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Items: 1 to 50 of 573

1.

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases.

Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Nabbout R.

Front Neurol. 2019 Nov 13;10:1182. doi: 10.3389/fneur.2019.01182. eCollection 2019.

2.

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.

Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC.

Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. eCollection 2019.

3.

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.

Jourdan-Voyen L, Touraine R, Masutti JP, Busa T, Vincent-Delorme C, Dreyfus L, Molin A, Savey B, Mounzer A, Assaf Z, Atallah V, da Cruz V, Gaillard D, Leroy-Terquem E, Mouton JB, Ghoumid J, Picaud JC, Dijoud F, Bouquillon S, Baumann C, Lambert L.

Arch Dis Child Fetal Neonatal Ed. 2019 Oct 22. pii: fetalneonatal-2019-317121. doi: 10.1136/archdischild-2019-317121. [Epub ahead of print]

PMID:
31641027
4.

Arthritis associated to cardio-facio-cutaneous syndrome related to a MAP2K1 mutation.

Bochet P, Ramond F, Touraine R, Thomas T, Marotte H.

Joint Bone Spine. 2019 Sep 27. pii: S1297-319X(19)30144-7. doi: 10.1016/j.jbspin.2019.09.014. [Epub ahead of print] No abstract available.

PMID:
31568837
5.

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC.

Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019.

6.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group.

Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13.

PMID:
31410843
7.

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC.

Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019.

8.

A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.

Abdelwahed M, Touraine R, Ben-Rhouma B, Dhieb D, Mars M, Kammoun K, Hachicha J, Triki C, Kamoun H, Keskes-Ammar L, Belguith N.

IUBMB Life. 2019 Dec;71(12):1937-1945. doi: 10.1002/iub.2134. Epub 2019 Jul 18.

PMID:
31317616
9.

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
10.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Masson J, Demily C, Chatron N, Labalme A, Rollat-Farnier PA, Schluth-Bolard C, Gilbert-Dussardier B, Giuliano F, Touraine R, Tordjman S, Verloes A, Testa G, Sanlaville D, Edery P, Lesca G, Rossi M.

Orphanet J Rare Dis. 2019 May 31;14(1):121. doi: 10.1186/s13023-019-1094-5.

11.

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.

Bar C, Ghobeira R, Azzi R, Ville D, Riquet A, Touraine R, Chemaly N, Nabbout R.

Epilepsy Behav. 2019 Jul;96:23-27. doi: 10.1016/j.yebeh.2019.04.027. Epub 2019 May 9.

PMID:
31077938
12.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.

PMID:
30923172
13.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators.

Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar.

14.

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

Poreau B, Ramond F, Harbuz R, Satre V, Barro C, Vettier C, Adouard V, Thevenon J, Jouk PS, Coutton C, Touraine R, Dieterich K.

Am J Med Genet A. 2019 Apr;179(4):650-654. doi: 10.1002/ajmg.a.61057. Epub 2019 Feb 8.

PMID:
30737907
15.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8.

16.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC.

Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063.

17.

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
18.

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.

Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.

19.

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood.

Gousse G, Patural H, Touraine R, Chabrier S, Rolland E, Antoine JC, Perrin L.

Arch Pediatr. 2018 Jan;25(1):42-44. doi: 10.1016/j.arcped.2017.09.029. Epub 2017 Dec 13.

PMID:
29248324
20.

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

Chatron N, Thibault L, Lespinasse J, Labalme A, Schluth-Bolard C, Till M, Edery P, Touraine R, des Portes V, Lesca G, Sanlaville D.

Mol Syndromol. 2017 Nov;8(6):325-330. doi: 10.1159/000479455. Epub 2017 Sep 7.

21.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux AF.

Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9.

22.

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
23.

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Venet T, Masson E, Talbotec C, Billiemaz K, Touraine R, Gay C, Destombe S, Cooper DN, Patural H, Chen JM, Férec C.

Hum Mutat. 2017 Dec;38(12):1660-1665. doi: 10.1002/humu.23343. Epub 2017 Oct 12.

PMID:
28945313
24.

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Busa T, Jeraiby M, Clémenson A, Manouvrier S, Granados V, Philip N, Touraine R.

Am J Med Genet A. 2017 Nov;173(11):3114-3117. doi: 10.1002/ajmg.a.38475. Epub 2017 Sep 21.

PMID:
28940926
25.

Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.

Rofail D, Froggatt D, de la Torre R, Edgin J, Kishnani P, Touraine R, Whitwham S, Squassante L, Khwaja O, D'Ardhuy XL.

Adv Ther. 2017 Aug;34(8):2058-2069. doi: 10.1007/s12325-017-0591-y. Epub 2017 Aug 9.

PMID:
28795347
26.

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H.

Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27.

PMID:
28748650
27.

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

Ramond F, Duband S, Croisille P, Cavé H, Teyssier G, Adouard V, Touraine R.

Eur J Med Genet. 2017 Jun;60(6):299-302. doi: 10.1016/j.ejmg.2017.03.009. Epub 2017 Mar 25.

PMID:
28347726
28.

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.

Rossi M, Vasiljevic A, Labalme A, Dijoud F, Mallet-Motak D, Petcu CA, Touraine R, Vianey-Saban C, Guibaud L, Edery P, Sanlaville D, Morel Y.

Am J Med Genet A. 2017 Mar;173(3):654-660. doi: 10.1002/ajmg.a.38093. Epub 2017 Feb 4.

PMID:
28160395
29.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB.

Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2.

PMID:
28151489
30.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators.

Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5.

31.

[The complex phenotype of ARC syndrome: A new case].

Giraud A, Ramond F, Cremillieux C, Touraine R, Patural H, Stephan JL.

Arch Pediatr. 2017 Feb;24(2):131-134. doi: 10.1016/j.arcped.2016.11.004. Epub 2016 Dec 20. French.

PMID:
28007512
32.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, Desguerre I, Flurin V, Grebille AG, Guerrot AM, Journel H, Morin G, Plessis G, Renolleau S, Roume J, Simon-Bouy B, Touraine R, Willems M, Frébourg T, Verspyck E, Saugier-Veber P.

J Neuromuscul Dis. 2016 Nov 29;3(4):487-495.

PMID:
27911332
33.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
34.

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Gonnaud L, Alves MM, Cremillieux C, Billiemaz K, Destombe S, Varlet F, Lopez M, Trapes L, Touraine R, Hofstra RM, Patural H.

Clin Res Hepatol Gastroenterol. 2016 Dec;40(6):e65-e67. doi: 10.1016/j.clinre.2015.12.018. Epub 2016 Oct 4.

PMID:
27720179
35.

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
36.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC.

Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20.

PMID:
27648933
37.

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G.

Clin Genet. 2017 Jan;91(1):126-130. doi: 10.1111/cge.12780. Epub 2016 Apr 26.

PMID:
27030002
38.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

Curie A, Brun A, Cheylus A, Reboul A, Nazir T, Bussy G, Delange K, Paulignan Y, Mercier S, David A, Marignier S, Merle L, de Fréminville B, Prieur F, Till M, Mortemousque I, Toutain A, Bieth E, Touraine R, Sanlaville D, Chelly J, Kong J, Ott D, Kassai B, Hadjikhani N, Gollub RL, des Portes V.

PLoS One. 2016 Feb 26;11(2):e0149717. doi: 10.1371/journal.pone.0149717. eCollection 2016.

39.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

40.

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
41.

Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.

Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Grall-Lerosey M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V.

Arthritis Rheumatol. 2015 Nov;67(11):3027-36. doi: 10.1002/art.39292.

42.

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.

J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27.

PMID:
25721700
43.

Variability of the aging process in dementia-free adults with Down syndrome.

Tsao R, Kindelberger C, Fréminville B, Touraine R, Gerald Bussy.

Am J Intellect Dev Disabil. 2015 Jan;120(1):3-15. doi: 10.1352/1944-7558-120.1.3.

PMID:
25551263
44.

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G.

Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11.

PMID:
25497044
45.

Impact of genetic predisposition of de novo uveitis with etanercept in ankylosing spondylitis.

Killian M, Touraine R, Amouzougan A, Thomas T, Marotte H.

Ann Rheum Dis. 2015 Mar;74(3):e22. doi: 10.1136/annrheumdis-2014-206776. Epub 2014 Dec 2. No abstract available.

PMID:
25467296
46.

Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?

Aloui C, Sut C, Prigent A, Fagan J, Cognasse F, Granados-Herbepin V, Touraine R, Pozzetto B, Aouni M, Fendri C, Hassine M, Chakroun T, Jemni-Yacoub S, Garraud O, Laradi S.

Sci Rep. 2014 Nov 28;4:7239. doi: 10.1038/srep07239.

47.

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Nabbout R, Sauter M, Touraine R, O'Callaghan F, Zonnenberg B, Crippa S, Comis S, d'Augères GB, Belousova E, Carter T, Cottin V, Dahlin M, Ferreira JC, Macaya A, Benedik MP, Sander V, Youroukos S, Castellana R, Ulker B, Feucht M.

Orphanet J Rare Dis. 2014 Nov 26;9:182. doi: 10.1186/s13023-014-0182-9.

48.

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B.

Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2.

PMID:
25088311
49.

Mutations in SETD2 cause a novel overgrowth condition.

Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V.

J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22.

PMID:
24852293
50.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G.

Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547. Epub 2014 Apr 8.

PMID:
24715584

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