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Items: 11

1.

Novel CASK mutations in cases with syndromic microcephaly.

Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR.

Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11.

PMID:
29691940
2.

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.

Cristofoli F, De Keersmaecker B, De Catte L, Vermeesch JR, Van Esch H.

Mol Syndromol. 2017 Nov;8(6):282-293. doi: 10.1159/000479666. Epub 2017 Sep 27.

3.

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates.

Liang C, Kerr A, Qiu Y, Cristofoli F, Van Esch H, Fox MA, Mukherjee K.

Invest Ophthalmol Vis Sci. 2017 Oct 1;58(12):5485-5496. doi: 10.1167/iovs.17-22399. Erratum in: Invest Ophthalmol Vis Sci. 2017 Nov 1;58(13):5841.

4.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC.

Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17.

PMID:
27311832
5.

Polymerase specific error rates and profiles identified by single molecule sequencing.

Hestand MS, Van Houdt J, Cristofoli F, Vermeesch JR.

Mutat Res. 2016 Feb-Mar;784-785:39-45. doi: 10.1016/j.mrfmmm.2016.01.003. Epub 2016 Jan 19.

PMID:
26829216
6.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H.

Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.

7.

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.

Poelmans S, Kawamoto T, Cristofoli F, Politis C, Vermeesch J, Bailleul-Forestier I, Hens G, Devriendt K, Verdonck A, Carels C.

Am J Med Genet A. 2015 Oct;167A(10):2451-8. doi: 10.1002/ajmg.a.37207. Epub 2015 Jun 16.

PMID:
26080100
8.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M.

Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4.

9.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE.

Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24.

10.

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A.

Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22.

PMID:
25249037
11.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

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