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Items: 1 to 20 of 249

1.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
2.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G.

Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18.

PMID:
30659139
3.

Sex differences in mandibular repositioning device therapy effectiveness in patients with obstructive sleep apnea syndrome.

Vecchierini MF, Attali V, Collet JM, d'Ortho MP, Goutorbe F, Kerbrat JB, Leger D, Lavergne F, Monaca C, Monteyrol PJ, Morin L, Mullens E, Pigearias B, Martin F, Khemliche H, Lerousseau L, Meurice JC; ORCADES investigators, Abedipour D, Allard-Redon A, Aranda A, Attali V, Bavozet F, Becu M, Beruben W, Bessard J, Bonafe I, Boukhana M, Chabrol B, Chatte G, Lebret C, Collet JM, Coste O, Dumont N, Durand-Amat S, D'ortho MP, Elbaum JM, De Santerre OG, Goutorbes F, Grandjean T, Guyot W, Hammer D, Havasi C, Huet P, Kerbrat JB, Khemliche H, Koltes C, Leger D, Lacassagne L, Laur X, Lerousseau L, Liard O, Loisel C, Longuet M, Mallart A, Martin F, Merle Beral F, Meurice JC, Mokhtari Z, Monaca C, Monteyrol PJ, Muir JF, Mullens E, Muller D, Paoli C, Petit FX, Pigearias B, Pradines M, Prigent A, Putterman G, Rey M, Samama M, Tamisier R, Tiberge M, Tison C, Tordjman F, Triolet B, Vacher C, Vecchierini MF, Verain A.

Sleep Breath. 2018 Dec 22. doi: 10.1007/s11325-018-1766-8. [Epub ahead of print]

PMID:
30580418
4.

The medical and social outcome in 2016 of infants who were victims of shaken baby syndrome between 2005 and 2013.

Antonietti J, Resseguier N, Dubus JC, Scavarda D, Girard N, Chabrol B, Bosdure E.

Arch Pediatr. 2019 Jan;26(1):21-29. doi: 10.1016/j.arcped.2018.10.002. Epub 2018 Dec 14.

PMID:
30554853
5.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
6.

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N.

BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632.

7.

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations.

Hoebeke C, Bonello-Palot N, Audic F, Boulay C, Tufod D, Attarian S, Chabrol B.

Arch Pediatr. 2018 Nov;25(8):452-458. doi: 10.1016/j.arcped.2018.09.006. Epub 2018 Oct 16.

PMID:
30340945
8.

Muscle Shortening and Spastic Cocontraction in Gastrocnemius Medialis and Peroneus Longus in Very Young Hemiparetic Children.

Vinti M, Bayle N, Merlo A, Authier G, Pesenti S, Jouve JL, Chabrol B, Gracies JM, Boulay C.

Biomed Res Int. 2018 May 21;2018:2328601. doi: 10.1155/2018/2328601. eCollection 2018.

9.

Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

Chabrol B, Jacquin P, Francois L, Broué P, Dobbelaere D, Douillard C, Dubois S, Feillet F, Perrier A, Fouilhoux A, Labarthe F, Lamireau D, Mazodier K, Maillot F, Mochel F, Schiff M, Belmatoug N.

Arch Pediatr. 2018 Jun 15. pii: S0929-693X(18)30115-5. doi: 10.1016/j.arcped.2018.05.009. [Epub ahead of print]

PMID:
29914755
10.

Infant botulism: Two case reports and electroneuromyogram findings.

Bernardor J, Neveu J, Haas H, Pitelet G, Popoff MR, Mazuet C, Bérard E, Boulay C, Chabrol B.

Arch Pediatr. 2018 Jun 7. pii: S0929-693X(18)30108-8. doi: 10.1016/j.arcped.2018.05.002. [Epub ahead of print]

PMID:
29887515
11.

Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

Cignetti F, Vaugoyeau M, Fontan A, Jover M, Livet MO, Hugonenq C, Audic F, Chabrol B, Assaiante C.

Res Dev Disabil. 2018 May;76:25-34. doi: 10.1016/j.ridd.2018.03.001. Epub 2018 Mar 14.

PMID:
29547764
12.

2018, a turning point for the Archives de Pédiatrie.

Chabrol B.

Arch Pediatr. 2018 Jan;25(1):1-2. doi: 10.1016/j.arcped.2017.12.013. No abstract available.

PMID:
29332702
13.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
14.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP.

Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12.

PMID:
29130637
15.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.

J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. Review.

PMID:
28954837
16.

Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Barraud C, Desguerre I, Barnerias C, Gitiaux C, Boulay C, Chabrol B.

Muscle Nerve. 2018 Apr;57(4):603-609. doi: 10.1002/mus.25965. Epub 2017 Oct 11.

PMID:
28877546
17.

[From TORCH to TORCHZ: Zika virus infection highlights infectious fetopathies].

Morand A, Zandotti C, Charrel R, Minodier P, Fabre A, Chabrol B, De Lamballerie X.

Arch Pediatr. 2017 Oct;24(10):911-913. doi: 10.1016/j.arcped.2017.08.002. Epub 2017 Sep 1. French. No abstract available.

PMID:
28870816
18.

[Teaching pediatrics to residents via conventional lectures in France: A national survey from students].

Girard B, Bendavid M, Faivre JC, Salleron J, Debillon T, Claris O, Chabrol B, Schweitzer C, Gajdos V.

Arch Pediatr. 2017 Aug;24(8):728-736. doi: 10.1016/j.arcped.2017.05.009. Epub 2017 Jun 29. French.

PMID:
28669648
19.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V.

Mol Genet Metab. 2017 Jul;121(3):224-226. doi: 10.1016/j.ymgme.2017.05.002. Epub 2017 May 4.

PMID:
28529009
20.

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Villeneuve N, Abidi A, Cacciagli P, Mignon-Ravix C, Chabrol B, Villard L, Milh M.

Eur J Paediatr Neurol. 2017 Sep;21(5):783-786. doi: 10.1016/j.ejpn.2017.04.001. Epub 2017 Apr 29.

PMID:
28506426

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