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Items: 1 to 50 of 57

1.

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Lévy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S.

Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041.

PMID:
31030682
2.

The diverse neural crest: from embryology to human pathology.

Etchevers HC, Dupin E, Le Douarin NM.

Development. 2019 Mar 11;146(5). pii: dev169821. doi: 10.1242/dev.169821. Review.

3.

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma.

Fultang L, Gamble LD, Gneo L, Berry AM, Egan SA, De Bie F, Yogev O, Eden GL, Booth S, Brownhill S, Vardon A, McConville CM, Cheng PN, Norris MD, Etchevers HC, Murray J, Ziegler DS, Chesler L, Schmidt R, Burchill SA, Haber M, De Santo C, Mussai F.

Cancer Res. 2019 Feb 1;79(3):611-624. doi: 10.1158/0008-5472.CAN-18-2139. Epub 2018 Dec 13.

4.

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations.

Zaffran S, Odelin G, Stefanovic S, Lescroart F, Etchevers HC.

Genesis. 2018 Jun;56(6-7):e23221. doi: 10.1002/dvg.23221.

PMID:
30134070
5.

The hedgehog pathway and ocular developmental anomalies.

Cavodeassi F, Creuzet S, Etchevers HC.

Hum Genet. 2019 Sep;138(8-9):917-936. doi: 10.1007/s00439-018-1918-8. Epub 2018 Aug 2. Review.

6.

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules.

Macagno N, Etchevers HC, Malissen N, Rome A, Hesse S, Mallet S, Degardin N, Gaudy C.

Am J Surg Pathol. 2018 May;42(5):701-704. doi: 10.1097/PAS.0000000000001026. No abstract available.

PMID:
29369061
7.

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Thomas AC, Heux P, Santos C, Arulvasan W, Solanky N, Carey ME, Gerrelli D, Kinsler VA, Etchevers HC.

Birth Defects Res. 2018 Mar 15;110(5):443-455. doi: 10.1002/bdr2.1183. Epub 2018 Jan 8.

8.

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

Etchevers HC, Rose C, Kahle B, Vorbringer H, Fina F, Heux P, Berger I, Schwarz B, Zaffran S, Macagno N, Krengel S.

Pigment Cell Melanoma Res. 2018 May;31(3):437-441. doi: 10.1111/pcmr.12685. Epub 2018 Jan 29.

PMID:
29316280
9.

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

Boeva V, Louis-Brennetot C, Peltier A, Durand S, Pierre-Eugène C, Raynal V, Etchevers HC, Thomas S, Lermine A, Daudigeos-Dubus E, Geoerger B, Orth MF, Grünewald TGP, Diaz E, Ducos B, Surdez D, Carcaboso AM, Medvedeva I, Deller T, Combaret V, Lapouble E, Pierron G, Grossetête-Lalami S, Baulande S, Schleiermacher G, Barillot E, Rohrer H, Delattre O, Janoueix-Lerosey I.

Nat Genet. 2017 Sep;49(9):1408-1413. doi: 10.1038/ng.3921. Epub 2017 Jul 24.

PMID:
28740262
10.

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma.

Charlet J, Tomari A, Dallosso AR, Szemes M, Kaselova M, Curry TJ, Almutairi B, Etchevers HC, McConville C, Malik KT, Brown KW.

Mol Carcinog. 2017 Apr;56(4):1290-1301. doi: 10.1002/mc.22591. Epub 2016 Nov 29.

11.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P.

Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18.

12.

Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages.

El Robrini N, Etchevers HC, Ryckebüsch L, Faure E, Eudes N, Niederreither K, Zaffran S, Bertrand N.

Dev Dyn. 2016 Mar;245(3):388-401. doi: 10.1002/dvdy.24357. Epub 2015 Oct 28.

13.

Practical application of the new classification scheme for congenital melanocytic nevi.

Price HN, O'Haver J, Marghoob A, Badger K, Etchevers H, Krengel S.

Pediatr Dermatol. 2015 Jan-Feb;32(1):23-7. doi: 10.1111/pde.12428. Epub 2014 Oct 27.

PMID:
25346440
14.

Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi.

Etchevers HC.

J Invest Dermatol. 2014 Apr;134(4):879-882. doi: 10.1038/jid.2013.531.

15.

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus.

Yajima I, Colombo S, Puig I, Champeval D, Kumasaka M, Belloir E, Bonaventure J, Mark M, Yamamoto H, Taketo MM, Choquet P, Etchevers HC, Beermann F, Delmas V, Monassier L, Larue L.

PLoS One. 2013;8(1):e53183. doi: 10.1371/journal.pone.0053183. Epub 2013 Jan 31.

16.

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):683-92. doi: 10.1002/bdra.23040. Epub 2012 Jul 18.

17.

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW.

J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.

PMID:
22577225
18.

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC.

PLoS One. 2012;7(1):e30677. doi: 10.1371/journal.pone.0030677. Epub 2012 Jan 27.

19.

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM.

Gastroenterology. 2012 Mar;142(3):453-462.e3. doi: 10.1053/j.gastro.2011.11.038. Epub 2011 Dec 7.

PMID:
22155368
20.

Germline gain-of-function mutations of ALK disrupt central nervous system development.

de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugière L, Delattre O, Vekemans M, Etchevers H, Lyonnet S, Janoueix-Lerosey I, Amiel J.

Hum Mutat. 2011 Mar;32(3):272-6. doi: 10.1002/humu.21442.

PMID:
21972109
21.

Primary culture of chick, mouse or human neural crest cells.

Etchevers H.

Nat Protoc. 2011 Sep 22;6(10):1568-77. doi: 10.1038/nprot.2011.398.

PMID:
21959239
22.

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas.

Macé M, Galiacy SD, Erraud A, Mejía JE, Etchevers H, Allouche M, Desjardins L, Calvas P, Malecaze F.

Invest Ophthalmol Vis Sci. 2011 Aug 3;52(9):6181-91. doi: 10.1167/iovs.10-70981.

PMID:
21676910
23.

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen.

Krengel S, Breuninger H, Beckwith M, Etchevers HC.

Pigment Cell Melanoma Res. 2011 Aug;24(4):E1-6. doi: 10.1111/j.1755-148X.2011.00875.x. Epub 2011 Jul 4. No abstract available.

PMID:
21672181
24.

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual L.

Eur J Hum Genet. 2011 May;19(5):602-6. doi: 10.1038/ejhg.2010.225. Epub 2011 Jan 12.

25.

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T.

Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.

PMID:
20690116
26.

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment.

Chaabouni M, Etchevers H, De Blois MC, Calvas P, Waill-Perrier MC, Vekemans M, Romana SP.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4380-6. doi: 10.1167/iovs.09-4111. Epub 2010 Feb 17.

PMID:
20164457
27.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31.

28.

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attie-Bitach T, Encha-Razavi F.

Eur J Med Genet. 2009 Nov-Dec;52(6):386-92. doi: 10.1016/j.ejmg.2009.07.006. Epub 2009 Jul 25.

PMID:
19635601
29.

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L.

Am J Hum Genet. 2009 Jul;85(1):106-11. doi: 10.1016/j.ajhg.2009.06.002. Epub 2009 Jun 25.

30.

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P.

Hum Mutat. 2009 May;30(5):E673-81. doi: 10.1002/humu.21023.

PMID:
19309693
31.

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J.

Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935.

PMID:
19235238
32.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.

Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.

PMID:
19234473
33.

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.

Sajedi E, Gaston-Massuet C, Signore M, Andoniadou CL, Kelberman D, Castro S, Etchevers HC, Gerrelli D, Dattani MT, Martinez-Barbera JP.

Dis Model Mech. 2008 Nov-Dec;1(4-5):241-54. doi: 10.1242/dmm.000711. Epub 2008 Nov 6.

34.

Confirmation of RAX gene involvement in human anophthalmia.

Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, Chassaing N, Calvas P.

Clin Genet. 2008 Oct;74(4):392-5. doi: 10.1111/j.1399-0004.2008.01078.x. Epub 2008 Sep 9.

35.

Human neural crest cells display molecular and phenotypic hallmarks of stem cells.

Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC.

Hum Mol Genet. 2008 Nov 1;17(21):3411-25. doi: 10.1093/hmg/ddn235. Epub 2008 Aug 8.

36.

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J.

Eur J Cancer. 2007 Nov;43(16):2366-72. Epub 2007 Aug 31.

37.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC.

Am J Hum Genet. 2007 Jun;80(6):1179-87. Epub 2007 Apr 11.

38.

[Genetic and molecular bases of neurocristopathies].

Etchevers HC, Amiel J, Lyonnet S.

Arch Pediatr. 2007 Jun;14(6):668-72. Epub 2007 Apr 16. French. No abstract available.

PMID:
17434298
39.

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S.

Nat Genet. 2007 Apr;39(4):454-6. Epub 2007 Mar 11.

PMID:
17353897
40.

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A.

Am J Med Genet A. 2007 Feb 1;143A(3):219-28.

PMID:
17236193
41.

Molecular bases of human neurocristopathies.

Etchevers HC, Amiel J, Lyonnet S.

Adv Exp Med Biol. 2006;589:213-34. Review. No abstract available.

PMID:
17076285
42.

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.

Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, Etchevers HC.

Prenat Diagn. 2006 Dec;26(13):1201-5.

PMID:
17075794
43.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T.

J Med Genet. 2006 Mar;43(3):211-217. Epub 2005 Sep 16.

44.

[Vascularization of the head and neck during development].

Detrait E, Etchevers HC.

J Neuroradiol. 2005 Jun;32(3):147-56. Review. French.

PMID:
16134296
45.

Human neural tube defects: developmental biology, epidemiology, and genetics.

Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC.

Neurotoxicol Teratol. 2005 May-Jun;27(3):515-24. Epub 2005 Mar 5. Review.

47.

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.

Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC.

Hum Genet. 2005 Jul;117(2-3):133-42. Epub 2005 May 10.

48.

Gene expression in pharyngeal arch 1 during human embryonic development.

Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M.

Hum Mol Genet. 2005 Apr 1;14(7):903-12. Epub 2005 Feb 9.

PMID:
15703188
49.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T.

Am J Hum Genet. 2005 Mar;76(3):493-504. Epub 2005 Jan 21.

50.

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attié-Bitach T.

J Clin Endocrinol Metab. 2005 Jan;90(1):455-62. Epub 2004 Oct 19.

PMID:
15494458

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