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Items: 1 to 50 of 279

1.

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
2.

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 Nov 1. pii: S1769-7212(17)30771-1. doi: 10.1016/j.ejmg.2018.10.015. [Epub ahead of print]

PMID:
30391507
3.

Diagnostics of Paediatric 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, Marie-Anne D, 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
4.

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 Oct 11. pii: S1769-7212(17)30844-3. doi: 10.1016/j.ejmg.2018.10.004. [Epub ahead of print]

PMID:
30315939
5.

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 Sep 27. pii: S1769-7212(17)30791-7. doi: 10.1016/j.ejmg.2018.09.012. [Epub ahead of print]

PMID:
30268909
6.

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 Sep 25. doi: 10.1002/humu.23657. [Epub ahead of print]

PMID:
30252186
7.

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
8.

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. 2018 Aug 22. doi: 10.1007/s00381-018-3952-1. [Epub ahead of print]

PMID:
30136089
9.

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 Aug 16. pii: S1769-7212(17)30720-6. doi: 10.1016/j.ejmg.2018.08.001. [Epub ahead of print]

PMID:
30121372
10.

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. 2018 Aug 2. doi: 10.1007/s00381-018-3935-2. [Epub ahead of print] Erratum in: Childs Nerv Syst. 2018 Aug 22;:.

PMID:
30073389
11.

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
12.

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
13.

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
14.

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
15.

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
16.

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
17.

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
18.

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 May 25. pii: S1769-7212(17)30773-5. doi: 10.1016/j.ejmg.2018.05.002. [Epub ahead of print]

PMID:
29758293
19.

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.

20.

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
21.

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
22.

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.

23.

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
24.

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
25.

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.

26.

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
27.

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.

28.

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.

29.

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
30.

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.

31.

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
32.

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
33.

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
34.

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
35.

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
36.

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
37.

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
38.

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
39.

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

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

Int J Radiat Oncol Biol Phys. 2017 Oct 1;99(2):476-485. doi: 10.1016/j.ijrobp.2017.04.007. Epub 2017 Apr 11.

PMID:
28871999
40.

Individual radiation exposure from computed tomography: a survey of paediatric practice in French university hospitals, 2010-2013.

Journy NMY, Dreuil S, Boddaert N, Chateil JF, Defez D, Ducou-le-Pointe H, Garcier JM, Guersen J, Habib Geryes B, Jahnen A, Lee C, Payen-de-la-Garanderie J, Pracros JP, Sirinelli D, Thierry-Chef I, Bernier MO.

Eur Radiol. 2018 Feb;28(2):630-641. doi: 10.1007/s00330-017-5001-y. Epub 2017 Aug 23.

PMID:
28836026
41.

Usefulness of cocaine drops in investigating infant anisocoria.

Martin GC, Aymard PA, Denier C, Seghir C, Abitbol M, Boddaert N, Bremond-Gignac D, Robert MP.

Eur J Paediatr Neurol. 2017 Nov;21(6):852-857. doi: 10.1016/j.ejpn.2017.07.020. Epub 2017 Aug 4.

PMID:
28807373
42.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

43.

Abnormal Interhemispheric Synchrony in Neonatal Hypoxic-Ischemic Encephalopathy: A Retrospective Pilot Study.

Leroy-Terquem E, Vermersch AI, Dean P, Assaf Z, Boddaert N, Lapillonne A, Magny JF.

Neonatology. 2017;112(4):359-364. doi: 10.1159/000478964. Epub 2017 Aug 11.

PMID:
28796992
44.

Neuroimaging evidence of brain abnormalities in mastocytosis.

Boddaert N, Salvador A, Chandesris MO, Lemaître H, Grévent D, Gauthier C, Naggara O, Georgin-Lavialle S, Moura DS, Munsch F, Jaafari N, Zilbovicius M, Lortholary O, Gaillard R, Hermine O.

Transl Psychiatry. 2017 Aug 8;7(8):e1197. doi: 10.1038/tp.2017.137.

45.

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. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Erratum in: Am J Hum Genet. 2018 Apr 5;102(4):713.

46.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P.

Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27.

47.

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Dangouloff-Ros V, Hadj-Rabia S, Oliveira Santos J, Bal E, Desguerre I, Kossorotoff M, An I, Smahi A, Bodemer C, Munnich A, Steffann J, Boddaert N.

Mol Genet Metab. 2017 Nov;122(3):140-144. doi: 10.1016/j.ymgme.2017.07.001. Epub 2017 Jul 10.

PMID:
28711407
48.

Dynamic contrast enhanced MRI of the placenta: A tool for prenatal diagnosis of placenta accreta?

Millischer AE, Deloison B, Silvera S, Ville Y, Boddaert N, Balvay D, Siauve N, Cuenod CA, Tsatsaris V, Sentilhes L, Salomon LJ.

Placenta. 2017 May;53:40-47. doi: 10.1016/j.placenta.2017.03.006. Epub 2017 Mar 10.

PMID:
28487019
49.

Erratum to: Neuropsychological improvement after posterior fossa arachnoid cyst drainage.

Cuny ML, Pallone M, Piana H, Boddaert N, Sainte-Rose C, Vaivre-Douret L, Piolino P, Puget S.

Childs Nerv Syst. 2017 Jun;33(6):1023. doi: 10.1007/s00381-017-3368-3. No abstract available.

PMID:
28424875
50.

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Santoro C, Di Rocco F, Kossorotoff M, Zerah M, Boddaert N, Calmon R, Vidaud D, Cirillo M, Cinalli G, Mirone G, Giugliano T, Piluso G, D'Amico A, Capra V, Pavanello M, Cama A, Nobili B, Lyonnet S, Perrotta S.

Am J Med Genet A. 2017 Jun;173(6):1521-1530. doi: 10.1002/ajmg.a.38212. Epub 2017 Apr 19.

PMID:
28422438

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