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Items: 1 to 50 of 288

1.

Pituitary deficiency and precocious puberty after childhood severe traumatic brain injury: a long-term follow-up prospective study.

Dassa Y, Crosnier H, Chevignard M, Viaud M, Personnier C, Fletchner I, Meyer P, Puget S, Boddaert N, Breton S, Polak M.

Eur J Endocrinol. 2019 Mar 1. pii: EJE-19-0034.R1. doi: 10.1530/EJE-19-0034. [Epub ahead of print]

PMID:
30884465
2.

CT and Multimodal MR Imaging Features of Embryonal Tumors with Multilayered Rosettes in Children.

Dangouloff-Ros V, Tauziède-Espariat A, Roux CJ, Levy R, Grévent D, Brunelle F, Gareton A, Puget S, Beccaria K, Blauwblomme T, Grill J, Dufour C, Varlet P, Boddaert N.

AJNR Am J Neuroradiol. 2019 Mar 7. doi: 10.3174/ajnr.A6001. [Epub ahead of print]

PMID:
30846437
3.

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed charge syndrome individuals.

Millischer AE, Sonigo P, Attie T, Spaggiari E, O'Gorman N, Bessieres B, Kermorvant E, Boddaert N, Salomon LJ, Grevent D.

Prenat Diagn. 2019 Feb 4. doi: 10.1002/pd.5429. [Epub ahead of print]

PMID:
30715739
4.

Aortic angle is associated with neo-aortic root dilatation and regurgitation following arterial switch operation.

Martins D, Khraiche D, Legendre A, Boddaert N, Raisky O, Bonnet D, Raimondi F.

Int J Cardiol. 2019 Apr 1;280:53-56. doi: 10.1016/j.ijcard.2019.01.042. Epub 2019 Jan 11.

PMID:
30660585
5.

Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease.

Berteloot L, Proisy M, Jais JP, Lévy M, Boddaert N, Bonnet D, Raimondi F.

Pediatr Radiol. 2019 Jan 16. doi: 10.1007/s00247-018-04331-y. [Epub ahead of print]

PMID:
30652195
6.

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Pulman J, Ruzzenente B, Bianchi L, Rio M, Boddaert N, Munnich A, Rötig A, Metodiev MD.

Hum Mol Genet. 2018 Dec 19. doi: 10.1093/hmg/ddy441. [Epub ahead of print]

PMID:
30566640
7.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ.

N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. No abstract available.

PMID:
30566312
8.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

9.

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Le Quang Sang KH, Baujat G, Rio M, Boute O, Faivre L, Schaefer E, Sanlaville D, Zilbovicius M, Grévent D, Geneviève D, Boddaert N.

Neuroimage Clin. 2019;21:101610. doi: 10.1016/j.nicl.2018.11.020. Epub 2018 Nov 19.

10.

Arterial Spin Labeling and Central Precocious Puberty.

Denis J, Dangouloff-Ros V, Pinto G, Flechtner I, Piketty M, Samara D, Levy R, Grévent D, Millischer AE, Brunelle F, Prevot V, Polak M, Boddaert N.

Clin Neuroradiol. 2018 Nov 5. doi: 10.1007/s00062-018-0738-5. [Epub ahead of print]

PMID:
30397727
11.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):773-782. doi: 10.1016/j.ejmg.2018.10.015. Epub 2018 Nov 1.

PMID:
30391507
12.

Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging.

Pagès M, Pajtler KW, Puget S, Castel D, Boddaert N, Tauziède-Espariat A, Picot S, Debily MA, Kool M, Capper D, Sainte-Rose C, Chrétien F, Pfister SM, Pietsch T, Grill J, Varlet P, Andreiuolo F.

Brain Pathol. 2018 Oct 16. doi: 10.1111/bpa.12664. [Epub ahead of print]

PMID:
30325077
13.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11.

PMID:
30315939
14.

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27.

PMID:
30268909
15.

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Ruzzenente B, Assouline Z, Barcia G, Rio M, Boddaert N, Munnich A, Rötig A, Metodiev MD.

Hum Mutat. 2018 Dec;39(12):2047-2059. doi: 10.1002/humu.23657. Epub 2018 Oct 3.

PMID:
30252186
16.

Imaging features of medulloblastoma: Conventional imaging, diffusion-weighted imaging, perfusion-weighted imaging, and spectroscopy: From general features to subtypes and characteristics.

Dangouloff-Ros V, Varlet P, Levy R, Beccaria K, Puget S, Dufour C, Boddaert N.

Neurochirurgie. 2018 Aug 28. pii: S0028-3770(17)30178-9. doi: 10.1016/j.neuchi.2017.10.003. [Epub ahead of print] Review.

PMID:
30170827
17.

Correction to: Diffusion tensor imaging (DTI) and Tractography of the spinal cord in pediatric population with spinal lipomas: preliminary study.

Antherieu P, Levy R, De Saint Denis T, Lohkamp L, Paternoster G, Di Rocco F, Boddaert N, Zerah M.

Childs Nerv Syst. 2019 Jan;35(1):139. doi: 10.1007/s00381-018-3952-1.

PMID:
30136089
18.

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):755-758. doi: 10.1016/j.ejmg.2018.08.001. Epub 2018 Aug 16.

PMID:
30121372
19.

Diffusion tensor imaging (DTI) and Tractography of the spinal cord in pediatric population with spinal lipomas: preliminary study.

Antherieu P, Levy R, De Saint Denis T, Lohkamp L, Paternoster G, Di Rocco F, Boddaert N, Zerah M.

Childs Nerv Syst. 2019 Jan;35(1):129-137. doi: 10.1007/s00381-018-3935-2. Epub 2018 Aug 2. Erratum in: Childs Nerv Syst. 2018 Aug 22;:.

PMID:
30073389
20.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.

Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13.

PMID:
29899452
21.

Myocardial inflammation detected by cardiac MRI in Arrhythmogenic right ventricular cardiomyopathy: A paediatric case series.

Martins D, Ovaert C, Khraiche D, Boddaert N, Bonnet D, Raimondi F.

Int J Cardiol. 2018 Nov 15;271:81-86. doi: 10.1016/j.ijcard.2018.05.116. Epub 2018 May 31.

PMID:
29885824
22.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V.

Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.

PMID:
29878067
23.

Low-dose paediatric cardiac and thoracic computed tomography with prospective triggering: Is it possible at any heart rate?

Habib Geryes B, Calmon R, Donciu V, Khraiche D, Warin-Fresse K, Bonnet D, Boddaert N, Raimondi F.

Phys Med. 2018 May;49:99-104. doi: 10.1016/j.ejmp.2018.05.015. Epub 2018 May 22.

PMID:
29866350
24.

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I.

Eur J Paediatr Neurol. 2018 Sep;22(5):854-861. doi: 10.1016/j.ejpn.2018.05.005. Epub 2018 May 22.

PMID:
29859652
25.

Challenges in managing epilepsy associated with focal cortical dysplasia in children.

Wong-Kisiel LC, Blauwblomme T, Ho ML, Boddaert N, Parisi J, Wirrell E, Nabbout R.

Epilepsy Res. 2018 Sep;145:1-17. doi: 10.1016/j.eplepsyres.2018.05.006. Epub 2018 May 14. Review.

PMID:
29803953
26.

Pierre Robin sequence: A comprehensive narrative review of the literature over time.

Giudice A, Barone S, Belhous K, Morice A, Soupre V, Bennardo F, Boddaert N, Vazquez MP, Abadie V, Picard A.

J Stomatol Oral Maxillofac Surg. 2018 Nov;119(5):419-428. doi: 10.1016/j.jormas.2018.05.002. Epub 2018 May 17.

PMID:
29777780
27.

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

Cavallin M, Maillard C, Hully M, Philbert M, Boddaert N, Reilly ML, Nitschké P, Bery A, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):729-732. doi: 10.1016/j.ejmg.2018.05.002. Epub 2018 May 25.

PMID:
29758293
28.

Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A Collaborative Report From the International and European Society for Pediatric Oncology DIPG Registries.

Hoffman LM, Veldhuijzen van Zanten SEM, Colditz N, Baugh J, Chaney B, Hoffmann M, Lane A, Fuller C, Miles L, Hawkins C, Bartels U, Bouffet E, Goldman S, Leary S, Foreman NK, Packer R, Warren KE, Broniscer A, Kieran MW, Minturn J, Comito M, Broxson E, Shih CS, Khatua S, Chintagumpala M, Carret AS, Escorza NY, Hassall T, Ziegler DS, Gottardo N, Dholaria H, Doughman R, Benesch M, Drissi R, Nazarian J, Jabado N, Boddaert N, Varlet P, Giraud G, Castel D, Puget S, Jones C, Hulleman E, Modena P, Giagnacovo M, Antonelli M, Pietsch T, Gielen GH, Jones DTW, Sturm D, Pfister SM, Gerber NU, Grotzer MA, Pfaff E, von Bueren AO, Hargrave D, Solanki GA, Jadrijevic Cvrlje F, Kaspers GJL, Vandertop WP, Grill J, Bailey S, Biassoni V, Massimino M, Calmon R, Sanchez E, Bison B, Warmuth-Metz M, Leach J, Jones B, van Vuurden DG, Kramm CM, Fouladi M.

J Clin Oncol. 2018 Jul 1;36(19):1963-1972. doi: 10.1200/JCO.2017.75.9308. Epub 2018 May 10.

29.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S.

Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684.

PMID:
29681083
30.

Computation of reliable textural indices from multimodal brain MRI: suggestions based on a study of patients with diffuse intrinsic pontine glioma.

Goya-Outi J, Orlhac F, Calmon R, Alentorn A, Nioche C, Philippe C, Puget S, Boddaert N, Buvat I, Grill J, Frouin V, Frouin F.

Phys Med Biol. 2018 May 10;63(10):105003. doi: 10.1088/1361-6560/aabd21.

PMID:
29633962
31.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.

32.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. No abstract available.

PMID:
29529130
33.

Historadiological correlations in high-grade glioma with the histone 3.3 G34R mutation.

Puntonet J, Dangouloff-Ros V, Saffroy R, Pagès M, Andreiuolo F, Grill J, Puget S, Boddaert N, Varlet P.

J Neuroradiol. 2018 Sep;45(5):316-322. doi: 10.1016/j.neurad.2018.02.006. Epub 2018 Mar 2.

PMID:
29505840
34.

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, Habarou F, Bole-Feysot C, Nitschké P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rötig A.

Am J Hum Genet. 2018 Feb 1;102(2):266-277. doi: 10.1016/j.ajhg.2018.01.003.

35.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

de Beaurepaire I, Grévent D, Rio M, Desguerre I, de Lonlay P, Levy R, Dangouloff-Ros V, Bonnefont JP, Barcia G, Funalot B, Besmond C, Metodiev MD, Ruzzenente B, Assouline Z, Munnich A, Rötig A, Boddaert N.

J Med Genet. 2018 Jun;55(6):378-383. doi: 10.1136/jmedgenet-2017-105094. Epub 2018 Jan 22.

PMID:
29358270
36.

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA.

Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.

37.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ.

Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3.

38.

Cerebral blood flow changes after radiation therapy identifies pseudoprogression in diffuse intrinsic pontine gliomas.

Calmon R, Puget S, Varlet P, Dangouloff-Ros V, Blauwblomme T, Beccaria K, Grevent D, Sainte-Rose C, Castel D, Debily MA, Dufour C, Bolle S, Dhermain F, Saitovitch A, Zilbovicius M, Brunelle F, Grill J, Boddaert N.

Neuro Oncol. 2018 Jun 18;20(7):994-1002. doi: 10.1093/neuonc/nox227.

PMID:
29244086
39.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I.

Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30.

40.

Diffuse intrinsic pontine gliomas (DIPG) at recurrence: is there a window to test new therapies in some patients?

Lobon-Iglesias MJ, Giraud G, Castel D, Philippe C, Debily MA, Briandet C, Fouyssac F, de Carli E, Dufour C, Valteau-Couanet D, Sainte-Rose C, Blauwblomme T, Beccaria K, Zerah M, Puget S, Calmon R, Boddaert N, Bolle S, Varlet P, Grill J.

J Neurooncol. 2018 Mar;137(1):111-118. doi: 10.1007/s11060-017-2702-7. Epub 2017 Dec 2.

PMID:
29198053
41.

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J.

Am J Med Genet A. 2018 Jan;176(1):181-186. doi: 10.1002/ajmg.a.38536. Epub 2017 Nov 21.

PMID:
29159987
42.

Cardiac Magnetic Resonance Myocardial Perfusion After Arterial Switch for Transposition of Great Arteries.

Raimondi F, Aquaro GD, De Marchi D, Sandrini C, Khraiche D, Festa P, Ait Ali L, Boddaert N, Bonnet D.

JACC Cardiovasc Imaging. 2018 May;11(5):778-779. doi: 10.1016/j.jcmg.2017.07.015. Epub 2017 Oct 18. No abstract available.

PMID:
29055630
43.

Predictors of Outcome in Patients with Pediatric Intracerebral Hemorrhage: Development and Validation of a Modified Score.

Guédon A, Blauwblomme T, Boulouis G, Jousset C, Meyer P, Kossorotoff M, Bourgeois M, Puget S, Zerah M, Oppenheim C, Meder JF, Boddaert N, Brunelle F, Sainte-Rose C, Naggara O.

Radiology. 2018 Feb;286(2):651-658. doi: 10.1148/radiol.2017170152. Epub 2017 Oct 12.

PMID:
29023219
44.

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219.

PMID:
28969390
45.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N.

Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218.

PMID:
28969387
46.

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
47.

Fetal MRI compared with ultrasound for the diagnosis of obstructive genital malformations.

Millischer AE, Grevent D, Rousseau V, O'Gorman N, Sonigo P, Bessieres B, Ville Y, Boddaert N, Salomon LJ.

Prenat Diagn. 2017 Nov;37(11):1138-1145. doi: 10.1002/pd.5155. Epub 2017 Oct 26.

PMID:
28921932
48.

Multimodal Magnetic Resonance Imaging of Treatment-Induced Changes to Diffuse Infiltrating Pontine Gliomas in Children and Correlation to Patient Progression-Free Survival.

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