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406 results

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Page 1
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N. Villanueva C, et al. Among authors: lefebvre h. Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25394172 Free PMC article.
An oestrogen-producing seminoma responsible for gynaecomastia.
Duparc C, Boissiere-Veverka G, Lefebvre H, Laquerriere A, Vuillermet P, Landreat A, Ivell R, DeRoux N, Kuhn JM. Duparc C, et al. Among authors: lefebvre h. Horm Metab Res. 2003 May;35(5):324-9. doi: 10.1055/s-2003-41310. Horm Metab Res. 2003. PMID: 12916004
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: lefebvre h. Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403012 Free article.
Dijet Resonance Search with Weak Supervision Using sqrt[s]=13  TeV pp Collisions in the ATLAS Detector.
Aad G, Abbott B, Abbott DC, Abed Abud A, Abeling K, Abhayasinghe DK, Abidi SH, AbouZeid OS, Abraham NL, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Achkar B, Adam L, Adam Bourdarios C, Adamczyk L, Adamek L, Adelman J, Adersberger M, Adiguzel A, Adorni S, Adye T, Affolder AA, Afik Y, Agapopoulou C, Agaras MN, Aggarwal A, Agheorghiesei C, Aguilar-Saavedra JA, Ahmad A, Ahmadov F, Ahmed WS, Ai X, Aielli G, Akatsuka S, Akbiyik M, Åkesson TPA, Akilli E, Akimov AV, Al Khoury K, Alberghi GL, Albert J, Alconada Verzini MJ, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi A, Alfonsi F, Alhroob M, Ali B, Ali S, Aliev M, Alimonti G, Allaire C, Allbrooke BMM, Allen BW, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alunno Camelia E, Alvarez Estevez M, Alviggi MG, Amaral Coutinho Y, Ambler A, Ambroz L, Amelung C, Amidei D, Amor Dos Santos SP, Amoroso S, Amrouche CS, An F, Anastopoulos C, Andari N, Andeen T, Anders JK, Andrean SY, Andreazza A, Andrei V, Anelli CR, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Antrim DJA, Anulli F, Aoki M, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Aranzabal Barrio N, Araujo Ferraz V, A… See abstract for full author list ➔ Aad G, et al. Among authors: lefebvre b, lefebvre hp, lefebvre m. Phys Rev Lett. 2020 Sep 25;125(13):131801. doi: 10.1103/PhysRevLett.125.131801. Phys Rev Lett. 2020. PMID: 33034503 Free article.
Medium-Induced Modification of Z-Tagged Charged Particle Yields in Pb+Pb Collisions at 5.02 TeV with the ATLAS Detector.
Aad G, Abbott B, Abbott DC, Abed Abud A, Abeling K, Abhayasinghe DK, Abidi SH, AbouZeid OS, Abraham NL, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Achkar B, Adam L, Adam Bourdarios C, Adamczyk L, Adamek L, Adelman J, Adersberger M, Adiguzel A, Adorni S, Adye T, Affolder AA, Afik Y, Agapopoulou C, Agaras MN, Aggarwal A, Agheorghiesei C, Aguilar-Saavedra JA, Ahmad A, Ahmadov F, Ahmed WS, Ai X, Aielli G, Akatsuka S, Akbiyik M, Åkesson TPA, Akilli E, Akimov AV, Al Khoury K, Alberghi GL, Albert J, Alconada Verzini MJ, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi A, Alfonsi F, Alhroob M, Ali B, Ali S, Aliev M, Alimonti G, Allaire C, Allbrooke BMM, Allen BW, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alunno Camelia E, Alvarez Estevez M, Alviggi MG, Amaral Coutinho Y, Ambler A, Ambroz L, Amelung C, Amidei D, Amor Dos Santos SP, Amoroso S, Amrouche CS, An F, Anastopoulos C, Andari N, Andeen T, Anders JK, Andrean SY, Andreazza A, Andrei V, Anelli CR, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Antrim DJA, Anulli F, Aoki M, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Aranzabal N, Araujo Ferraz V, Araujo P… See abstract for full author list ➔ Aad G, et al. Among authors: lefebvre b, lefebvre hp, lefebvre m. Phys Rev Lett. 2021 Feb 19;126(7):072301. doi: 10.1103/PhysRevLett.126.072301. Phys Rev Lett. 2021. PMID: 33666476 Free article.
Search for Lepton-Flavor Violation in Z-Boson Decays with τ Leptons with the ATLAS Detector.
Aad G, Abbott B, Abbott DC, Abed Abud A, Abeling K, Abhayasinghe DK, Abidi SH, Abramowicz H, Abreu H, Abulaiti Y, Abusleme Hoffman AC, Acharya BS, Achkar B, Adam L, Adam Bourdarios C, Adamczyk L, Adamek L, Adelman J, Adiguzel A, Adorni S, Adye T, Affolder AA, Afik Y, Agapopoulou C, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Aguilar-Saavedra JA, Ahmad A, Ahmadov F, Ahmed WS, Ai X, Aielli G, Akatsuka S, Akbiyik M, Åkesson TPA, Akimov AV, Al Khoury K, Alberghi GL, Albert J, Alconada Verzini MJ, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi A, Alfonsi F, Alhroob M, Ali B, Ali S, Aliev M, Alimonti G, Allaire C, Allbrooke BMM, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alunno Camelia E, Alvarez Estevez M, Alviggi MG, Amaral Coutinho Y, Ambler A, Ambroz L, Amelung C, Amidei D, Amor Dos Santos SP, Amoroso S, Amrouche CS, Anastopoulos C, Andari N, Andeen T, Anders JK, Andrean SY, Andreazza A, Andrei V, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Antrim DJA, Anulli F, Aoki M, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Aranzabal N, Araujo Ferraz V, Arcangeletti C, Arce ATH, Arena E, Arguin JF, Argyro… See abstract for full author list ➔ Aad G, et al. Among authors: lefebvre b, lefebvre hp, lefebvre m. Phys Rev Lett. 2021 Dec 31;127(27):271801. doi: 10.1103/PhysRevLett.127.271801. Phys Rev Lett. 2021. PMID: 35061407 Free article.
Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.
Boulkroun S, Beuschlein F, Rossi GP, Golib-Dzib JF, Fischer E, Amar L, Mulatero P, Samson-Couterie B, Hahner S, Quinkler M, Fallo F, Letizia C, Allolio B, Ceolotto G, Cicala MV, Lang K, Lefebvre H, Lenzini L, Maniero C, Monticone S, Perrocheau M, Pilon C, Plouin PF, Rayes N, Seccia TM, Veglio F, Williams TA, Zinnamosca L, Mantero F, Benecke A, Jeunemaitre X, Reincke M, Zennaro MC. Boulkroun S, et al. Among authors: lefebvre h. Hypertension. 2012 Mar;59(3):592-8. doi: 10.1161/HYPERTENSIONAHA.111.186478. Epub 2012 Jan 23. Hypertension. 2012. PMID: 22275527
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J. Buffet A, et al. Among authors: lefebvre h. Cancer Res. 2018 Apr 15;78(8):1914-1922. doi: 10.1158/0008-5472.CAN-17-2463. Epub 2018 Feb 5. Cancer Res. 2018. PMID: 29431636
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. Among authors: lefebvre h. J Clin Endocrinol Metab. 2006 May;91(5):1943-9. doi: 10.1210/jc.2005-2708. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464939 Free article.
406 results