles.

Parkin JD, San Antonio JD, Persikov AV, Dagher H, Dalgleish R, Jensen ST, Jeunemaitre X, Savige J.

PLoS One. 2017 Jul 13;12(7):e0175582. doi: 10.1371/journal.pone.0175582. eCollection 2017.

17.

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium.

Front Physiol. 2017 Jun 13;8:400. doi: 10.3389/fphys.2017.00400. eCollection 2017. Erratum in: Front Physiol. 2017 Sep 25;8:730.

18.

Pseudohypoaldosteronism types I and II: little more than a name in common.

Casas-Alba D, Vila Cots J, Monfort Carretero L, Martorell Sampol L, Zennaro MC, Jeunemaitre X, Camacho Díaz JA.

J Pediatr Endocrinol Metab. 2017 May 1;30(5):597-601. doi: 10.1515/jpem-2016-0467.

PMID:
28593901
19.

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.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
20.

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.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review.

PMID:
28306228

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