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RESEARCH AREAS

Bone Tissue Engineering

Vascular Tissue Engineering

BioFabrication

Bioingénierie Tissulaire (BioTis)

Inserm U1026

Université Bordeaux

146, rue Léo-Saignat

33076 BORDEAUX cedex - France

Tél. : 33 (0)5 57 57 14 88

Fax : 33 (0)5 56 90 05 17


In vitro and in vivo evaluation of the inflammatory potential of various nanoporous hydroxyapatite biomaterials. VELARD F, SCHLAUBITZ S, FRICAIN JC, GUILLAUME D, LAURENT-MAQUIN D, MÖLLER-SIEGERT J, VIDAL L, JALLOT E, SAYEN S, RAISSLE O, NEDELEC JM, VIX-GUTERL C, ANSELME K, AMEDEE J, LAQUERRIÈRE P. Nanomedicine. 2015, 10(5) : 785-802.


New frontiers for platelet CD154. DEWITTE A, TANGA A, VILLENEUVE J, LEPREUX S, OUATTARA A, DESMOULIERE A, COMBE C, RIPOCHE J. Exp Hematol Oncol. 2015 Mar 1;4:6 ;


The Use of Total Human Bone Marrow Fraction in a Direct Three-Dimensional Expansion Approach for Bone Tissue Engineering Applications: Focus on Angiogenesis and Osteogenesis. GUERRERO J, OLIVEIRA H, CATROS S, SIADOUS R, DERKAOUI S-M, BAREILLE R, LETOURNEUR D, AMÉDÉE J. Tissue Engineering Part A. 2015, 21(5-6): 861-874.


Comparative study of membranes induced by PMMA or silicone in rats, and influence of external radiotherapy. DE MONES E, SCHLAUBITZ S, OLIVEIRA H, D'ELBEE JM, BAREILLE R, BOURGET C, COURAUD L, FRICAIN JC. Acta biomaterialia, 2015, 19: 119-27.


Parameters of Influence in Surface Ablation and Texturing of Metals Using High-power Ultrafast Laser. LOPEZ J, FAUCON M, DEVILLARD R, ZAOUTER Y, HONNINGER C, MOTTAY E, KLING R. Journal of Laser Micro Nanoengineering, 2015, 10(1): 1-10.


Ablation efficiency of high average power ultrafast laser. LOPEZ J, MINCUZZI G, DEVILLARD R, ZAOUTER Y, HONNINGER C, MOTTAY E, KLING R. Journal of Laser Applications. 2015,27  Special Issue: SI   Supplement: 2 Article Number: S28008.


Control of Stem-Cell Behavior by Fine Tuning the Supramolecular Assemblies of Low-Molecular-Weight Gelators. LATXAGUE L, RAMIN MA, APPAVOO A, BERTO P, MAISANI M, EHRET C, CHASSANDE O, BARTHELEMY P. Angew Chem Int Ed Engl. 2015, 54(15):4517-21.


Proximal ulnar fractures in adults: a review of 163 cases. NIETO H, BILLAUD A, ROCHET S, LAVOINNE, N, LOUBIGNAC F, PIETU G, BAROAN C, ESPIE A, BONNEVIALLE P, FABRE T. Injury-International Journal Of The Care Of The Injured. 2015, 46 Supplement: 1   Pages: S18-S23

Labeling and qualification of endothelial progenitor cells for tracking in tissue engineering: An in vitro study. THEBAUD NB, AUSSEL A, SIADOUS R, TOUTAIN J, BAREILLE R, MONTEMBAULT A, DAVID L, BORDENAVE L. Int J Artif Organs. 2015, 38(4): 224-232.


Statins and alveolar bone resorption: a narrative review of preclinical and clinical studies. DE MONES E, SCHLAUBITZ S, CATROS S, FRICAIN J-C. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015, 119(1):65-73


Potential of Newborn and adult stem cells for the production of vascular constructs using the self-assembly approach. BOURGET J-M, GAUVIN R, DUCHESNEAU D, REMY M, AUGER F, GERMAIN L. BioMed Research International, 2015, 168294.


Newly identified interfibrillar collagen crosslinking suppresses cell proliferation and remodelling. MARELLI B, LE NIHOUANNEN D, HACKING SA, TRAN S, LI JJ, MURSHED M, DOILLON CJ, GHEZZI CE, ZHANG YL, NAZHAT SN, BARRALET JE. Biomaterials. 2015, 54: 126-135.

Colorectal tissue engineering a comparative study between porcine Small Intestinal Submucosa (SIS) and chitosan hydrogel patches. DENOST Q, ADAM J.P, PONTALLIER A, MONTEMBAULT A, BAREILLE R, SIADOUS R, DELMOND S, RULLIER E, DAVID L, BORDENAVE L. Surgery, 2015, 158(6):1714-23;


Comparison of the antimicrobial properties of silver impregnated vascular grafts. BERARD X, STECKEN L, PINAQUY J.B, CAZANAVE C, PUGES M, PEREYRE-WASSNER S, BORDENAVE L, M'ZALI F. Eur. J. Vascular Endovasc Surg., 2016, 51(2):285-92.


Effect of dosimeter's position on occupational radiation extremity dose received by nuclear medicine technologists during 18 F-FDG preparation for PET-CT. SALESSES F, PEREZ P, MAILLARD J, BLANCHARD J, MALLARD S, BORDENAVE L. J Nucl Med, soumis

A useful and easy to develop combined stress test for myocardial perfusion imaging: regadenoson and isometric exercice, preliminary results. JANVIER L, PINAQUY J.B, DOUARD H, KARCHER G, BORDENAVE L. J. Nucl. Cardiol, en révision mineure

Comparative study of membranes induced by PMMA or silicone in rats, and influence of external radiotherapy. DE MONÈS E, SCHLAUBITZ S, D'ELBÉE JM, BAREILLE R, COURAUD L, BOURGET C, DURAND M, FRICAIN JC. Acta Biomater, 2015, 19:119-27;

Major post-operative complications predict long-term survival after esophagectomy in patients with adenocarcinoma of the esophagus. LUC G, DURAND M, CHICHE L, COLLET D. World J Surg 2015, 39(1):216-22.

Voyage au cœur des artères. BLANCHEMAIN N., SOBOCINSKI J., BORDENAVE L. Biofutur 368, 2015 42-43.

8-FDG PET/CT is useful in the early evaluation of refractory/relapsed Hodgkin lymphoma treated with Brentuximab-Vedotin. MESGUICH C., BOUABDALLAH K., MILPEID N., BORDENAVE L., HINDIE E. J Nucl Med May 1, 2015 vol. 56 no. suppt 3 598.

Hodgkin's lymphoma: interim FDG-PET result with a score ≤ 2 on the 5-point scale may obviate the need for end-of-treatment FDG-PET evaluation. MESGUICH C., CAZEAU A-L., BOUABDALLAH K., SOUBEYRAN P., GUYOT M., MILPIED N., BORDENAVE L., HINDIE E. J Nucl Med May 1, 2015 vol. 56 no. suppt 3 595.

In vitro assessment of a collagen/alginate composite scaffold for regenerative endodontics. DEVILLARD R, RÉMY M, KALISKY J, BOURGET JM, KÉROURÉDAN O, SIADOUS R, BAREILLE R, AMÉDÉE-VILAMITJANA J, CHASSANDE O, FRICAIN JC. Int Endod J. 2015 Dec 9. doi: 10.1111/iej.12591.

Clinical translation of tissue-engineered constructs for severe leg injuries. L'HEUREUX N, LETOURNEUR D. Ann Transl Med. 2015, 3(10):134

Kinetic eGFR and Novel AKI Biomarkers to Predict Renal Recovery. DEWITTE A, JOANNÈS-BOYAU O, SIDOBRE C, FLEUREAU C, BATS ML, DERACHE P, LEUILLET S, RIPOCHE J, COMBE C, OUATTARA A. Clin J Am Soc Nephrol. 2015, 10(11):1900-10.

Tc-99m-DTPA-bis-c(RGDfK) a potential alpha(v) beta3 integrin based homobivalent radioligand for imaging neoangiogenesis in malignant glioma and melanoma. DEBORDEAUX F, SCHULZ J, SAVONA-BARON C, HAZARI, PP, LERVAT C, MISHRA AK, RIES C, BARTHE N, VERGIER B, FERNANDEZ P. Rsc Advances 2015 5 Issue: 74  Pages: 60161-60171.

Maturation of decellularized esophagus previously seeded or not with sheet of human adipose derived stem cells in epiploon of nude rats for organ substitution. LUC G, KALISKY J, ROQUES S, BAREILLE R, COURAUD, L, MIRAUX, S, BORDENAVE L, DURAND M, Tissue Engineering Part A 2015, 21; S113-S113  Supplement: 1

Hemodynamic conditions may influence the oversizing of stent grafts and the postoperative surveillance of patients with ruptured abdominal aortic aneurysm treated by EVAR. GONTHIER C, DEGLISE S, BRIZZI V, DUCASSE E, MIDY D, LACHAT M, BERARD X. Ann Vasc Surg. 2016, 30:308.e5-308.e10.

Comparison of conventional transcrestal sinus lift and ultrasound-enhanced transcrestal hyadrodynamic cavitational sinuslift to fill the sub-antral space: Human cadaver study. CATROS S, BOU C, DA COSTA R, FRICAIN J.C, ELLA B. J Oral Implantol. 2015, 41(6): 657-661

Evaluation of a polyethylene glycol-osteogenic protein-1 system on alveolar bone regeneration in the mini-pig. CATROS S, MOLENBERG A, FREILICH M, DARD M. J Oral Implantol. 2015, 41(4):e96-e101.

Monitoring biological effects of 20 nm versus 100 nm silica nanoparticles induced on a human renal cell line using Fourier transform infrared spectroscopy. BARRON E, PASSAGNE I, AUGER A, TRAVO A, RASCOL E, L'AZOU B, FORFAR I. Anal. Methods 2016, 8; 2233-2242.

Physiological uptake of the uncinate process of the pancreas: incidence of this potential pitfall in a retrospective study fo 220 patients. PINAQUY J, SCHWARTZ P, BORDENAVE L. European Journal of Nuclear Medicine and Molecular Imaging,  2015,42  Pages: S809-S809  Supplement: 1

Chitosan based Hydrogels for Vascular Tissue Engineering Applications. AUSSEL A.; BERARD X.; THEBAUD N et al.Tissue Engineering Part A 2015, 21 Supplement: 1; S228-S229.

Evidence for the use of drug eluting stents in below-the-knee lesions. TROMBERT D,  CARADU C, BRIZZI V, BERARD X, MIDY D, DUCASSE E. J Cardiovasc Surg (Torino). 2015, 56(1): 67-71.

A rare coronal fracture of the medial carpal column: Case report. DUNET B, VARGAS M, PALLARO J, TOURNIER C, FABRE T. Chirurgie de la main. 2015, 34(2): 94-7.

Acetabular component navigation in lateral decubitus based on EOS imaging: A preliminary study of 13 cases. BILLAUD A, VERDIER N, DE BARTOLO R, LAVOINNE N, CHAUVEAUX D, FABRE T. Orthopaedics & traumatology, surgery & research : OTSR. 2015, 101(3): 271-5.

The TASERed finger: A new entity. Case report and review of literature. DUNET B, ERBLAND A, ABI-CHAHLA ML, Tournier C, FABRE T. Chir Main. 2015,34(3) :145-8.

Evidence-based choice of dialysis technique in diabetics with end-stage kidney disease: half a loaf is better than no bread. COMBE C, RIGOTHIER C, CHAUVEAU P. Nephrology Dialysis Transplantation. 2015, 30(2) 160-162

Cytotoxic effects and cellular oxidative mechanisms of metallic nanoparticles on renal tubular cells: impact of particle solubility. PUJALTE I, PASSAGNE I, DACULSI R, DE PORTAL C, OHAYON-COURTES C, L'AZOU B. Toxicology Research 2015, 4(2): 409-422

Nasal irrigation: From empiricism to evidence-based medicine. A review. BASTIER P.L, LECHOT A, BORDENAVE L, DE GABORY L, Eur. Ann. Otorhinolaryngol 2015, 132(5) : 281-5.

Intravenous immunoglobulins and rituximab therapy for severe transplant glomerulopathy in chronic antibody-mediated rejection: a pilot study. BACHELET T, NODIMAR C, TAUPIN JL, LEPREUX S, MOREAU K, MOREL D, GUIDICELLI G, COUZI L, MERVILLE P. Clin Transplant. 2015, 29(5):439-46.

Detection of C3d-binding donor-specific anti-HLA antibodies at diagnosis of humoral rejection predicts renal graft loss. SICARD A, DUCREUX S, RABEYRIN M, COUZI L, MCGREGOR B, BADET L, SCOAZEC JY, BACHELET T, LEPREUX S, VISENTIN J, MERVILLE P, FREMEAUX-BACCHI V, MORELON E, TAUPIN JL, DUBOIS V, THAUNAT O. J Am Soc Nephrol. 2015, 26(2):457-67.

Cell-based flow cytometry crossmatch test discriminates effectively between pathogenic and non-pathogenic preformed dsa. BACHELET T, COUZI L, MARTINEZ C, VISENTIN J, GUIDICELLI G, LEPREUX S, TAUPIN L, MERVILLE P. Transplant International. 2015, 28(1): 1-1  Supplement: 1

Risk-based individualisation of target haemoglobin in haemodialysis patients with renal anaemia in the post-TREAT era: theoretical attitudes versus actual practice patterns (MONITOR-CKD5 study). GESUALDO L, COMBE C, COVIC A, DELLANNA F, GOLDSMITH D, LONDON G, MANN JF, ZAOUI P, TURNER M, MUENZBERG M, MACDONALD K, ABRAHAM I. Int Urol Nephrol. 2015, 47(5):837-45.

Glycemic control according to glomerular filtration rate in patients with type 2 diabetes and overt nephropathy: A prospective observational study. JOLY D, CHOUKROUN G, COMBE C, DUSSOL B, FAUVEL JP, HALIMI JM, QUÉRÉ S, FIQUET B. Diabetes Res Clin Pract. 2015, 108(1):120-7.

Incidence of erythropoietin antibody-mediated pure red cell aplasia: the Prospective Immunogenicity Surveillance Registry (PRIMS). MACDOUGALL IC, CASADEVALL N, LOCATELLI F, COMBE C, LONDON GM, DI PAOLO S, KRIBBEN A, FLISER D, MESSNER H, MCNEIL J, STEVENS P, SANTORO A, DE FRANCISCO AL, PERCHESON P, POTAMIANOU A, FOUCHER A, FIFE D, MÉRIT V, VERCAMMEN E; PRIMS STUDY GROUP. Nephrol Dial Transplant. 2015, 30(3):451-60.

Study of the concordance between p16 immunohistochemistry and HPV-PCR genotyping for the viral diagnosis of oropharyngeal squamous cell carcinoma. FONMARTY D, CHERRIÈRE S, MAJOUFRE-LEFEBVRE C, FLEURY H, EIMER S, ASTETBON V, DE MONÈS E. Eur Ann Otorhinolaryngol Head Neck Dis. 2015, 132(3): 135-9.

Dementia pugilistica: a severe tribute to a career. LEPREUX S, AURIACOMBE S, VITAL C, DUBOIS B, VITAL A. Clin Neuropathol. 2015, 34(4):193-8.

Altered e-cadherin levels and distribution in melanocytes precede clinical manifestations of vitiligo. WAGNER RY, LUCIANI F, CARIO-ANDRÉ M, RUBOD A, PETIT V, BENZEKRI L, EZZEDINE K, LEPREUX S, STEINGRIMSSON E, TAIEB A, GAUTHIER Y, LARUE L, DELMAS V. J Invest Dermatol. 2015, 135(7): 1810-1819.

Use of the Flixene vascular access graft as an early cannulation solution. BERARD X, OTTAVIANI N, BRIZZI V, DEGLISE S, DE PRECIGOUT V, DUCASSE E, COMBE C, MIDY D. J Vasc Surg. 2015, 62(1): 128-34.

Thirty-day Outcome of Delayed Versus Early Management of Symptomatic Carotid Stenosis. CHARMOILLE E, BRIZZI V, LEPIDI S, SASSOUST G, ROULLET S, DUCASSE E, MIDY D, BÉRARD X. Ann Vasc Surg. 2015, 29(5): 977-84.

18F-FDG PET-CT in suspected prosthetic vascular graft infection. PINAQUY J-B, CAZANAVE C, STECKEN L, BORDENAVE L, TLILI G, BERARD X. Ann Vasc Surg. 2015, 29(2): 361.e13-5.

High performances of 18F-fluorodeoxyglucose PET-CT in cardiac implantable device infections: A study of 40 patients. TLILI G, AMROUI S, MESGUICH C, RIVIÈRE A, BORDACHAR P, HINDIÉ E, BORDENAVE L. J Nucl Cardiol. 2015, 22(4):787-98.

Non-complement-binding de novo donor specific anti-hla antibodies and kidney allograft survival  GUIDICELLI G, GUERVILLE F, LEPREUX S, WIEBE C, THAUNAT O, DUBOIS V, VISENTIN J, BACHELET T, MORELON E, NICKERSON P, MERVILLE P, TAUPIN JL, COUZI L. J Am Soc Nephrol. 2015, 27(2): 615-625.

Five-year prognostic value of the egfr and its slope of evolution during the first year post-transplantation in kidney allograft recipients  TATON B, MOREAU K, LEFFONDRE K, COMBE C, MERVILLE P, COUZI L, Transplant International. 2015, 28(1): 10-10   Meeting Abstract: 41 Published: JAN 2015

Variability of Hepatic 18F-FDG Uptake at Interim PET in Patients With Hodgkin Lymphoma. RUBELLO D, GORDIEN P, MORLIERE C, GUYOT M, BORDENAVE L, COLETTI PM, HINDIE E, Clin Nucl Med., 2015, 40(8):E405-E410.

Should White Blood Cell Scan be Replaced by (18) F-FDG PET-CT in the Diagnosis of Prosthetic Vascular Graft Infection? PINAQUY JB, BERARD X, STECKEN L, TLILI G, M'ZALI F, BORDENAVE L, PEREYRE S, MAYEUX S, CAZANAVE C, Ann Vasc Surg., 2015, 29(6):1321.e1-4.

Nasal irrigation: From empiricism to evidence-based medicine. A review. BASTIER PL, LECHOT A, BORDENAVE L, DURAND M, de GABORY L, Eur Ann Otorhinolaryngol Head Neck Dis., 2015, 132(5):281-5.

Oral hairy leukoplakia induced by topical steroids. VIGARIOS E, FRICAIN JC, PROJETTI F, BOULANGER M, SIBAUD V., Ann Dermatol Venereol., 2015, 142(10):572-6.

Hypoxia imaging with [18F]-FMISO-PET for guided dose escalation with intensity-modulated radiotherapy in head-and-neck cancers. DE FIGUEIREDO H, ZACHARATOU B, GALLAND-GIRODET C, BENECH S, DE CLERMONT H, GALLERANDE J, LAMARE H, HATT F, DIGUE M, DE MONES DEL PUJOL E, FERNANDEZ P, Strahlenther Onkol., Organ der Deutschen Rontgengesellschaft et al, :191, 2015, (3):217-24

Distal Angiopathy and Atypical Hemolytic Uremic Syndrome: Clinical and Functional Properties of an Anti-Factor H IgA lambda Antibody. RIGOTHIER C, DELMAS Y, ROUMENINA LT, CONTIN-BORDES C, LEPREUX S, BRIDOUX F, GOUJON JM, BACHELET T, TOUCHARD G, FREMEAUX-BACCHI V,...MORE, View Research erID and ORCID, Am J Kidney Dis., 2015,  66 (2): 331-336.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1, MANSOUR-HENDILI L, BLANCHARD A, LE POTTIER N, RIGOTHIER C AND AL, View ResearcherID and ORCID HUMAN MUTATION, 2015, 36 (8): 743-752;

Sciatic nerve intraneural perineurioma, Article in French, BONHOMME B, POUSSANGE N, LE COLLEN P, FABRE T, VITAL A, LEPREUX S, Ann Pathol., 2015, 35(6):502-5.

Evaluation of a PEG-OP1 system on alveolar bone regeneration in the mini-pig. CATROS S, MOLENBERG A, FREILICH M, DARD M. J Oral Implantol. August 2015, Vol. 41, No. 4, pp. e96-e101

A novel role for hepatic stellate cells in pathogenesis of visceral leishmaniasis. SHOUKRY NH, FABRE T, GANDHI CR.Hepatology, 2016, 63(2):375-6.

Arthroscopic resection of benign tumors of the knee posterior compartment: a report of 15 cases. MASQUEFA T, DUNET B, VERDIER N, PALLARO J, FABRE T, TOURNIER C, Orthop Traumatol Surg Res., 2015, 101(5):543-6.

Reconstruction of femoral bone loss with a monoplane external fixator and bone transport. PALLARO J, ANGELLIAUME A, DUNET B, LAVOINNE N, TOURNIER C, FABRE T, Orthop Traumatol Surg Res., 2015, 101(5):583-7.

Lumbo-pelvic related indexes: impact on adult spinal deformity surgery, BOISSIERE L,VITAL JM, AUNOBLE S,FABRE T, GILLE O, OBEID I, Eur Spine J.,2015, 24 (6): 1212-1218

Oral squamous cell carcinoma and hyperkeratotic lesions with BRAF inhibitors.VIGARIOS E, LAMANT L, DELORD JP, FRICAIN JC, CHEVREAU C, BARRÉS B, GOMEZ-ROCA C, BOULANGER M, SIBAUD V., Br J Dermatol., 2015, 172(6):1680-2.

Is systematic colonoscopy of incidental colonic uptakes detected by 18F-FDG PET/CT safe and always indicated?  GORDIEN P, POULLENOT F, SUBTIL C, ET AL. Conference: Annual Meeting of the Society of Nuclear Medicine and Molecular Imaging Location: Baltimore, MD, 2015, Sponsor(s): Soc Nucl Med & Mol Imaging, J Nucl Med., 2015, 56 (3) Supplement: 3, Meeting Abstract: 1343.

Complications bactériennes chez les hémodialysés chroniques de Befelatanana à Madagascar. RANIVOHARISOA EM, RAMILITIANA B, RATRIMOHARILALA F, RASOLOFO H, RANDRIA M, RANDRIAMAROTIA W, COMBE C, RAKOTOARIVELO R, Nephrol Ther., 2015, 11: 287.

Change in acetabular version after lumbar pedicle subtraction osteotomy to correct post-operative flat back: EOS® measurements of 38 acetabula, MASQUEFA T, VERDIER N, GILLE O, BOISSIÈRE L, OBEID I, MAILLOT C, TOURNIER C, FABRE T., Orthop Traumatol Surg Res., 2015, 101(6):655-9.

Complement- and non-complement-binding de novo donor specific anti-hla antibodies and kidney allograft survival. GUERVILLE, F, GUIDICELLI G, LEPREUX S, WIEBE C, THAUNAT O, DUBOIS V, VISENTIN J, BACHELET T, MORELON E, NICKERSON P and al. Transplant International 2015, 28(4) : 119-119  Supplement: 4.

Dementia pugilistica: a severe tribute to a career. LEPREUX S, AURIACOMBE S, VITAL C, DUBOIS B, VITAL A. Clin Neuropathol 2015, 34 (4):Pages: 193-8;

Complications maxillo-faciales associées à la pycnodysostose : Présentation de deux cas et revue de la littérature. FENELON M, CATROS S, BOISRAME S, D'INCAU E, TREGUER A, GOBEL Y, VALETTE G , FRICAIN JC. Médecine Buccale Chirurgie Buccale 2015;21:169-176.

Syndrome d'Ascher : un cas. MASSON REGNAULT E, CATROS S, FRICAIN JC. Médecine buccale Chirurgie buccale 2015;21:163-167.

Étude rétrospective de l'efficacité du Protopic® (tacrolimus) dans le traitement de la langue géographique algique Médecine buccale. HADDAD S, BORALEVI F, CATROS S, FRICAIN JC. Chirurgie buccale 2015;21:85-89.

La Cicatrisation Osseuse en Chirurgie Orale. FENELON M, MASSON-REGNAULT E, CATROS S. Réalités Cliniques 2015, en revision.

Pyostomatite végétante de la muqueuse orale : cas clinique et revue de la littérature. GUILLERMINET V, LEPREUX S, MITTLER F, CATROS S, FRICAIN JC. Médecine Buccale Chirurgie Buccale 2015;21:239-2

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.HOUCINAT N, LLANAS B, MOUTTON S, TOUTAIN J, CAILEY D, ARVEILER B, COMBE C, LACOMBE D, ROORYCK C. Am J Med Genet A. 2015 Nov;167A(11):2714-9.