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Items: 29

1.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C.

Eur J Med Genet. 2018 Aug 22. pii: S1769-7212(18)30335-5. doi: 10.1016/j.ejmg.2018.08.011. [Epub ahead of print]

PMID:
30142438
2.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

PMID:
30057029
3.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G.

Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.

PMID:
29859719
4.

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d'Enghien CD, Laugé A, Chemlali W, Raynal V, Labbé M, Bièche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I; CoF-AT; GENESIS; kConFab, Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F.

Breast Cancer Res. 2018 Apr 17;20(1):28. doi: 10.1186/s13058-018-0951-9.

5.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C.

Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2. No abstract available.

PMID:
29498412
6.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L.

Clin Genet. 2018 Jun;93(6):1172-1178. doi: 10.1111/cge.13243. Epub 2018 Apr 14.

PMID:
29460436
7.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
8.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S.

Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28.

PMID:
29184170
9.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27.

PMID:
29178447
10.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L.

Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12.

PMID:
28807864
11.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B.

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

12.

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G.

Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9. No abstract available.

PMID:
28489313
13.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D.

Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18.

14.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L.

J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24.

PMID:
28119487
15.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

16.

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

Morice-Picard F, Benard G, Rezvani HR, Lasseaux E, Simon D, Moutton S, Rooryck C, Lacombe D, Baumann C, Arveiler B.

Eur J Hum Genet. 2016 Jan;25(1):52-58. doi: 10.1038/ejhg.2016.139. Epub 2016 Oct 19.

17.

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Cavallin M, Bijlsma EK, El Morjani A, Moutton S, Peeters EA, Maillard C, Pedespan JM, Guerrot AM, Drouin-Garaud V, Coubes C, Genevieve D, Bole-Feysot C, Fourrage C, Steffann J, Bahi-Buisson N.

Neurogenetics. 2017 Apr;18(2):73-79. doi: 10.1007/s10048-016-0499-8. Epub 2016 Oct 17.

PMID:
27747449
18.

Typical facial gestalt in X-linked Kabuki syndrome.

Margot H, Geneviève D, Gatinois V, Arveiler B, Moutton S, Touitou I, Lacombe D.

Am J Med Genet A. 2016 Dec;170(12):3363-3364. doi: 10.1002/ajmg.a.37864. Epub 2016 Aug 2. No abstract available.

PMID:
27481565
19.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I.

J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.

PMID:
27193221
20.

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L.

Clin Genet. 2016 May;89(5):630-5. doi: 10.1111/cge.12696. Epub 2016 Jan 4.

21.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L.

Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16.

22.

Fetal phenotypes in otopalatodigital spectrum disorders.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P.

Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29.

PMID:
26404489
23.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PMID:
26288984
24.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2016 Mar;24(3):455-8. doi: 10.1038/ejhg.2015.140. Epub 2015 Jul 8.

25.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Houcinat N, Llanas B, Moutton S, Toutain J, Cailley D, Arveiler B, Combe C, Lacombe D, Rooryck C.

Am J Med Genet A. 2015 Nov;167A(11):2714-9. doi: 10.1002/ajmg.a.37212. Epub 2015 Jun 26.

PMID:
26114937
26.

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C.

Parkinsonism Relat Disord. 2014 Aug;20(8):935-7. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9. No abstract available.

PMID:
24907184
27.

Mutation in TTI2 reveals a role for triple T complex in human brain development.

Langouët M, Saadi A, Rieunier G, Moutton S, Siquier-Pernet K, Fernet M, Nitschke P, Munnich A, Stern MH, Chaouch M, Colleaux L.

Hum Mutat. 2013 Nov;34(11):1472-6. doi: 10.1002/humu.22399. Epub 2013 Sep 10.

PMID:
23956177
28.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY.

Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24.

29.

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Moutton S, Rooryck C, Toutain J, Cailley D, Bouron J, Villega F, Taupiac E, Lacombe D, Arveiler B, Goizet C.

Eur J Med Genet. 2012 Feb;55(2):151-5. doi: 10.1016/j.ejmg.2011.12.009. Epub 2012 Jan 5.

PMID:
22274139

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