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Items: 1 to 50 of 234

1.

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A.

Mol Genet Metab Rep. 2019 Oct 23;21:100522. doi: 10.1016/j.ymgmr.2019.100522. eCollection 2019 Dec. No abstract available.

2.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B.

Hum Mutat. 2019 Nov 3. doi: 10.1002/humu.23937. [Epub ahead of print]

PMID:
31680380
3.

Expanding the clinical spectrum of MTTF mutations.

Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A.

Mol Genet Metab Rep. 2019 Aug 13;21:100501. doi: 10.1016/j.ymgmr.2019.100501. eCollection 2019 Dec.

4.

Cortical Neurogenesis Requires Bcl6-Mediated Transcriptional Repression of Multiple Self-Renewal-Promoting Extrinsic Pathways.

Bonnefont J, Tiberi L, van den Ameele J, Potier D, Gaber ZB, Lin X, Bilheu A, Herpoel A, Velez Bravo FD, Guillemot F, Aerts S, Vanderhaeghen P.

Neuron. 2019 Sep 25;103(6):1096-1108.e4. doi: 10.1016/j.neuron.2019.06.027. Epub 2019 Jul 25.

5.

Clinical utility gene card: for incontinentia pigmenti.

Fusco F, Pescatore A, Steffann J, Bonnefont JP, De Oliveira J, Lioi MB, Ursini MV.

Eur J Hum Genet. 2019 Dec;27(12):1894-1900. doi: 10.1038/s41431-019-0463-9. Epub 2019 Jul 9. No abstract available.

PMID:
31289372
6.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19.

PMID:
31273809
7.

Searching for secondary findings: considering actionability and preserving the right not to know.

Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc PL, Bézieau S, Bieth E, Bonnefont JP, Munnich A, Bourdeaut F, Bourgain C, Chassaing N, Corradini N, Haye D, Plaisancie J, Dupin-Deguine D, Calvas P, Mignot C, Cogné B, Manouvrier S, Pasquier L, Héron D, Boycott KM, Turrini M, Vears DF, Nizon M, Vincent M.

Eur J Hum Genet. 2019 Oct;27(10):1481-1484. doi: 10.1038/s41431-019-0438-x. Epub 2019 Jun 11. Review. No abstract available.

PMID:
31186543
8.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Bacrot S, Monnot S, Haddad G, Barcia G, Rachid M, Boisson M, Pasquier N, Rondeau S, Munnich A, Steffann J, Bonnefont JP, Raynaud M.

Prenat Diagn. 2019 Apr;39(5):388-393. doi: 10.1002/pd.5439. Epub 2019 Apr 1.

PMID:
30779209
9.

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

Kuleva M, Ben Miled S, Steffann J, Bonnefont JP, Rondeau S, Ville Y, Munnich A, Salomon LJ.

BJOG. 2019 Oct;126(11):1372-1379. doi: 10.1111/1471-0528.15515. Epub 2019 Feb 7.

PMID:
30461153
10.

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S.

Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4.

PMID:
30298622
11.

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

Tomé S, Dandelot E, Dogan C, Bertrand A, Geneviève D, Péréon Y; DM contraction study group, Simon M, Bonnefont JP, Bassez G, Gourdon G.

Hum Mutat. 2018 Jul;39(7):970-982. doi: 10.1002/humu.23531. Epub 2018 May 19.

PMID:
29664219
12.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
13.

Pitfalls in molecular diagnosis of Friedreich ataxia.

Barcia G, Rachid M, Magen M, Assouline Z, Koenig M, Funalot B, Barnerias C, Rötig A, Munnich A, Bonnefont JP, Steffann J.

Eur J Med Genet. 2018 Aug;61(8):455-458. doi: 10.1016/j.ejmg.2018.03.004. Epub 2018 Mar 9.

PMID:
29530802
14.

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

Steffann J, Jouannet P, Bonnefont JP, Chneiweiss H, Frydman N.

Cell Stem Cell. 2018 Apr 5;22(4):481-482. doi: 10.1016/j.stem.2018.01.004. Epub 2018 Feb 8. No abstract available.

15.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V.

J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22.

PMID:
29358272
16.

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
17.

[Nuclear transfer to prevent transmission of mtDNA disorders: where are we?]

Steffann J, Bonnefont JP, Frydman N.

Med Sci (Paris). 2017 Jun-Jul;33(6-7):642-645. doi: 10.1051/medsci/20173306022. Epub 2017 Jul 19. Review. French.

18.

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

Weiss N, Mochel F, Rudler M, Demeret S, Lebray P, Conti F, Galanaud D, Ottolenghi C, Bonnefont JP, Dommergues M, Bernuau J, Thabut D.

J Hepatol. 2017 Sep 20. pii: S0168-8278(17)32289-4. doi: 10.1016/j.jhep.2017.09.009. [Epub ahead of print] Review.

PMID:
28939132
19.

Autism spectrum disorders in propionic acidemia patients.

de la Bâtie CD, Barbier V, Roda C, Brassier A, Arnoux JB, Valayannopoulos V, Guemann AS, Pontoizeau C, Gobin S, Habarou F, Lacaille F, Bonnefont JP, Canouï P, Ottolenghi C, De Lonlay P, Ouss L.

J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30.

PMID:
28856627
20.

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

Vachin P, Adda-Herzog E, Chalouhi G, Elie C, Rio M, Rondeau S, Gigarel N, Jabot Hanin F, Monnot S, Borghese R, Bengoa J, Ville Y, Rotig A, Munnich A, Bonnefont JP, Steffann J.

J Med Genet. 2018 Feb;55(2):131-136. doi: 10.1136/jmedgenet-2017-104615. Epub 2017 Jul 28.

PMID:
28754700
21.

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pescatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont JP, Ursini VM, Vabres P, Munnich A, Casanova JL, Bodemer C, Weil R, Agou F, Smahi A.

J Allergy Clin Immunol. 2017 Dec;140(6):1671-1682.e2. doi: 10.1016/j.jaci.2016.11.056. Epub 2017 Feb 27.

PMID:
28249776
22.

Hallmarks of Alzheimer's Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain.

Espuny-Camacho I, Arranz AM, Fiers M, Snellinx A, Ando K, Munck S, Bonnefont J, Lambot L, Corthout N, Omodho L, Vanden Eynden E, Radaelli E, Tesseur I, Wray S, Ebneth A, Hardy J, Leroy K, Brion JP, Vanderhaeghen P, De Strooper B.

Neuron. 2017 Mar 8;93(5):1066-1081.e8. doi: 10.1016/j.neuron.2017.02.001. Epub 2017 Feb 23.

23.

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Estève E, Krug P, Hummel A, Arnoux JB, Boyer O, Brassier A, de Lonlay P, Vuiblet V, Gobin S, Salomon R, Piètrement C, Bonnefont JP, Servais A, Galmiche L.

Hum Pathol. 2017 Apr;62:160-169. doi: 10.1016/j.humpath.2016.12.021. Epub 2017 Jan 11.

PMID:
28087478
24.

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Steffann J, Pouliet A, Adjal H, Bole C, Fourrage C, Martinovic J, Rolland-Galmiche L, Rotig A, Tores F, Munnich A, Bonnefont JP.

J Med Genet. 2017 May;54(5):324-329. doi: 10.1136/jmedgenet-2016-104335. Epub 2017 Jan 9.

PMID:
28069933
25.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.

Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P.

Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8.

26.

Pattern dystrophy in a female carrier of RP2 mutation.

Misky D, Guillaumie T, Baudoin C, Bocquet B, Beltran M, Kaplan J, Dhaenens CM, Bonnefont JP, Meunier I, Hamel CP.

Ophthalmic Genet. 2016 Dec;37(4):453-455. Epub 2016 Feb 17. No abstract available.

PMID:
26885761
27.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

Auger J, Baptiste A, Benabbad I, Thierry G, Costa JM, Amouyal M, Kottler ML, Leheup B, Touraine R, Schmitt S, Lebrun M, Cormier Daire V, Bonnefont JP, de Roux N, Elie C, Rosilio M.

Horm Res Paediatr. 2016;86(5):309-318. doi: 10.1159/000448282. Epub 2016 Sep 28.

PMID:
27676402
28.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S.

Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Review.

PMID:
27650058
29.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V.

Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3.

30.

Cervical trophoblasts for non-invasive single-cell genotyping and prenatal diagnosis.

Pfeifer I, Benachi A, Saker A, Bonnefont JP, Mouawia H, Broncy L, Frydman R, Brival ML, Lacour B, Dachez R, Paterlini-Bréchot P.

Placenta. 2016 Jan;37:56-60. doi: 10.1016/j.placenta.2015.11.002. Epub 2015 Nov 11.

PMID:
26680636
31.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

Philippe A, Craus Y, Rio M, Bahi-Buisson N, Boddaert N, Malan V, Bonnefont JP, Robel L.

BMC Psychiatry. 2015 Oct 21;15:256. doi: 10.1186/s12888-015-0631-6.

32.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
33.

Unique subungueal keratoacanthoma revealing incontinentia pigmenti.

Ferneiny M, Hadj-Rabia S, Regnier S, Ortonne N, Smahi A, Steffann J, Bonnefont JP, Fraitag S, Chosidow O, Bodemer C.

J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1401-3. doi: 10.1111/jdv.13245. Epub 2015 Sep 21. No abstract available.

PMID:
26387562
34.

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.

Leclerc-Mercier S, Dufernez F, Fraitag S, Coulombe J, Dompmartin A, Barreau M, Bozon D, Lamazière A, Bonnefont JP, Khalifa E, Bodemer C, Hadj-Rabia S.

Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5. No abstract available.

PMID:
26075358
35.

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V.

Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27.

PMID:
26024641
36.

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont JP, Ottolenghi C, De Lonlay P.

Orphanet J Rare Dis. 2015 May 10;10:58. doi: 10.1186/s13023-015-0266-1.

37.

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.

Thevenon J, Michot C, Bole C, Nitschke P, Nizon M, Faivre L, Munnich A, Lyonnet S, Bonnefont JP, Portes VD, Amiel J.

Am J Med Genet A. 2015 Aug;167A(8):1908-12. doi: 10.1002/ajmg.a.37094. Epub 2015 Apr 6.

PMID:
25846674
38.

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.

Steffann J, Monnot S, Bonnefont JP.

Clin Genet. 2015 Nov;88(5):416-24. doi: 10.1111/cge.12557. Epub 2015 Feb 3. Review.

PMID:
25523230
39.

A BCL6/BCOR/SIRT1 complex triggers neurogenesis and suppresses medulloblastoma by repressing Sonic Hedgehog signaling.

Tiberi L, Bonnefont J, van den Ameele J, Le Bon SD, Herpoel A, Bilheu A, Baron BW, Vanderhaeghen P.

Cancer Cell. 2014 Dec 8;26(6):797-812. doi: 10.1016/j.ccell.2014.10.021. Erratum in: Cancer Cell. 2015 Feb 9;27(2):312-3.

40.

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Habarou F, Brassier A, Rio M, Chrétien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P.

Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar.

41.

Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?

Bastin J, Bonnefont JP, Djouadi F, Bresson JL.

J Inherit Metab Dis. 2015 Mar;38(2):371-2. doi: 10.1007/s10545-014-9775-7. Epub 2014 Oct 14. No abstract available.

PMID:
25310995
42.

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

Steffann J, Gigarel N, Samuels DC, Monnot S, Borghese R, Hesters L, Frydman N, Burlet P, Frydman R, Benachi A, Rotig A, Munnich A, Bonnefont JP.

Cell Rep. 2014 May 22;7(4):933-4. doi: 10.1016/j.celrep.2014.05.005. No abstract available.

43.

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.

Al Marzouqi F, Michot C, Dos Santos S, Bonnefont JP, Bodemer C, Hadj-Rabia S.

Br J Dermatol. 2014 Sep;171(3):671-3. doi: 10.1111/bjd.13023. Epub 2014 Aug 11. No abstract available.

PMID:
24689965
44.

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV.

Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12.

PMID:
24339369
45.

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A.

Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.

PMID:
24142340
46.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P.

Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148.

47.

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

Steffann J, Michot C, Borghese R, Baptista-Fernandes M, Monnot S, Bonnefont JP, Munnich A.

Eur J Hum Genet. 2014 May;22(5):711-2. doi: 10.1038/ejhg.2013.164. Epub 2013 Sep 11.

48.

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Philippe A, Malan V, Jacquemont ML, Boddaert N, Bonnefont JP, Odent S, Munnich A, Colleaux L, Cormier-Daire V.

Am J Med Genet A. 2013 Jun;161A(6):1370-5. doi: 10.1002/ajmg.a.35307. Epub 2013 May 1.

PMID:
23637084
49.

Pyramidal neurons derived from human pluripotent stem cells integrate efficiently into mouse brain circuits in vivo.

Espuny-Camacho I, Michelsen KA, Gall D, Linaro D, Hasche A, Bonnefont J, Bali C, Orduz D, Bilheu A, Herpoel A, Lambert N, Gaspard N, Péron S, Schiffmann SN, Giugliano M, Gaillard A, Vanderhaeghen P.

Neuron. 2013 Feb 6;77(3):440-56. doi: 10.1016/j.neuron.2012.12.011.

50.

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J.

Hum Mol Genet. 2013 May 1;22(9):1867-72. doi: 10.1093/hmg/ddt040. Epub 2013 Feb 5.

PMID:
23390135

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