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Year Number of Results
2009 1
2011 1
2014 1
2016 2
2018 2
2019 6
2020 3
2021 2
2024 0

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17 results

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Page 1
International Triadin Knockout Syndrome Registry.
Clemens DJ, Tester DJ, Giudicessi JR, Bos JM, Rohatgi RK, Abrams DJ, Balaji S, Crotti L, Faure J, Napolitano C, Priori SG, Probst V, Rooryck-Thambo C, Roux-Buisson N, Sacher F, Schwartz PJ, Silka MJ, Walsh MA, Ackerman MJ. Clemens DJ, et al. Among authors: rooryck thambo c. Circ Genom Precis Med. 2019 Feb;12(2):e002419. doi: 10.1161/CIRCGEN.118.002419. Circ Genom Precis Med. 2019. PMID: 30649896 Free article.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.
Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, Delrue MA, Arveiler B, Lacombe D, Bouvard MP. Galéra C, et al. Among authors: rooryck thambo c. J Autism Dev Disord. 2009 Sep;39(9):1252-60. doi: 10.1007/s10803-009-0733-4. Epub 2009 Apr 7. J Autism Dev Disord. 2009. PMID: 19350377
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V. Curie A, et al. Among authors: rooryck thambo c. Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25. Orphanet J Rare Dis. 2014. PMID: 24528893 Free PMC article.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. Ader F, et al. Among authors: rooryck thambo c. Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18. Clin Genet. 2019. PMID: 31245841
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabières C, Guissart C. Cayrefourcq L, et al. Among authors: rooryck thambo c. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9. Sci Rep. 2020. PMID: 32555262 Free PMC article.
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Cárdenas-de-la-Parra A, Martin-Brevet S, Moreau C, Rodriguez-Herreros B, Fonov VS, Maillard AM, Zürcher NR; 16p11.2 European Consortium; Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S, Collins DL. Cárdenas-de-la-Parra A, et al. Neuroimage. 2019 Dec;203:116155. doi: 10.1016/j.neuroimage.2019.116155. Epub 2019 Sep 5. Neuroimage. 2019. PMID: 31494251 Free article.
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Bordet C, Brice S, Maupain C, Gandjbakhch E, Isidor B, Palmyre A, Moerman A, Toutain A, Akloul L, Brehin AC, Sawka C, Rooryck-Thambo C, Schaefer E, Nguyen K, Dupin Deguine D, Rouzier C, Billy G, Séné K, Denjoy I, Leheup B, Planes M, Mazzella JM, Staraci S, Hebert M, Le Boette E, Michon CC, Babonneau ML, Curjol A, Bekhechi A, Mansouri R, Raji I, Pruny JF, Fressart V, Ader F, Richard P, Tezenas du Montcel S, Gargiulo M, Charron P. Bordet C, et al. Among authors: rooryck thambo c. J Clin Med. 2020 May 6;9(5):1365. doi: 10.3390/jcm9051365. J Clin Med. 2020. PMID: 32384747 Free PMC article.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Liu H, Giguet-Valard AG, Simonet T, Szenker-Ravi E, Lambert L, Vincent-Delorme C, Scheidecker S, Fradin M, Morice-Picard F, Naudion S, Ciorna-Monferrato V, Colin E, Fellmann F, Blesson S, Jouk PS, Francannet C, Petit F, Moutton S, Lehalle D, Chassaing N, El Zein L, Bazin A, Bénéteau C, Attié-Bitach T, Hanu SM, Brechard MP, Chiesa J, Pasquier L, Rooryck-Thambo C, Van Maldergem L, Cabrol C, El Chehadeh S, Vasiljevic A, Isidor B, Abel C, Thevenon J, Di Filippo S, Vigouroux-Castera A, Attia J, Quelin C, Odent S, Piard J, Giuliano F, Putoux A, Khau Van Kien P, Yardin C, Touraine R, Reversade B, Bouvagnet P. Liu H, et al. Among authors: rooryck thambo c. Hum Mutat. 2020 Dec;41(12):2167-2178. doi: 10.1002/humu.24132. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 33131162
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. Among authors: rooryck thambo c. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
17 results