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Items: 1 to 20 of 81

1.

Significant contribution of intragenic deletions to ARID1B mutation spectrum.

Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C.

Genet Med. 2019 May 20. doi: 10.1038/s41436-019-0546-6. [Epub ahead of print] No abstract available.

PMID:
31105273
2.

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Dharmaraj T, Guan Y, Liu J, Badens C, Gaborit B, Wilson KL.

Front Cell Dev Biol. 2019 Apr 5;7:48. doi: 10.3389/fcell.2019.00048. eCollection 2019.

3.

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos-channelopathy: A retrospective series of 126 patients.

Picard V, Guitton C, Thuret I, Rose C, Bendelac L, Ghazal K, Aguilar-Martinez P, Badens C, Barro C, Bénéteau C, Berger C, Cathébras P, Deconinck E, Delaunay J, Durand JM, Firah N, Galactéros F, Godeau B, Jaïs X, de Jaureguiberry JP, Le Stradic C, Lifermann F, Maffre R, Morin G, Perrin J, Proulle V, Ruivard M, Toutain F, Lahary A, Garçon L.

Haematologica. 2019 Jan 17. pii: haematol.2018.205328. doi: 10.3324/haematol.2018.205328. [Epub ahead of print]

4.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.

Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases.

Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18.

PMID:
30334577
5.

Performance of Semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidies: results from a multicenter prospective cohort study in a clinical setting.

Allach El Khattabi L, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium.

Ultrasound Obstet Gynecol. 2018 Sep 6. doi: 10.1002/uog.20112. [Epub ahead of print]

PMID:
30191619
6.

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.

Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay E, Lemale J, Martinez-Vinson C, Peretti N, Perry A, Bourgeois P, Badens C, Goulet O, Hugot JP, Farnarier C, Fabre A.

Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018.

7.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.

Masliah-Planchon J, Lévy D, Héron D, Giuliano F, Badens C, Fréneaux P, Galmiche L, Guinebretierre JM, Cellier C, Waterfall JJ, Aït-Raïs K, Pierron G, Glorion C, Desguerre I, Soler C, Deville A, Delattre O, Michon J, Bourdeaut F.

Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30.

PMID:
29706636
8.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
9.

Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience.

Rahal I, Galambrun C, Bertrand Y, Garnier N, Paillard C, Frange P, Pondarré C, Dalle JH, de Latour RP, Michallet M, Steschenko D, Moshous D, Lutz P, Stephan JL, Rohrlich PS, Yakoub-Agha I, Bernaudin F, Piguet C, Aladjidi N, Badens C, Berger C, Socié G, Dumesnil C, Castex MP, Poirée M, Lambilliotte A, Thomas C, Simon P, Auquier P, Michel G, Loundou A, Agouti I, Thuret I.

Haematologica. 2018 Jul;103(7):1143-1149. doi: 10.3324/haematol.2017.183467. Epub 2018 Mar 29.

10.

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical consortium, Fabre A, Badens C.

Hum Mutat. 2018 Jun;39(6):774-789. doi: 10.1002/humu.23418. Epub 2018 Mar 25.

PMID:
29527791
11.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A.

Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8.

12.

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.

Fabre A, Petit LM, Hansen LF, Wewer AV, Esteve C, Chaix C, Bourgeois P, Badens C, Paerregaard A.

Am J Med Genet A. 2018 Mar;176(3):727-732. doi: 10.1002/ajmg.a.38618. Epub 2018 Jan 31.

PMID:
29383842
13.

Trichohepatoenteric Syndrome.

Fabre A, Bourgeois P, Chaix C, Bertaux K, Goulet O, Badens C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Jan 11.

14.

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

Neves JF, Afonso I, Borrego L, Martins C, Cordeiro AI, Neves C, Lacoste C, Badens C, Fabre A.

Eur J Med Genet. 2018 Apr;61(4):185-188. doi: 10.1016/j.ejmg.2017.11.014. Epub 2017 Nov 23.

PMID:
29174094
15.

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Fabre A, Bourgeois P, Coste ME, Roman C, Barlogis V, Badens C.

Intractable Rare Dis Res. 2017 Aug;6(3):152-157. doi: 10.5582/irdr.2017.01040. Review.

16.

High Aspect Ratio Sub-Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits.

Gambhire P, Atwell S, Iss C, Bedu F, Ozerov I, Badens C, Helfer E, Viallat A, Charrier A.

Small. 2017 Aug;13(32). doi: 10.1002/smll.201700967. Epub 2017 Jun 26.

PMID:
28649736
17.

Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.

Rapetti-Mauss R, Picard V, Guitton C, Ghazal K, Proulle V, Badens C, Soriani O, Garçon L, Guizouarn H.

Haematologica. 2017 Oct;102(10):e415-e418. doi: 10.3324/haematol.2017.171389. Epub 2017 Jun 15. No abstract available.

18.

Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature.

Orvain C, Joly P, Pissard S, Badiou S, Badens C, Bonello-Palot N, Couque N, Gulbis B, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2017 Feb 1;75(1):39-51. doi: 10.1684/abc.2016.1204. Review.

PMID:
28057606
19.

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.

Busoni VB, Lemale J, Dubern B, Frangi F, Bourgeois P, Orsi M, Badens C, Fabre A.

J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):37-41. doi: 10.1097/MPG.0000000000001218.

PMID:
28027214
20.

Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel.

Rapetti-Mauss R, Soriani O, Vinti H, Badens C, Guizouarn H.

Haematologica. 2016 Nov;101(11):e431-e435. Epub 2016 Jul 21. No abstract available.

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