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Page 1
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. Lerat J, et al. Among authors: van maldergem l. Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Hum Mutat. 2016. PMID: 27650058 Review.
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M. Magré J, et al. Among authors: van maldergem l. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Diabetes. 2003. PMID: 12765973
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: van maldergem l, van de heyning p, van camp g. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Botzenhart EM, et al. Among authors: van maldergem l. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476. Hum Mutat. 2007. PMID: 17221874
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Among authors: van maldergem l, van hagen jm. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. Démurger F, et al. Among authors: van maldergem l. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736735 Free PMC article.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: van maldergem l. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. Coutelier M, et al. Among authors: van maldergem l. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, Hannequin P, Paternoster G, Baer S, Cabrol C, Weber E, Godfrin G, Lenoir M, Lacombe D, Collet C, Van Maldergem L. Brischoux-Boucher E, et al. Among authors: van maldergem l. Clin Genet. 2018 Oct;94(3-4):373-380. doi: 10.1111/cge.13409. Epub 2018 Jul 23. Clin Genet. 2018. PMID: 29926465
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: van maldergem l. Hum Mutat. 2020 Dec;41(12):2167-2178. doi: 10.1002/humu.24132. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 33131162
263 results