Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V. Aubert-Mucca M, et al. Among authors: zarhrate m. J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4. J Med Genet. 2023. PMID: 35927022
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S, Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S. Le TL, et al. Among authors: zarhrate m. Am J Hum Genet. 2020 Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413283 Free PMC article.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Ziegler A, et al. Among authors: zarhrate m. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010604 Free PMC article.
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. About F, et al. Among authors: zarhrate m. Front Genet. 2019 Nov 4;10:1024. doi: 10.3389/fgene.2019.01024. eCollection 2019. Front Genet. 2019. PMID: 31749832 Free PMC article.
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. Humbert C, et al. Among authors: zarhrate m. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439109 Free PMC article.
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. Parlato M, et al. Among authors: zarhrate m. EMBO Mol Med. 2018 Apr;10(4):e8483. doi: 10.15252/emmm.201708483. EMBO Mol Med. 2018. PMID: 29567797 Free PMC article.
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.
de Cevins C, Luka M, Smith N, Meynier S, Magérus A, Carbone F, García-Paredes V, Barnabei L, Batignes M, Boullé A, Stolzenberg MC, Pérot BP, Charbit B, Fali T, Pirabakaran V, Sorin B, Riller Q, Abdessalem G, Beretta M, Grzelak L, Goncalves P, Di Santo JP, Mouquet H, Schwartz O, Zarhrate M, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Corneau A, Brunaud C, Zhang SY, Casanova JL, Bader-Meunier B, Haroche J, Melki I, Lorrot M, Oualha M, Moulin F, Bonnet D, Belhadjer Z, Leruez M, Allali S, Gras-Leguen C, de Pontual L; Pediatric-Biocovid Study Group; Fischer A, Duffy D, Rieux-Laucat F, Toubiana J, Ménager MM. de Cevins C, et al. Among authors: zarhrate m. Med. 2021 Sep 10;2(9):1072-1092.e7. doi: 10.1016/j.medj.2021.08.002. Epub 2021 Aug 14. Med. 2021. PMID: 34414385 Free PMC article.
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. Lévy E, et al. Among authors: zarhrate m. Clin Immunol. 2016 Jul;168:88-93. doi: 10.1016/j.clim.2016.03.006. Epub 2016 Apr 5. Clin Immunol. 2016. PMID: 27057999
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. Pelet A, et al. Among authors: zarhrate m. Hum Mol Genet. 2019 Nov 15;28(22):3805-3814. doi: 10.1093/hmg/ddz237. Hum Mol Genet. 2019. PMID: 31600779
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort… See abstract for full author list ➔ Zhang Q, et al. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
34 results