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Items: 20

1.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
2.

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

About F, Bibert S, Jouanguy E, Nalpas B, Lorenzo L, Rattina V, Zarhrate M, Hanein S, Munteanu M, Müllhaupt B, Semela D, Semmo N, Casanova JL, Theodorou I, Sultanik P, Poynard T, Pol S, Bochud PY, Cobat A, Abel L; Swiss Hepatitis C Cohort Study Group; French ANRS HC EP 26 Genoscan Study Group.

Front Genet. 2019 Nov 4;10:1024. doi: 10.3389/fgene.2019.01024. eCollection 2019.

3.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M.

Hum Mol Genet. 2019 Nov 15;28(22):3805-3814. doi: 10.1093/hmg/ddz237.

PMID:
31600779
4.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magérus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J, Fourrage C, Hanein S, Zarhrate M, Pasquet M, Abou Chahla W, Barlogis V, Bertrand Y, Pellier I, Colomb Bottollier E, Fouyssac F, Blouin P, Thomas C, Cheikh N, Dore E, Pondarre C, Plantaz D, Jeziorski E, Millot F, Garcelon N, Ducassou S, Perel Y, Leblanc T, Neven B, Fischer A, Rieux-Laucat F; members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE).

Blood. 2019 Jul 4;134(1):9-21. doi: 10.1182/blood-2018-11-887141. Epub 2019 Apr 2.

PMID:
30940614
5.

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

El-Daher MT, Cagnard N, Gil M, Da Cruz MC, Leveau C, Sepulveda F, Zarhrate M, Tores F, Legoix P, Baulande S, de Villartay JP, Almouzni G, Quivy JP, Fischer A, de Saint Basile G.

Cell Discov. 2018 Nov 13;4:61. doi: 10.1038/s41421-018-0061-y. eCollection 2018.

6.

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH, Warner N, Francalanci P, Bruneau J, Bras M, Zarhrate M, Bègue B, Guegan N, Rakotobe S, Kapel N, De Angelis P, Griffiths AM, Fiedler K, Crowley E, Ruemmele F, Muise AM, Cerf-Bensussan N.

EMBO Mol Med. 2018 Apr;10(4). pii: e8483. doi: 10.15252/emmm.201708483.

7.

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Lévy E, Stolzenberg MC, Bruneau J, Breton S, Neven B, Sauvion S, Zarhrate M, Nitschké P, Fischer A, Magérus-Chatinet A, Quartier P, Rieux-Laucat F.

Clin Immunol. 2016 Jul;168:88-93. doi: 10.1016/j.clim.2016.03.006. Epub 2016 Apr 5.

PMID:
27057999
8.

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S.

Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666.

9.

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.

Duchatelet S, Guibbal L, de Veer S, Fraitag S, Nitschké P, Zarhrate M, Bodemer C, Hovnanian A.

Br J Dermatol. 2014 Sep;171(3):675-8. doi: 10.1111/bjd.12951. Epub 2014 Aug 4. No abstract available.

PMID:
24606194
10.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C.

Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Erratum in: Am J Hum Genet. 2014 May 1;94(5):799.

11.

[Early gene expression dysregulation and intellectual disability].

Boissel S, Hashimoto S, Rio M, Zarhrate M, Munnich A, Colleaux L, Egly JM.

Med Sci (Paris). 2012 Feb;28(2):128-9. doi: 10.1051/medsci/2012282003. Epub 2012 Feb 27. French. No abstract available.

12.

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L.

Science. 2011 Aug 26;333(6046):1161-3. doi: 10.1126/science.1206638.

13.

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, Schaffner C, Cluet-Dennetiere S, Haerynck F, Michel G, Bole-Feysot C, Zarhrate M, Radford-Weiss I, Romana SP, Picard C, Fischer A, Rieux-Laucat F.

J Clin Invest. 2011 Jan;121(1):106-12. doi: 10.1172/JCI43752. Epub 2010 Dec 22.

14.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E, Bourdon A, Chrétien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rötig A.

J Pediatr. 2007 May;150(5):531-4, 534.e1-6.

PMID:
17452231
15.

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L.

Hum Mutat. 2007 Feb;28(2):205-6.

PMID:
17221863
16.

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L.

Hum Mutat. 2006 Aug;27(8):731-5.

PMID:
16799922
17.

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
18.

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
19.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A.

Eur J Hum Genet. 2004 Jun;12(6):483-8.

20.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S.

Ann Neurol. 2002 May;51(5):585-92.

PMID:
12112104

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