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Items: 1 to 50 of 112

1.

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.

El Khattabi LA, 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, Cormier A, Duboc V, Pipoli JDF, Bonnet C, Lagarde A, Letourneur F, Jonveaux P, Bardel C, Paquis-Fluckinger V, Bannwarth S, Arveiler B, Badens C, Levy N, Goossens M, Vidaud M, Massardier J, Boureau-Wirth A, Saliou AH, Lacombe D, Sanlaville D, Ferec C.

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

PMID:
30191619
2.

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.

3.

Primary red cell hydration disorders: Pathogenesis and diagnosis.

Caulier A, Rapetti-Mauss R, Guizouarn H, Picard V, Garçon L, Badens C.

Int J Lab Hematol. 2018 May;40 Suppl 1:68-73. doi: 10.1111/ijlh.12820.

PMID:
29741259
4.

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
5.

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
6.

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.

7.

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
8.

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.

9.

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
10.

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; 1993-2018.
2018 Jan 11.

11.

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
12.

[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].

Szepetowski S, Lacoste C, Mallet S, Roquelaure B, Badens C, Fabre A.

Arch Pediatr. 2017 Dec;24(12):1228-1234. doi: 10.1016/j.arcped.2017.09.016. Epub 2017 Nov 13. French.

PMID:
29146216
13.

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.

14.

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
15.

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.

16.

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G.

Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9. No abstract available.

PMID:
28489313
17.

[Next-generation DNA sequencing in clinical diagnostics].

Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-Palot N, Badens C, Bourgeois P.

Arch Pediatr. 2017 Apr;24(4):373-383. doi: 10.1016/j.arcped.2017.01.008. Epub 2017 Feb 24. Review. French.

PMID:
28242148
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.

21.

Advances in understanding the pathogenesis of the red cell volume disorders.

Badens C, Guizouarn H.

Br J Haematol. 2016 Sep;174(5):674-85. doi: 10.1111/bjh.14197. Epub 2016 Jun 29. Review.

PMID:
27353637
22.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

23.

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.

Galant D, Gaborit B, Desgrouas C, Abdesselam I, Bernard M, Levy N, Merono F, Coirault C, Roll P, Lagarde A, Bonello-Palot N, Bourgeois P, Dutour A, Badens C.

Cells. 2016 Apr 25;5(2). pii: E21. doi: 10.3390/cells5020021.

24.

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M.

J Genet. 2016 Mar;95(1):203-8. No abstract available.

25.

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Milh M, Cacciagli P, Ravix C, Badens C, Lépine A, Villeneuve N, Villard L.

Rev Neurol (Paris). 2016 Mar;172(3):171-3. doi: 10.1016/j.neurol.2016.02.005. Epub 2016 Mar 15. Review.

PMID:
26993565
26.

The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes.

Jiang Z, Luo HY, Huang S, Farrell JJ, Davis L, Théberge R, Benson KA, Riolueang S, Viprakasit V, Al-Allawi NA, Ünal S, Gümrük F, Akar N, Başak AN, Osorio L, Badens C, Pissard S, Joly P, Campbell AD, Gallagher PG, Steinberg MH, Forget BG, Chui DH.

Br J Haematol. 2016 Mar;172(6):958-65. doi: 10.1111/bjh.13909. Epub 2016 Jan 13.

27.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.

Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.

28.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
29.

Comparative evaluation of the depletion-red cell exchange program with the Spectra Optia and the isovolemic hemodilution-red cell exchange method with the COBE Spectra in sickle cell disease patients.

Poullin P, Sanderson F, Bernit E, Brun M, Berdah Y, Badens C.

J Clin Apher. 2016 Oct;31(5):429-33. doi: 10.1002/jca.21422. Epub 2015 Aug 14.

PMID:
26274351
30.

Platelet and not erythrocyte microparticles are procoagulant in transfused thalassaemia major patients.

Agouti I, Cointe S, Robert S, Judicone C, Loundou A, Driss F, Brisson A, Steschenko D, Rose C, Pondarré C, Bernit E, Badens C, Dignat-George F, Lacroix R, Thuret I.

Br J Haematol. 2015 Nov;171(4):615-24. doi: 10.1111/bjh.13609. Epub 2015 Jul 24.

PMID:
26205481
31.

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Béroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C.

Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6.

32.

Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis.

Herbaux C, Duployez N, Badens C, Poret N, Gardin C, Decamp M, Eclache V, Daliphard S, Murati A, Cony-Makhoul P, Cheze S, Beve B, Lacoste C, Prebet T, Hunault-Berger M, Maloisel F, Renneville A, Figeac M, Stamatoullas-Bastard A, Bastard C, Fenaux P, Preudhomme C, Rose C; GFM (Groupe Francophone des Myelodysplasies).

Am J Hematol. 2015 Aug;90(8):737-8. doi: 10.1002/ajh.24073.

33.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, De La Vaissière S, Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L.

Neurobiol Dis. 2015 Aug;80:80-92. doi: 10.1016/j.nbd.2015.04.017. Epub 2015 May 22.

PMID:
26007637
34.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L.

Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10.

PMID:
25959266
35.

[Information for parents of children with sickle cell trait detected by neonatal screening: A 10-year experience].

Joly P, Badens C, Fekih S, Philippe N, Merono F, Thuret I, Pondarré C.

Arch Pediatr. 2015 May;22(5):562-3. doi: 10.1016/j.arcped.2015.02.020. Epub 2015 Apr 1. French. No abstract available.

PMID:
25842198
36.

Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.

Muszlak M, Pissard S, Badens C, Chamouine A, Maillard O, Thuret I.

Hemoglobin. 2015;39(3):156-61. doi: 10.3109/03630269.2015.1023897. Epub 2015 Mar 25.

PMID:
25806420
37.

[Beta-thalassemias: molecular, epidemiological, diagnostical and clinical aspects].

Joly P, Pondarre C, Badens C.

Ann Biol Clin (Paris). 2014 Nov-Dec;72(6):639-68. doi: 10.1684/abc.2014.1015. Review. French.

38.

A genetic score for the prediction of beta-thalassemia severity.

Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, Manca M, Sollaino MC, Manunza L, Mereu E, Marceddu G, Pissard S, Joly P, Thuret I, Origa R, Borg J, Forni GL, Piga A, Lai ME, Badens C, Moi P, Galanello R.

Haematologica. 2015 Apr;100(4):452-7. doi: 10.3324/haematol.2014.113886. Epub 2014 Dec 5.

39.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Fabre A, Badens C.

Intractable Rare Dis Res. 2014 Feb;3(1):8-11. doi: 10.5582/irdr.3.8. Review.

40.

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment.

Bonello-Palot N, Simoncini S, Robert S, Bourgeois P, Sabatier F, Levy N, Dignat-George F, Badens C.

Atherosclerosis. 2014 Nov;237(1):45-52. doi: 10.1016/j.atherosclerosis.2014.08.036. Epub 2014 Aug 28.

PMID:
25200614
41.

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Eckard SC, Rice GI, Fabre A, Badens C, Gray EE, Hartley JL, Crow YJ, Stetson DB.

Nat Immunol. 2014 Sep;15(9):839-45. doi: 10.1038/ni.2948. Epub 2014 Jul 27.

42.

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L.

Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9.

PMID:
24817631
43.

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

Lacoste C, Leheup B, Agouti I, Mowat D, Giuliano F, Badens C.

Clin Genet. 2014 Nov;86(5):502-3. doi: 10.1111/cge.12319. Epub 2013 Dec 1. No abstract available.

PMID:
24289169
44.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A.

Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30.

45.

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C.

Arch Dis Child. 2014 Jan;99(1):35-8. doi: 10.1136/archdischild-2013-304016. Epub 2013 Oct 9.

PMID:
24108068
46.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L.

Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.

47.

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L.

Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.

48.

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A, Martinez-Vinson C, Goulet O, Badens C.

Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Review.

49.

A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.

Herbaux C, Badens C, Guidez S, Lacoste C, Maboudou P, Rose C.

Hemoglobin. 2012;36(6):581-5. doi: 10.3109/03630269.2012.724040. Epub 2012 Oct 24.

PMID:
23092150
50.

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Joly P, Schluth-Bolard C, Lacan P, Barro C, Pissard S, Labalme A, Sanlaville D, Badens C.

Haematologica. 2013 Jan;98(1):e7-8. doi: 10.3324/haematol.2012.071167. Epub 2012 Oct 12. No abstract available.

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