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Items: 41

1.

Polyhandicap and aging.

Rousseau MC, de Villemeur TB, Khaldi-Cherif S, Brisse C, Felce A, Loundou A, Baumstarck K, Auquier P; French Polyhandicap Group. Electronic address: eval.plh@gmail.com; French Polyhandicap Group.

Disabil Health J. 2019 Oct;12(4):657-664. doi: 10.1016/j.dhjo.2019.01.013. Epub 2019 Feb 26.

PMID:
30842063
2.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct.

3.

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.

Lefebvre T, Reihani N, Daher R, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Puy H, Le Van Kim C, Franco M, Karim Z.

Haematologica. 2018 Apr;103(4):587-596. doi: 10.3324/haematol.2017.177816. Epub 2018 Jan 5.

4.

Type 3 Gaucher disease, diagnostic in adulthood.

Detollenaere C, Benghergbia M, Brassier A, de Villemeur TB, Amsallem D, Berger M, Stirnemann J, Belmatoug N, Rose C.

Mol Genet Metab Rep. 2017 Jul 11;13:1-2. doi: 10.1016/j.ymgmr.2017.07.002. eCollection 2017 Dec. No abstract available.

5.

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease.

Reihani N, Arlet JB, Dussiot M, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Hermine O, Le Van Kim C, Franco M.

Haematologica. 2016 Dec;101(12):1489-1498. Epub 2016 Jul 28.

6.

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS.

Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6.

PMID:
24415674
7.

Gaucher disease.

Mignot C, Gelot A, De Villemeur TB.

Handb Clin Neurol. 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Review.

PMID:
23622393
8.

Creutzfeldt-Jakob disease.

de Villemeur TB.

Handb Clin Neurol. 2013;112:1191-3. doi: 10.1016/B978-0-444-52910-7.00040-4. Review.

PMID:
23622328
9.

The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.

Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B, Kaminsky P, Robert A, Caillaud C, Froissart R, Levade T, Masseau A, Mignot C, Sedel F, Dobbelaere D, Vanier MT, Valayanopoulos V, Fain O, Fantin B, de Villemeur TB, Mentré F, Belmatoug N.

Orphanet J Rare Dis. 2012 Oct 9;7:77. doi: 10.1186/1750-1172-7-77.

10.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

11.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.

Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.

12.

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).

Moutard ML, Kieffer V, Feingold J, Lewin F, Baron JM, Adamsbaum C, Gélot A, Isapof A, Kieffer F, de Villemeur TB.

Prenat Diagn. 2012 Mar;32(3):277-83. doi: 10.1002/pd.3824.

PMID:
22430728
13.

[Gaucher disease].

Stirnemann J, de Villemeur TB, Heraoui D, Belmatoug N; Comité d'évaluation du traitement de la maladie de Gaucher.

Rev Prat. 2011 Feb;61(2):165-8. French. No abstract available.

PMID:
21618759
14.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M.

Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.

PMID:
21549624
15.

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.

Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, de Villemeur TB, Soupre V, Picard A, Vazquez MP.

Cleft Palate Craniofac J. 2012 May;49(3):357-64. doi: 10.1597/10-203. Epub 2011 May 3.

PMID:
21539471
16.

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.

Roubergue A, Apartis E, Mesnage V, Doummar D, Trocello JM, Roze E, Taieb G, De Villemeur TB, Vuillaumier-Barrot S, Vidailhet M, Levy R.

J Inherit Metab Dis. 2011 Apr;34(2):483-8. doi: 10.1007/s10545-010-9264-6. Epub 2011 Jan 13.

PMID:
21229316
17.

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.

Bratosin D, Tissier JP, Lapillonne H, Hermine O, de Villemeur TB, Cotoraci C, Montreuil J, Mignot C.

Cytometry B Clin Cytom. 2011 Jan;80(1):28-37. doi: 10.1002/cyto.b.20539.

18.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.

Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.

PMID:
19770472
19.

Microcephaly: a radiological review.

Tarrant A, Garel C, Germanaud D, de Villemeur TB, Mignot C, Lenoir M, le Pointe HD.

Pediatr Radiol. 2009 Aug;39(8):772-80; quiz 888-9. doi: 10.1007/s00247-009-1266-x. Epub 2009 May 13. Review.

PMID:
19437006
20.

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.

Doummar D, Clot F, Vidailhet M, Afenjar A, Durr A, Brice A, Mignot C, Guet A, de Villemeur TB, Rodriguez D.

Mov Disord. 2009 Apr 30;24(6):943-5. doi: 10.1002/mds.22455. No abstract available.

PMID:
19224593
21.

Prenatal ultrasonographic diagnosis of polymicrogyria.

Dhombres F, Nahama-Allouche C, Gelot A, Jouannic JM, de Villemeur TB, Saint-Frison MH, le Pointe HD, Garel C.

Ultrasound Obstet Gynecol. 2008 Dec;32(7):951-4. doi: 10.1002/uog.6251.

22.

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Dupont C, Delahaye A, Burglen L, Tabet AC, Aboura A, Kanafani S, Baverel F, de Villemeur TB, Benzacken B, Pipiras E.

Am J Med Genet A. 2008 Nov 15;146A(22):2971-4. doi: 10.1002/ajmg.a.32547. No abstract available.

PMID:
18925677
23.

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F.

Am J Med Genet A. 2008 Mar 1;146A(5):661-4. doi: 10.1002/ajmg.a.32180.

PMID:
18241061
24.

[Organization of Gaucher disease management in France].

Stirnemann J, de Villemeur TB, Belmatoug N.

Rev Med Interne. 2007 Oct;28 Suppl 2:S198-201. French.

PMID:
18228688
25.

Lung disease in Niemann-Pick disease.

Guillemot N, Troadec C, de Villemeur TB, Clément A, Fauroux B.

Pediatr Pulmonol. 2007 Dec;42(12):1207-14.

PMID:
17969000
26.

Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.

Passemard S, Gelot A, Fogli A, N'Guyen S, Barnerias C, Niel F, Doummar D, Arbues AS, Mignot C, de Villemeur TB, Ponsot G, Boespflug-Tanguy O, Rodriguez D.

Neurology. 2007 Jul 24;69(4):400-2. No abstract available.

PMID:
17646634
27.

Early neurological phenotype in 4 children with biallelic PRODH mutations.

Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D.

Brain Dev. 2007 Oct;29(9):547-52. Epub 2007 Apr 6.

PMID:
17412540
28.

Herpes simplex virus encephalitis in human UNC-93B deficiency.

Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Sénéchal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Héron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL.

Science. 2006 Oct 13;314(5797):308-12. Epub 2006 Sep 14.

29.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group.

Brain Dev. 2006 Jan;28(1):39-48. Review.

PMID:
16485335
30.

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Roze E, Vidailhet M, Blau N, Moller LB, Doummar D, de Villemeur TB, Roubergue A.

Mov Disord. 2006 Feb;21(2):263-6.

PMID:
16161143
31.

[Management of acute visual loss in children].

Doummar D, Roussat B, Pelosse B, Le Pointe HD, Iba-Zizen M, Roubergue A, Rodriguez D, de Villemeur TB.

Arch Pediatr. 2004 Nov;11(11):1384-8. Review. French.

PMID:
15519841
32.

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

Gérard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B, Lopez N, Lelong F, De Villemeur TB, Verloes A, Borghi E.

Am J Med Genet A. 2004 Oct 15;130A(3):299-302.

PMID:
15378535
33.

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.

Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, de Villemeur TB.

Mov Disord. 2004 Mar;19(3):344-6.

PMID:
15022193
34.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.

Haut S, de Villemeur TB, Brivet M, Guiochon-Mantel A, Boutron A, Rustin P, Legrand A, Slama A.

Eur J Hum Genet. 2004 Mar;12(3):220-4.

35.

[The role of the pediatrician in prenatal care. Example of the fetal neurological consultation].

de Villemeur TB.

Arch Pediatr. 2002 Sep;9(9):945-6. French. No abstract available.

PMID:
12416517
36.

Management of neuronopathic Gaucher disease: a European consensus.

Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A; Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease.

J Inherit Metab Dis. 2001 Jun;24(3):319-27. Review. No abstract available.

PMID:
11486896
37.

[Neurotoxicity of cytostatic treatments in pediatrics].

Caubel I, Landman-Parker J, Pellegrino B, de Villemeur TB.

Arch Pediatr. 2001 May;8 Suppl 2:322s-324s. French. No abstract available.

PMID:
11394102
38.

Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

Houdayer C, Lemonnier A, Gerard M, Chauve C, Tredano M, de Villemeur TB, Aymard P, Bonnefont JP, Feldmann D.

Clin Chem Lab Med. 1999 Apr;37(4):397-402.

PMID:
10369109
39.

Genotype at codon 129 and susceptibility to Creutzfeldt-Jakob disease.

Deslys JP, Jaegly A, d'Aignaux JH, Mouthon F, de Villemeur TB, Dormont D.

Lancet. 1998 Apr 25;351(9111):1251. No abstract available.

PMID:
9643750
40.

[Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Cérédase)].

Belmatoug N, Azorin M, Huten D, de Villemeur TB, Carbon C.

Rev Med Interne. 1993;14(10):996. French.

PMID:
8009089
41.

[Progressive bulbopontine paralysis in children].

Beauvais P, Roubergue A, de Villemeur TB, Richardet JM.

Arch Fr Pediatr. 1988 Nov;45(9):653-5. Review. French.

PMID:
3069072

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