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Items: 1 to 50 of 247

1.

Deciphering exome sequencing data: bringing mitochondrial DNA variants to light.

Garret P, Bris C, Procaccio V, Bonneau PA, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel AL, Quéré V, Philippe C, Sorlin A, Mau-Them FT, Vitobello A, Costa JM, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y.

Hum Mutat. 2019 Aug 5. doi: 10.1002/humu.23885. [Epub ahead of print]

PMID:
31379041
2.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N; Orphanomix Physician’s Group, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C.

Eur J Hum Genet. 2019 Jun 23. doi: 10.1038/s41431-019-0442-1. [Epub ahead of print]

PMID:
31231135
3.

Lipidoid-siRNA Nanoparticle-Mediated IL-1β Gene Silencing for Systemic Arthritis Therapy in a Mouse Model.

Song P, Yang C, Thomsen JS, Dagnæs-Hansen F, Jakobsen M, Brüel A, Deleuran B, Kjems J.

Mol Ther. 2019 Aug 7;27(8):1424-1435. doi: 10.1016/j.ymthe.2019.05.002. Epub 2019 May 15.

PMID:
31153827
4.

Development of practical recommendations for diagnostic accuracy studies in low-prevalence situations.

Holtman GA, Berger MY, Burger H, Deeks JJ, Donner-Banzhoff N, Fanshawe TR, Koshiaris C, Leeflang MM, Oke JL, Perera R, Reitsma JB, Van den Bruel A.

J Clin Epidemiol. 2019 May 28;114:38-48. doi: 10.1016/j.jclinepi.2019.05.018. [Epub ahead of print] Review.

PMID:
31150837
5.

No Signature of Osteocytic Osteolysis in Cortical Bone from Lactating NMRI Mice.

Wittig NK, Birkbak ME, Bach-Gansmo FL, Pacureanu A, Wendelboe MH, Brüel A, Thomsen JS, Birkedal H.

Calcif Tissue Int. 2019 Sep;105(3):308-315. doi: 10.1007/s00223-019-00569-2. Epub 2019 May 30.

PMID:
31147741
6.

Canalicular Junctions in the Osteocyte Lacuno-Canalicular Network of Cortical Bone.

Wittig NK, Laugesen M, Birkbak ME, Bach-Gansmo FL, Pacureanu A, Bruns S, Wendelboe MH, Brüel A, Sørensen HO, Thomsen JS, Birkedal H.

ACS Nano. 2019 Jun 25;13(6):6421-6430. doi: 10.1021/acsnano.8b08478. Epub 2019 May 22.

PMID:
31095362
7.

Diagnostic evidence cooperatives: bridging the valley of death in diagnostics development.

Van den Bruel A, Hayward G.

Diagn Progn Res. 2018 Jun 18;2:9. doi: 10.1186/s41512-018-0030-9. eCollection 2018.

8.

Predictors of Adverse Outcomes in Uncomplicated Lower Respiratory Tract Infections.

Moore M, Stuart B, Lown M, Van den Bruel A, Smith S, Knox K, Thompson MJ, Little P.

Ann Fam Med. 2019 May;17(3):231-238. doi: 10.1370/afm.2386.

9.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW.

Am J Hum Genet. 2019 Jun 6;104(6):1040-1059. doi: 10.1016/j.ajhg.2019.03.024. Epub 2019 May 9.

PMID:
31079900
10.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Lecoquierre F, Duffourd Y, Vitobello A, Bruel AL, Urteaga B, Coubes C, Garret P, Nambot S, Chevarin M, Jouan T, Moutton S; Orphanomix Physician’s Group, Tran-Mau-Them F, Philippe C, Sorlin A, Faivre L, Thauvin-Robinet C.

Genet Med. 2019 Apr 30. doi: 10.1038/s41436-019-0518-x. [Epub ahead of print]

PMID:
31036916
11.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L.

Eur J Hum Genet. 2019 Aug;27(8):1197-1214. doi: 10.1038/s41431-019-0384-7. Epub 2019 Apr 24.

PMID:
31019283
12.

C-reactive protein and neutrophil count laboratory test requests from primary care: what is the demand and would substitution by point-of-care technology be viable?

Ordóñez-Mena JM, Fanshawe TR, McCartney D, Shine B, Van den Bruel A, Lasserson D, Hayward G.

J Clin Pathol. 2019 Jul;72(7):474-481. doi: 10.1136/jclinpath-2018-205688. Epub 2019 Apr 16.

PMID:
30992343
13.

Synchronous delivery of hydroxyapatite and connective tissue growth factor derived osteoinductive peptide enhanced osteogenesis.

Xu R, Zhang Z, Toftdal MS, Møller AC, Dagnaes-Hansen F, Dong M, Thomsen JS, Brüel A, Chen M.

J Control Release. 2019 May 10;301:129-139. doi: 10.1016/j.jconrel.2019.02.037. Epub 2019 Mar 14.

PMID:
30880079
14.

Is stratification testing for treatment of chronic obstructive pulmonary disease exacerbations cost-effective in primary care? an early cost-utility analysis.

Abel L, Dakin HA, Roberts N, Ashdown HF, Butler CC, Hayward G, Van den Bruel A, Turner PJ, Yang Y.

Int J Technol Assess Health Care. 2019 Jan;35(2):116-125. doi: 10.1017/S0266462318003707. Epub 2019 Mar 4.

PMID:
30829566
15.

Impact of point-of-care C reactive protein in ambulatory care: a systematic review and meta-analysis.

Verbakel JY, Lee JJ, Goyder C, Tan PS, Ananthakumar T, Turner PJ, Hayward G, Van den Bruel A.

BMJ Open. 2019 Feb 1;9(1):e025036. doi: 10.1136/bmjopen-2018-025036.

16.

A follistatin-based molecule increases muscle and bone mass without affecting the red blood cell count in mice.

Lodberg A, van der Eerden BCJ, Boers-Sijmons B, Thomsen JS, Brüel A, van Leeuwen JPTM, Eijken M.

FASEB J. 2019 May;33(5):6001-6010. doi: 10.1096/fj.201801969RR. Epub 2019 Feb 13.

PMID:
30759349
17.

The successful uptake and sustainability of rapid infectious disease and antimicrobial resistance point-of-care testing requires a complex 'mix-and-match' implementation package.

Hays JP, Mitsakakis K, Luz S, van Belkum A, Becker K, van den Bruel A, Harbarth S, Rex JH, Simonsen GS, Werner G, Di Gregori V, Lüdke G, van Staa T, Moran-Gilad J, Bachmann TT; JPIAMR AMR-RDT consortium.

Eur J Clin Microbiol Infect Dis. 2019 Jun;38(6):1015-1022. doi: 10.1007/s10096-019-03492-4. Epub 2019 Feb 2. Review.

18.

The diagnostic performance of current tumour markers in surveillance for recurrent testicular cancer: A diagnostic test accuracy systematic review.

Nicholson BD, Jones NR, Protheroe A, Joseph J, Roberts NW, Van den Bruel A, Fanshawe TR.

Cancer Epidemiol. 2019 Apr;59:15-21. doi: 10.1016/j.canep.2019.01.001. Epub 2019 Jan 15. Review.

PMID:
30658216
19.

Point-of-care C-reactive protein to assist in primary care management of children with suspected non-serious lower respiratory tract infection: a randomised controlled trial.

Schot MJ, Van den Bruel A, Broekhuizen BD, Cals JW, Noteboom EA, Balemans W, Hopstaken RM, van Delft S, de Wit NJ, Verheij TJ.

BJGP Open. 2018 Jul 11;2(3):bjgpopen18X101600. doi: 10.3399/bjgpopen18X101600. eCollection 2018 Oct.

20.

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N; Orphanomix Physicians’ Group, Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron AL, Callier P, Philippe C, Faivre L, Thauvin-Robinet C.

Genet Med. 2019 Jul;21(7):1657-1661. doi: 10.1038/s41436-018-0383-z. Epub 2018 Dec 19.

PMID:
30563986
21.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L.

Am J Med Genet A. 2018 Dec;176(12):2740-2750. doi: 10.1002/ajmg.a.40662. Epub 2018 Dec 10.

PMID:
30548201
22.

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.

Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, Genevieve D, Sarda P, Bruel AL, Kuentz P, Wells CF, Faivre L, Willems M.

Am J Med Genet A. 2018 Dec;176(12):2813-2818. doi: 10.1002/ajmg.a.40510. Epub 2018 Oct 26.

PMID:
30365874
23.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. No abstract available.

24.

The Clinical Utility of Point-of-Care Tests for Influenza in Ambulatory Care: A Systematic Review and Meta-analysis.

Lee JJ, Verbakel JY, Goyder CR, Ananthakumar T, Tan PS, Turner PJ, Hayward G, Van den Bruel A.

Clin Infect Dis. 2019 Jun 18;69(1):24-33. doi: 10.1093/cid/ciy837.

25.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
26.

Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I.

Bruel A, Bacchetta J, Ginhoux T, Rodier-Bonifas C, Sellier-Leclerc AL, Fromy B, Cochat P, Sigaudo-Roussel D, Dubourg L.

Pediatr Nephrol. 2019 Feb;34(2):319-327. doi: 10.1007/s00467-018-4081-5. Epub 2018 Oct 1.

PMID:
30276532
27.

Frequencies and patterns of laboratory test requests from general practice: a service evaluation to inform point-of-care testing.

Fanshawe TR, Ordóñez-Mena JM, Turner PJ, Bruel AVD, Shine B, Hayward GN.

J Clin Pathol. 2018 Dec;71(12):1065-1071. doi: 10.1136/jclinpath-2018-205242. Epub 2018 Sep 18.

PMID:
30228215
28.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A.

Nat Genet. 2018 Oct;50(10):1442-1451. doi: 10.1038/s41588-018-0220-y. Epub 2018 Sep 17.

PMID:
30224647
29.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

PMID:
30206421
30.

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L.

Eur J Med Genet. 2019 Jun;62(6):103529. doi: 10.1016/j.ejmg.2018.08.010. Epub 2018 Aug 28. Review.

PMID:
30165243
31.

Septins are critical regulators of osteoclastic bone resorption.

Møller AMJ, Füchtbauer EM, Brüel A, Andersen TL, Borggaard XG, Pavlos NJ, Thomsen JS, Pedersen FS, Delaisse JM, Søe K.

Sci Rep. 2018 Aug 29;8(1):13016. doi: 10.1038/s41598-018-31159-1.

32.

Early detection of multiple myeloma in primary care using blood tests: a case-control study in primary care.

Koshiaris C, Van den Bruel A, Oke JL, Nicholson BD, Shephard E, Braddick M, Hamilton W.

Br J Gen Pract. 2018 Sep;68(674):e586-e593. doi: 10.3399/bjgp18X698357. Epub 2018 Aug 13.

33.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

34.

Intracortical Bone Mechanics Are Related to Pore Morphology and Remodeling in Human Bone.

Bakalova LP, Andreasen CM, Thomsen JS, Brüel A, Hauge EM, Kiil BJ, Delaisse JM, Andersen TL, Kersh ME.

J Bone Miner Res. 2018 Dec;33(12):2177-2185. doi: 10.1002/jbmr.3561. Epub 2018 Aug 29.

PMID:
30048570
35.

The effect of oral dabigatran etexilate on bone density, strength, and microstructure in healthy mice.

Brent MB, Thomsen JS, Brüel A.

Bone Rep. 2017 Dec 18;8:9-17. doi: 10.1016/j.bonr.2017.12.001. eCollection 2018 Jun.

36.

Quantifying intervals to diagnosis in myeloma: a systematic review and meta-analysis.

Koshiaris C, Oke J, Abel L, Nicholson BD, Ramasamy K, Van den Bruel A.

BMJ Open. 2018 Jun 22;8(6):e019758. doi: 10.1136/bmjopen-2017-019758.

37.

A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.

Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B.

J Obstet Gynaecol. 2019 Apr;39(3):395-397. doi: 10.1080/01443615.2018.1454415. Epub 2018 Jun 12. No abstract available.

PMID:
29893154
38.

Zoledronic acid prevents disuse osteopenia and augments gene expression of osteoclastic differentiation markers in mice.

Vegger JB, Brüel A, Thomsen JS.

J Musculoskelet Neuronal Interact. 2018 Jun 1;18(2):165-175.

39.

Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time.

Jensen N, Schrøder HD, Hejbøl EK, Thomsen JS, Brüel A, Larsen FT, Vinding MC, Orlowski D, Füchtbauer EM, Oliveira JRM, Pedersen L.

Am J Pathol. 2018 Aug;188(8):1865-1881. doi: 10.1016/j.ajpath.2018.04.010. Epub 2018 May 25.

PMID:
29803831
40.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Erratum in: Am J Hum Genet. 2018 Oct 4;103(4):631.

41.

"White Thyroid" on Unenhanced Computed Tomography in Amiodarone-Induced Thyrotoxicosis Type 2.

Van den Bruel A, Delanote J, Braeckman A, De Vroe C, Pyfferoen L, Ghekiere J, Duytschaever M, Tavernier R.

Thyroid. 2018 Jun;28(6):769-772. doi: 10.1089/thy.2017.0651. Epub 2018 May 11.

PMID:
29631498
42.

Ofatumumab in post-transplantation recurrence of a pediatric steroid-resistant idiopathic nephrotic syndrome.

Bernard J, Bruel A, Allain-Launay E, Dantal J, Roussey G.

Pediatr Transplant. 2018 Jun;22(4):e13175. doi: 10.1111/petr.13175. Epub 2018 Mar 23.

PMID:
29569812
43.

Opportunities for earlier diagnosis of type 1 diabetes in children: A case-control study using routinely collected primary care records.

Lee JJ, Thompson MJ, Usher-Smith JA, Koshiaris C, Van den Bruel A.

Prim Care Diabetes. 2018 Jun;12(3):254-264. doi: 10.1016/j.pcd.2018.02.002. Epub 2018 Mar 13.

44.

A soluble activin type IIA receptor mitigates the loss of femoral neck bone strength and cancellous bone mass in a mouse model of disuse osteopenia.

Lodberg A, Eijken M, van der Eerden BCJ, Okkels MW, Thomsen JS, Brüel A.

Bone. 2018 May;110:326-334. doi: 10.1016/j.bone.2018.02.026. Epub 2018 Feb 28.

PMID:
29499419
45.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C.

Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2. No abstract available.

PMID:
29498412
46.

PTH (1-34) and growth hormone in prevention of disuse osteopenia and sarcopenia in rats.

Brent MB, Brüel A, Thomsen JS.

Bone. 2018 May;110:244-253. doi: 10.1016/j.bone.2018.02.017. Epub 2018 Feb 20.

PMID:
29475111
47.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L.

Clin Genet. 2018 Jun;93(6):1172-1178. doi: 10.1111/cge.13243. Epub 2018 Apr 14.

PMID:
29460436
48.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

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