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Items: 1 to 50 of 99

1.

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study.

Morris JK, Wellesley DG, Barisic I, Addor MC, Bergman JEH, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker DF, Verellen-Dumoulin C, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Garne E.

Arch Dis Child. 2019 Jun 26. pii: archdischild-2018-316733. doi: 10.1136/archdischild-2018-316733. [Epub ahead of print]

PMID:
31243007
2.

Congenital clubfoot in Europe: A population-based study.

Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E.

Am J Med Genet A. 2019 Apr;179(4):595-601. doi: 10.1002/ajmg.a.61067. Epub 2019 Feb 10.

PMID:
30740879
3.

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.

Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK.

Eur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 10.

PMID:
29753093
4.

Trends in congenital anomalies in Europe from 1980 to 2012.

Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H.

PLoS One. 2018 Apr 5;13(4):e0194986. doi: 10.1371/journal.pone.0194986. eCollection 2018.

5.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

6.

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

Boyle B, Addor MC, Arriola L, Barisic I, Bianchi F, Csáky-Szunyogh M, de Walle HEK, Dias CM, Draper E, Gatt M, Garne E, Haeusler M, Källén K, Latos-Bielenska A, McDonnell B, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Wahrendorf A, Randrianaivo H, Rankin J, Rissmann A, Ritvanen A, Rounding C, Tucker D, Verellen-Dumoulin C, Wellesley D, Wreyford B, Zymak-Zakutnia N, Dolk H.

Arch Dis Child Fetal Neonatal Ed. 2018 Jan;103(1):F22-F28. doi: 10.1136/archdischild-2016-311845. Epub 2017 Jun 30.

7.

Attentional impairments in Huntington's disease: A specific deficit for the executive conflict.

Maurage P, Heeren A, Lahaye M, Jeanjean A, Guettat L, Verellen-Dumoulin C, Halkin S, Billieux J, Constant E.

Neuropsychology. 2017 May;31(4):424-436. doi: 10.1037/neu0000321. Epub 2017 Feb 27.

PMID:
28240935
8.

Prevalence of microcephaly in Europe: population based study.

Morris JK, Rankin J, Garne E, Loane M, Greenlees R, Addor MC, Arriola L, Barisic I, Bergman JE, Csaky-Szunyogh M, Dias C, Draper ES, Gatt M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony MT, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle HE, Wellesley D, Wiesel A, Dolk H.

BMJ. 2016 Sep 13;354:i4721. doi: 10.1136/bmj.i4721.

9.

Use of hierarchical models to analyze European trends in congenital anomaly prevalence.

Cavadino A, Prieto-Merino D, Addor MC, Arriola L, Bianchi F, Draper E, Garne E, Greenlees R, Haeusler M, Khoshnood B, Kurinczuk J, McDonnell B, Nelen V, O'Mahony M, Randrianaivo H, Rankin J, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle H, Wellesley D, Morris JK.

Birth Defects Res A Clin Mol Teratol. 2016 Jun;106(6):480-8. doi: 10.1002/bdra.23515.

PMID:
27301561
10.

Dissociating emotional and cognitive empathy in pre-clinical and clinical Huntington's disease.

Maurage P, Lahaye M, Grynberg D, Jeanjean A, Guettat L, Verellen-Dumoulin C, Halkin S, Heeren A, Billieux J, Constant E.

Psychiatry Res. 2016 Mar 30;237:103-8. doi: 10.1016/j.psychres.2016.01.070. Epub 2016 Jan 28.

PMID:
26869362
11.

Long term trends in prevalence of neural tube defects in Europe: population based study.

Khoshnood B, Loane M, de Walle H, Arriola L, Addor MC, Barisic I, Beres J, Bianchi F, Dias C, Draper E, Garne E, Gatt M, Haeusler M, Klungsoyr K, Latos-Bielenska A, Lynch C, McDonnell B, Nelen V, Neville AJ, O'Mahony MT, Queisser-Luft A, Rankin J, Rissmann A, Ritvanen A, Rounding C, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H.

BMJ. 2015 Nov 24;351:h5949. doi: 10.1136/bmj.h5949.

12.

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.

Luteijn JM, Addor MC, Arriola L, Bianchi F, Garne E, Khoshnood B, Nelen V, Neville A, Queisser-Luft A, Rankin J, Rounding C, Verellen-Dumoulin C, de Walle H, Wellesley D, Wreyford B, Yevtushok L, de Jong-van den Berg L, Morris J, Dolk H.

Epidemiology. 2015 Nov;26(6):853-61. doi: 10.1097/EDE.0000000000000372.

PMID:
26327589
13.

Holt Oram syndrome: a registry-based study in Europe.

Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, Dolk H.

Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y.

14.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C.

Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.

15.

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.

Calzolari E, Barisic I, Loane M, Morris J, Wellesley D, Dolk H, Addor MC, Arriola L, Bianchi F, Neville AJ, Budd JL, Klungsoyr K, Khoshnood B, McDonnell B, Nelen V, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, de Walle H, Garne E.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):270-6. doi: 10.1002/bdra.23240. Epub 2014 Apr 11.

PMID:
24723551
16.

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I.

Am J Med Genet A. 2014 May;164A(5):1289-92. doi: 10.1002/ajmg.a.36442. Epub 2014 Mar 24. Review.

PMID:
24664873
17.

Seasonality of congenital anomalies in Europe.

Luteijn JM, Dolk H, Addor MC, Arriola L, Barisic I, Bianchi F, Calzolari E, Draper E, Garne E, Gatt M, Haeusler M, Khoshnood B, McDonnell B, Nelen V, O'Mahony M, Mullaney C, Queisser-Luft A, Rankin J, Tucker D, Verellen-Dumoulin C, de Walle H, Yevtushok L.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):260-9. doi: 10.1002/bdra.23231. Epub 2014 Mar 17.

PMID:
24639385
18.

Fraser syndrome: epidemiological study in a European population.

Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Boyd PA, Draper ES, Gatt M, Haeusler M, Khoshnood B, Latos-Bielenska A, McDonnell B, Pierini A, Rankin J, Rissmann A, Queisser-Luft A, Verellen-Dumoulin C, Stone D, Tenconi R.

Am J Med Genet A. 2013 May;161A(5):1012-8. doi: 10.1002/ajmg.a.35839. Epub 2013 Mar 26.

PMID:
23532946
19.

Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

Lannoy N, Grisart B, Eeckhoudt S, Verellen-Dumoulin C, Lambert C, Vikkula M, Hermans C.

Eur J Hum Genet. 2013 Sep;21(9):970-6. doi: 10.1038/ejhg.2012.275. Epub 2013 Jan 9.

20.

Atypical findings in three patients with Pai syndrome and literature review.

Lederer D, Wilson B, Lefesvre P, Poorten VV, Kirkham N, Mitra D, Verellen-Dumoulin C, Devriendt K.

Am J Med Genet A. 2012 Nov;158A(11):2899-904. doi: 10.1002/ajmg.a.35592. Epub 2012 Sep 17. Review.

PMID:
22987662
21.

Recent decrease in the prevalence of congenital heart defects in Europe.

Khoshnood B, Loane M, Garne E, Addor MC, Arriola L, Bakker M, Barisic I, Bianca S, Boyd P, Calzolari E, Doray B, Draper E, Gatt M, Haeusler M, Melve KK, Latos-Bielenska A, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Salvador J, Tucker D, Verellen-Dumoulin C, Wellesley D, Zymak-Zakutnya N, Dolk H.

J Pediatr. 2013 Jan;162(1):108-13.e2. doi: 10.1016/j.jpeds.2012.06.035. Epub 2012 Jul 24.

PMID:
22835879
22.

Discordant monozygotic twins for macrocephaly-capillary malformation.

Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C.

Am J Med Genet A. 2012 Jun;158A(6):1509-11. doi: 10.1002/ajmg.a.35382. Epub 2012 May 14. No abstract available.

23.

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C.

Am J Hum Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub 2011 Dec 22.

24.

Paper 6: EUROCAT member registries: organization and activities.

Greenlees R, Neville A, Addor MC, Amar E, Arriola L, Bakker M, Barisic I, Boyd PA, Calzolari E, Doray B, Draper E, Vollset SE, Garne E, Gatt M, Haeusler M, Kallen K, Khoshnood B, Latos-Bielenska A, Martinez-Frias ML, Materna-Kiryluk A, Dias CM, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoélina H, Rankin J, Rissmann A, Ritvanen A, Salvador J, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Wertelecki W.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S51-S100. doi: 10.1002/bdra.20775. Epub 2011 Mar 4. Review.

PMID:
21381185
25.

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A.

Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15.

PMID:
21167329
26.

Chorea associated with anti-phospholipid antibodies: case report.

Demonty J, Gonce M, Ribai P, Verellen-Dumoulin C, Hustinx R.

Acta Clin Belg. 2010 Sep-Oct;65(5):350-3.

PMID:
21128564
27.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, François G, Verellen-Dumoulin C, Sznajer Y, Moncla A, Benateau H, Claes K, Devriendt K, Mathieu M, Van Maldergem L, Addor MC, Drouin-Garraud V, Mortier G, Bouma M, Dieux-Coeslier A, Genevieve D, Goldenberg A, Gozu A, Makrythanasis P, McEntagart U, Sanchez A, Vilain C, Vermeer S, Connell F, Verheij J, Manouvrier S, Pierquin G, Odent S, Holder-Espinasse M, Vincent-Delorme C, Gillerot Y, Vanwijck R, Bayet B, Vikkula M.

Mol Syndromol. 2010;1(2):67-74. Epub 2010 Jun 9.

28.

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B.

J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.

29.

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

Grisart B, Willatt L, Destrée A, Fryns JP, Rack K, de Ravel T, Rosenfeld J, Vermeesch JR, Verellen-Dumoulin C, Sandford R.

J Med Genet. 2009 Aug;46(8):524-30. doi: 10.1136/jmg.2008.065367. Epub 2009 Jun 4.

PMID:
19502243
30.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC.

Genet Med. 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a.

31.

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Grisart B, Rack K, Vidrequin S, Hilbert P, Deltenre P, Verellen-Dumoulin C, Destrée A.

Eur J Hum Genet. 2008 Mar;16(3):305-11. doi: 10.1038/sj.ejhg.5201978. Epub 2008 Jan 9.

32.

Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome-acute myeloid leukemia actually differ?

Lessard M, Hélias C, Struski S, Perrusson N, Uettwiller F, Mozziconacci MJ, Lafage-Pochitaloff M, Dastugue N, Terré C, Brizard F, Cornillet-Lefebvre P, Mugneret F, Barin C, Herry A, Luquet I, Desangles F, Michaux L, Verellen-Dumoulin C, Perrot C, Van den Akker J, Lespinasse J, Eclache V, Berger R; Groupe Francophone de Cytogénétique Hématologique.

Cancer Genet Cytogenet. 2007 Jul 1;176(1):1-21.

PMID:
17574959
33.

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C.

Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16.

34.

Orofacial clefting: update on the role of genetics.

Ghassibe M, Bayet B, Revencu N, Desmyter L, Verellen-Dumoulin C, Gillerot Y, Deggouj N, Vanwijck R, Vikkula M; CL/P Study Group.

B-ENT. 2006;2 Suppl 4:20-4.

PMID:
17366841
35.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L.

Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25.

PMID:
16728649
36.

Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.

Jeandidier E, Dastugue N, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Herens C, Michaux L, Verellen-Dumoulin C, Talmant P, Cornillet-Lefebvre P, Luquet I, Charrin C, Barin C, Collonge-Rame MA, Pérot C, Van den Akker J, Grégoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pagès MP, Cabrol C, Terré C, Berger R; Groupe Français de Cytogénétique Hématologique (GFCH).

Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11.

PMID:
16616106
37.

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Ghassibé M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M.

Eur J Hum Genet. 2005 Nov;13(11):1239-42.

38.

Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function.

van Scherpenzeel Thim V, Remacle S, Picard J, Cornu G, Gofflot F, Rezsohazy R, Verellen-Dumoulin C.

Hum Mutat. 2005 Apr;25(4):384-95.

PMID:
15776434
39.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.

Hum Mutat. 2004 May;23(5):525-6.

PMID:
15108294
40.

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

J Med Genet. 2004 Feb;41(2):e15. No abstract available.

41.

Free fetal DNA concentration in maternal plasma during normal labour at term.

Ingargiola I, Vaerman JL, Debiève F, Palgen G, Verellen-Dumoulin C, Hubinont C.

Prenat Diagn. 2003 Dec 30;23(13):1077-82.

PMID:
14691996
42.

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

Hum Genet. 2003 Nov;113(6):558. No abstract available.

PMID:
14640122
43.

Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

Hum Genet. 2003 Nov;113(6):558. No abstract available.

PMID:
14640121
44.

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

Hum Genet. 2003 Nov;113(6):558. No abstract available.

PMID:
14640120
45.

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

Hum Genet. 2003 Nov;113(6):557. No abstract available.

PMID:
14640119
46.

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

Hum Genet. 2003 Nov;113(6):557. No abstract available.

PMID:
14640117
47.

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

Hum Genet. 2003 Nov;113(6):556. No abstract available.

PMID:
14640113
48.

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C.

Eur J Pediatr. 2004 Jan;163(1):33-7. Epub 2003 Oct 30.

PMID:
14586646
49.

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Büchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y.

J Am Soc Nephrol. 2003 Nov;14(11):2883-93.

50.

The radioenhancement of two human head and neck squamous cell carcinomas by 2'-2' difluorodeoxycytidine (gemcitabine; dFdC) is mediated by an increase in radiation-induced residual chromosome aberrations but not residual DNA DSBs.

Rosier JF, Michaux L, Ameye G, Cedervall B, Libouton JM, Octave-Prignot M, Verellen-Dumoulin C, Scalliet P, Grégoire V.

Mutat Res. 2003 Jun 19;527(1-2):15-26.

PMID:
12787910

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