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Items: 1 to 20 of 27

1.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

PMID:
30351409
2.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Oct 2. doi: 10.1038/s41436-018-0327-7. [Epub ahead of print]

PMID:
30279470
3.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Sep 12. doi: 10.1038/s41436-018-0268-1. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 2;:.

PMID:
30206421
4.

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

Soblet J, Dimov I, Graf von Kalckreuth C, Cano-Chervel J, Baijot S, Pelc K, Sottiaux M, Vilain C, Smits G, Deconinck N.

Am J Med Genet A. 2018 Jan;176(1):201-208. doi: 10.1002/ajmg.a.38479. Epub 2017 Sep 27.

5.

Understanding mutational effects in digenic diseases.

Gazzo A, Raimondi D, Daneels D, Moreau Y, Smits G, Van Dooren S, Lenaerts T.

Nucleic Acids Res. 2017 Sep 6;45(15):e140. doi: 10.1093/nar/gkx557.

6.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G.

Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.

7.

NOVOPlasty: de novo assembly of organelle genomes from whole genome data.

Dierckxsens N, Mardulyn P, Smits G.

Nucleic Acids Res. 2017 Feb 28;45(4):e18. doi: 10.1093/nar/gkw955.

8.

DIDA: A curated and annotated digenic diseases database.

Gazzo AM, Daneels D, Cilia E, Bonduelle M, Abramowicz M, Van Dooren S, Smits G, Lenaerts T.

Nucleic Acids Res. 2016 Jan 4;44(D1):D900-7. doi: 10.1093/nar/gkv1068. Epub 2015 Oct 19.

9.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K.

Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Review.

PMID:
24534801
10.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.

J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.

11.

The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r.

Keniry A, Oxley D, Monnier P, Kyba M, Dandolo L, Smits G, Reik W.

Nat Cell Biol. 2012 Jun 10;14(7):659-65. doi: 10.1038/ncb2521.

12.

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

Daelemans C, Ritchie ME, Smits G, Abu-Amero S, Sudbery IM, Forrest MS, Campino S, Clark TG, Stanier P, Kwiatkowski D, Deloukas P, Dermitzakis ET, Tavaré S, Moore GE, Dunham I.

BMC Genet. 2010 Apr 19;11:25. doi: 10.1186/1471-2156-11-25.

13.

Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians.

Smits G, Mungall AJ, Griffiths-Jones S, Smith P, Beury D, Matthews L, Rogers J, Pask AJ, Shaw G, VandeBerg JL, McCarrey JR; SAVOIR Consortium, Renfree MB, Reik W, Dunham I.

Nat Genet. 2008 Aug;40(8):971-6. doi: 10.1038/ng.168. Epub 2008 Jun 29.

PMID:
18587395
14.

Non-coding transcripts in the H19 imprinting control region mediate gene silencing in transgenic Drosophila.

Schoenfelder S, Smits G, Fraser P, Reik W, Paro R.

EMBO Rep. 2007 Nov;8(11):1068-73. Epub 2007 Oct 19.

15.

Imprinting weaves its web.

Smits G, Kelsey G.

Dev Cell. 2006 Nov;11(5):598-9.

16.

Genetic predictors of ovarian hyperstimulation syndrome in women undergoing in vitro fertilization.

Delbaere A, Smits G, Vassart G, Costagliola S.

Nat Clin Pract Endocrinol Metab. 2006 Nov;2(11):590-1. No abstract available.

PMID:
17082800
17.

Understanding ovarian hyperstimulation syndrome.

Delbaere A, Smits G, De Leener A, Costagliola S, Vassart G.

Endocrine. 2005 Apr;26(3):285-90. Review.

PMID:
16034183
18.

Premature ovarian aging in mice deficient for Gpr3.

Ledent C, Demeestere I, Blum D, Petermans J, Hämäläinen T, Smits G, Vassart G.

Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8922-6. Epub 2005 Jun 13.

19.

Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity.

Urizar E, Montanelli L, Loy T, Bonomi M, Swillens S, Gales C, Bouvier M, Smits G, Vassart G, Costagliola S.

EMBO J. 2005 Jun 1;24(11):1954-64. Epub 2005 May 12.

20.

Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism.

Daelemans C, Smits G, de Maertelaer V, Costagliola S, Englert Y, Vassart G, Delbaere A.

J Clin Endocrinol Metab. 2004 Dec;89(12):6310-5.

PMID:
15579795

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