Burglen L - Search Results

1

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S. Brioude F, et al. Among authors: burglen l. Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26077438

2

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, Desguerre I, Munnich A, Dulac O. Cormier-Daire V, et al. Among authors: burglen l. Am J Hum Genet. 2000 Oct;67(4):991-3. doi: 10.1086/303087. Epub 2000 Sep 7. Am J Hum Genet. 2000. PMID: 10978228 Free PMC article.

3

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. Gaston V, et al. Among authors: burglen l. Eur J Hum Genet. 2001 Jun;9(6):409-18. doi: 10.1038/sj.ejhg.5200649. Eur J Hum Genet. 2001. PMID: 11436121

4

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: burglen l. Hum Mutat. 2001 Sep;18(3):251-2. doi: 10.1002/humu.1182. Hum Mutat. 2001. PMID: 11524737

5

Specific genetic disorders and autism: clinical contribution towards their identification.

Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E, Lazar G, Mazet P, Pinquier C, Verloes A, Héron D. Cohen D, et al. Among authors: burglen l. J Autism Dev Disord. 2005 Feb;35(1):103-16. doi: 10.1007/s10803-004-1038-2. J Autism Dev Disord. 2005. PMID: 15796126 Review.

6

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. Gicquel C, et al. Among authors: burglen l. Nat Genet. 2005 Sep;37(9):1003-7. doi: 10.1038/ng1629. Epub 2005 Aug 7. Nat Genet. 2005. PMID: 16086014

7

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Among authors: burglen l. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

8

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: burglen l. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729

9

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A. Bahi-Buisson N, et al. Among authors: burglen l. Epilepsia. 2008 Mar;49(3):509-15. doi: 10.1111/j.1528-1167.2007.01424.x. Epub 2007 Nov 21. Epilepsia. 2008. PMID: 18031548 Free article.

10

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: burglen l. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472

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