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Results: 18

1.

NRAS Mutations in Noonan Syndrome.

Denayer E, Peeters H, Sevenants L, Derbent M, Fryns JP, Legius E.

Mol Syndromol. 2012 Jun;3(1):34-38. Epub 2012 May 3.

2.

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E.

Eur J Hum Genet. 2012 Jun;20(6):618-25. doi: 10.1038/ejhg.2011.275. Epub 2012 Jan 18.

3.

Observations on intelligence and behavior in 15 patients with Legius syndrome.

Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):123-8. doi: 10.1002/ajmg.c.30297. Epub 2011 Apr 14.

4.

Legius syndrome in fourteen families.

Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E.

Hum Mutat. 2011 Jan;32(1):E1985-98. doi: 10.1002/humu.21404.

5.

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.

Leventopoulos G, Denayer E, Makrythanasis P, Papapolychroniou C, Fryssira H.

Clin Exp Rheumatol. 2010 Jul-Aug;28(4):556-7. Epub 2010 Aug 30.

PMID:
20810036
6.

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML.

Eur J Med Genet. 2010 May-Jun;53(3):117-21. doi: 10.1016/j.ejmg.2010.03.001. Epub 2010 Mar 17.

PMID:
20302979
7.

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E.

Genes Chromosomes Cancer. 2010 Mar;49(3):242-52. doi: 10.1002/gcc.20735.

PMID:
19953625
8.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.

JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
9.

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E.

BMC Med Genet. 2009 Sep 22;10:97. doi: 10.1186/1471-2350-10-97.

10.

A preliminary report on the efficacy of the Multicare AR-Bed in 3-week-3-month-old infants on regurgitation, associated symptoms and acid reflux.

Vandenplas Y, De Schepper J, Verheyden S, Devreker T, Franckx J, Peelman M, Denayer E, Hauser B.

Arch Dis Child. 2010 Jan;95(1):26-30. doi: 10.1136/adc.2008.156497. Epub 2009 Aug 20.

PMID:
19700421
11.

Spred1 is required for synaptic plasticity and hippocampus-dependent learning.

Denayer E, Ahmed T, Brems H, Van Woerden G, Borgesius NZ, Callaerts-Vegh Z, Yoshimura A, Hartmann D, Elgersma Y, D'Hooge R, Legius E, Balschun D.

J Neurosci. 2008 Dec 31;28(53):14443-9. doi: 10.1523/JNEUROSCI.4698-08.2008.

12.

Osteopathy may decrease obstructive apnea in infants: a pilot study.

Vandenplas Y, Denayer E, Vandenbossche T, Vermet L, Hauser B, Deschepper J, Engelen A.

Osteopath Med Prim Care. 2008 Jul 19;2:8. doi: 10.1186/1750-4732-2-8.

13.

Clinical and molecular aspects of RAS related disorders.

Denayer E, de Ravel T, Legius E.

J Med Genet. 2008 Nov;45(11):695-703. doi: 10.1136/jmg.2007.055772. Epub 2008 Jun 11. Review.

PMID:
18550698
14.

The cardiofaciocutaneous syndrome: prenatal findings in two patients.

Witters I, Denayer E, Brems H, Fryns JP, Legius E.

Prenat Diagn. 2008 Jan;28(1):53-5. No abstract available.

PMID:
18022830
15.

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Denayer E, Parret A, Chmara M, Schubbert S, Vogels A, Devriendt K, Frijns JP, Rybin V, de Ravel TJ, Shannon K, Cools J, Scheffzek K, Legius E.

Hum Mutat. 2008 Feb;29(2):232-9.

PMID:
17979197
16.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.

Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.

PMID:
17704776
17.

What's new in the neuro-cardio-facial-cutaneous syndromes?

Denayer E, Legius E.

Eur J Pediatr. 2007 Nov;166(11):1091-8. Epub 2007 Jul 5. Review.

PMID:
17611774
18.

Sleep apnoea in babies born after in vitro fertilization.

Audiens H, Denayer E, Ahlenajafie N, Troch E, Bonduelle M, Ramet J, Vandenplas Y.

Eur J Pediatr. 1995 Jun;154(6):454-7.

PMID:
7671942
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