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Items: 1 to 50 of 305

1.

Archetype Analysis Identifies Distinct Profiles in Renal Transplant Recipients with Transplant Glomerulopathy Associated with Allograft Survival.

Aubert O, Higgins S, Bouatou Y, Yoo D, Raynaud M, Viglietti D, Rabant M, Hidalgo L, Glotz D, Legendre C, Delahousse M, Shah N, Sis B, Campbell P, Mengel M, Jouven X, Duong Van Huyen JP, Lefaucheur C, Loupy A.

J Am Soc Nephrol. 2019 Mar 14. pii: ASN.2018070777. doi: 10.1681/ASN.2018070777. [Epub ahead of print]

PMID:
30872323
2.

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 Feb 18. doi: 10.1002/pd.5439. [Epub ahead of print]

PMID:
30779209
3.

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.

Tastet J, Cuberos H, Vallée B, Toutain A, Raynaud M, Marouillat S, Thépault RA, Laumonnier F, Bonnet-Brilhault F, Vourc'h P, Andres CR, Bénédetti H.

Neuroscience. 2019 Feb 10;399:199-210. doi: 10.1016/j.neuroscience.2018.12.017. Epub 2018 Dec 27.

PMID:
30594563
4.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.

Hum Mutat. 2018 Dec;39(12):2110-2112. doi: 10.1002/humu.23612. Epub 2018 Sep 17. No abstract available.

PMID:
30447178
5.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.

Mol Psychiatry. 2018 May 4. doi: 10.1038/s41380-018-0065-x. [Epub ahead of print]

PMID:
29728705
6.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.

Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Erratum in: Hum Mutat. 2018 Dec;39(12):2110-2112.

PMID:
29637653
7.

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
8.

Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability.

Delaye JB, Patin F, Lagrue E, Le Tilly O, Bruno C, Vuillaume ML, Raynaud M, Benz-De Bretagne I, Laumonnier F, Vourc'h P, Andres C, Blasco H.

Ann Clin Biochem. 2018 Sep;55(5):543-552. doi: 10.1177/0004563218760351. Epub 2018 Feb 22.

PMID:
29388433
9.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM.

Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.

10.

Enhanced photoemission from laser-excited plasmonic nano-objects in periodic arrays.

Fedorov N, Geoffroy G, Duchateau G, Štolcová L, Proška J, Novotný F, Domonkos M, Jouin H, Martin P, Raynaud M.

J Phys Condens Matter. 2016 Aug 10;28(31):315301. doi: 10.1088/0953-8984/28/31/315301. Epub 2016 Jun 14.

PMID:
27299999
11.

Exocrine pancreatic insufficiency in a child with Netherton syndrome.

Machet P, Bodemer C, Lorette G, Fraitag S, Raynaud M, Willot S, Maruani A.

Eur J Dermatol. 2016 Jun 1;26(3):311-2. doi: 10.1684/ejd.2016.2761. No abstract available.

PMID:
26986028
12.

Electron Acceleration by Relativistic Surface Plasmons in Laser-Grating Interaction.

Fedeli L, Sgattoni A, Cantono G, Garzella D, Réau F, Prencipe I, Passoni M, Raynaud M, Květoň M, Proska J, Macchi A, Ceccotti T.

Phys Rev Lett. 2016 Jan 8;116(1):015001. doi: 10.1103/PhysRevLett.116.015001. Epub 2016 Jan 7.

PMID:
26799022
13.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J.

Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6.

PMID:
26443594
14.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J.

Am J Hum Genet. 2015 Aug 6;97(2):302-10. doi: 10.1016/j.ajhg.2015.05.021. Epub 2015 Jul 9.

15.

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.

Bonnet-Brilhault F, Alirol S, Blanc R, Bazaud S, Marouillat S, Thépault RA, Andres CR, Lemonnier É, Barthélémy C, Raynaud M, Toutain A, Gomot M, Laumonnier F.

Mol Psychiatry. 2016 Mar;21(3):411-8. doi: 10.1038/mp.2015.75. Epub 2015 Jun 9.

PMID:
26055424
16.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.

Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.

17.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A.

Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8.

PMID:
24715367
18.

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA.

Am J Hum Genet. 2014 Mar 6;94(3):470-8. doi: 10.1016/j.ajhg.2014.02.004.

19.

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.

Vanmarsenille L, Giannandrea M, Fieremans N, Verbeeck J, Belet S, Raynaud M, Vogels A, Männik K, Õunap K, Jacqueline V, Briault S, Van Esch H, D'Adamo P, Froyen G.

Hum Mutat. 2014 Mar;35(3):377-83.

PMID:
24357492
20.

Evidence of resonant surface-wave excitation in the relativistic regime through measurements of proton acceleration from grating targets.

Ceccotti T, Floquet V, Sgattoni A, Bigongiari A, Klimo O, Raynaud M, Riconda C, Heron A, Baffigi F, Labate L, Gizzi LA, Vassura L, Fuchs J, Passoni M, Květon M, Novotny F, Possolt M, Prokůpek J, Proška J, Pšikal J, Štolcová L, Velyhan A, Bougeard M, D'Oliveira P, Tcherbakoff O, Réau F, Martin P, Macchi A.

Phys Rev Lett. 2013 Nov 1;111(18):185001. Epub 2013 Oct 28.

PMID:
24237527
21.

Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.

Cottereau E, Moizard MP, David A, Raynaud M, Marmin N, Toutain A.

Am J Med Genet A. 2014 Jan;164A(1):282-4. doi: 10.1002/ajmg.a.36199. Epub 2013 Nov 8. No abstract available.

PMID:
24214682
22.

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J.

Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.

PMID:
24039113
23.

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families.

Huc-Chabrolle M, Charon C, Guilmatre A, Vourc'h P, Tripi G, Barthez MA, Sizaret E, Thepault RA, Le Gallic S, Hager J, Toutain A, Raynaud M, Andres C, Campion D, Laumonnier F, Bonnet-Brilhault F.

Behav Genet. 2013 Mar;43(2):132-40. doi: 10.1007/s10519-012-9575-5. Epub 2013 Jan 11.

PMID:
23307483
24.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I.

Eur J Hum Genet. 2013 Aug;21(8):855-63. doi: 10.1038/ejhg.2012.269. Epub 2013 Jan 9. Erratum in: Eur J Hum Genet. 2013 Aug;21(8):892.

25.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T.

Clin Genet. 2013 Jul;84(1):86-90. doi: 10.1111/cge.12013. Epub 2012 Oct 4. No abstract available.

PMID:
23036093
26.

Compression dewatering of municipal activated sludge: effects of salt and pH.

Raynaud M, Vaxelaire J, Olivier J, Dieudé-Fauvel E, Baudez JC.

Water Res. 2012 Sep 15;46(14):4448-56. doi: 10.1016/j.watres.2012.05.047. Epub 2012 Jun 9.

PMID:
22735341
27.

Base flow and stormwater net fluxes of carbon and trace metals to the Mediterranean sea by an urbanized small river.

Nicolau R, Lucas Y, Merdy P, Raynaud M.

Water Res. 2012 Dec 15;46(20):6625-37. doi: 10.1016/j.watres.2012.01.031. Epub 2012 Feb 1.

PMID:
22341832
28.

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

Ronce N, Maystadt I, Hubert C, Vonwill S, Devriendt K, Moizard MP, Raynaud M.

Clin Genet. 2012 Jul;82(1):93-6. doi: 10.1111/j.1399-0004.2011.01782.x. Epub 2011 Dec 30. No abstract available.

PMID:
22211847
29.

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, Suren S, Hahn CN, Gamble J, Wilkinson MF, Corbett MA, Gecz J.

Mol Psychiatry. 2012 Nov;17(11):1103-15. doi: 10.1038/mp.2011.163. Epub 2011 Dec 20.

30.

The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications.

Lallemand B, Clementy N, Bernard-Brunet A, Pierre B, Corcia P, Fauchier L, Raynaud M, Pellieux S, Babuty D.

Heart. 2012 Feb;98(4):291-6. doi: 10.1136/heartjnl-2011-300143. Epub 2011 Oct 29.

31.

Steady magnetic-field generation via surface-plasma-wave excitation.

Bigongiari A, Raynaud M, Riconda C.

Phys Rev E Stat Nonlin Soft Matter Phys. 2011 Jul;84(1 Pt 2):015402. Epub 2011 Jul 29.

PMID:
21867250
32.

Study of the spatial and historical distribution of sediment inorganic contamination in the Toulon bay (France).

Tessier E, Garnier C, Mullot JU, Lenoble V, Arnaud M, Raynaud M, Mounier S.

Mar Pollut Bull. 2011 Oct;62(10):2075-86. doi: 10.1016/j.marpolbul.2011.07.022. Epub 2011 Aug 23.

PMID:
21864863
33.

[When do you implant a pacemaker in myotonic dystrophy?].

Babuty D, Lallemand B, Laurent V, Clémenty N, Pierre B, Fauchier L, Raynaud M, Pellieux S.

Presse Med. 2011 Jul-Aug;40(7-8):748-53. doi: 10.1016/j.lpm.2011.01.029. Epub 2011 May 5. French.

PMID:
21549556
34.

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Ratbi I, Elalaoui SC, Moizard MP, Raynaud M, Sefiani A.

Turk J Pediatr. 2010 Sep-Oct;52(5):525-8.

PMID:
21434539
35.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW.

Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26.

36.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

Pagan C, Botros HG, Poirier K, Dumaine A, Jamain S, Moreno S, de Brouwer A, Van Esch H, Delorme R, Launay JM, Tzschach A, Kalscheuer V, Lacombe D, Briault S, Laumonnier F, Raynaud M, van Bon BW, Willemsen MH, Leboyer M, Chelly J, Bourgeron T.

BMC Med Genet. 2011 Jan 20;12:17. doi: 10.1186/1471-2350-12-17.

37.

A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.

Védrine SM, Vourc'h P, Tabagh R, Mignon L, Höfflin S, Cherpi-Antar C, Mbarek O, Paubel A, Moraine C, Raynaud M, Andres CR.

Neurosci Lett. 2011 Mar 17;491(2):118-21. doi: 10.1016/j.neulet.2011.01.019. Epub 2011 Jan 12.

PMID:
21236316
38.

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.

Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.

PMID:
21208200
39.

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W.

Hugo J. 2009 Dec;3(1-4):83. doi: 10.1007/s11568-010-9142-1. Epub 2010 Apr 11.

40.

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.

Clin Genet. 2010 Jun;77(6):541-51. doi: 10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19.

PMID:
20412111
41.

Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices.

Laurent V, Pellieux S, Corcia P, Magro P, Pierre B, Fauchier L, Raynaud M, Babuty D.

Int J Cardiol. 2011 Jul 1;150(1):54-8. doi: 10.1016/j.ijcard.2010.02.029. Epub 2010 Mar 12.

PMID:
20227121
42.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW.

Pathogenetics. 2010 Feb 2;3(1):2. doi: 10.1186/1755-8417-3-2.

43.

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P.

Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011.

44.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers H, Chen W.

Hugo J. 2009 Dec;3(1-4):41-9. doi: 10.1007/s11568-010-9137-y. Epub 2010 Mar 25.

45.

Phenotype and genotype in females with POU3F4 mutations.

Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A.

Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x.

PMID:
19930154
46.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR.

Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19.

47.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M.

Mol Psychiatry. 2010 Jul;15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24.

PMID:
19238151
48.

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