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Page 1
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D. Robertson SP, et al. Among authors: mancini g. Am J Med Genet A. 2006 Aug 15;140(16):1726-36. doi: 10.1002/ajmg.a.31322. Am J Med Genet A. 2006. PMID: 16835913
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. Rahman N, et al. Among authors: mancini g. Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214284 Free PMC article.
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Hanks S, et al. Among authors: mancini g. Am J Hum Genet. 2003 Oct;73(4):791-800. doi: 10.1086/378418. Epub 2003 Aug 21. Am J Hum Genet. 2003. PMID: 14508707 Free PMC article.
Autosomal dominant inheritance of left ventricular outflow tract obstruction.
Wessels MW, Berger RM, Frohn-Mulder IM, Roos-Hesselink JW, Hoogeboom JJ, Mancini GS, Bartelings MM, Krijger Rd, Wladimiroff JW, Niermeijer MF, Grossfeld P, Willems PJ. Wessels MW, et al. Am J Med Genet A. 2005 Apr 15;134A(2):171-9. doi: 10.1002/ajmg.a.30601. Am J Med Genet A. 2005. PMID: 15712195
Spherophakia associated with molybdenum cofactor deficiency.
Parini R, Briscioli V, Caruso U, Dorche C, Fortuna R, Minniti G, Selicorni A, Vismara E, Mancini G. Parini R, et al. Among authors: mancini g. Am J Med Genet. 1997 Dec 19;73(3):272-5. doi: 10.1002/(sici)1096-8628(19971219)73:3<272::aid-ajmg8>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9415683
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Sobacchi C, et al. Among authors: mancini g. Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632511
Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.
Aad G, Aakvaag E, Abbott B, Abdelhameed S, Abeling K, Abicht NJ, Abidi SH, Aboelela M, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Ackermann A, Adam Bourdarios C, Adamczyk L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Aktas S, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Alegria ZL, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alsolami ZMK, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amini B, Amirie KJ, Amor Dos Santos SP, Amos KR, An S, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Anderson AC, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Antipov E, Antonelli M, … See abstract for full author list ➔ Aad G, et al. Among authors: mancini g. Phys Rev Lett. 2024 Dec 20;133(25):252301. doi: 10.1103/PhysRevLett.133.252301. Phys Rev Lett. 2024. PMID: 39752696 Free article.
Neuropsychological tests at the Italian Centers for Cognitive Disorders and Dementias: results from a survey on 450 specialized services.
Vaccaro R, Lorenzini P, Giaquinto F, Matascioli F, Carnevale G, Sciancalepore F, Gasparini M, Salvi E, Corbo M, Locuratolo N, Vanacore N, Bacigalupo I; Permanent Table of the National Dementia Plan Study Group; CCDDs Study Group. Vaccaro R, et al. Aging Clin Exp Res. 2024 Dec 20;37(1):1. doi: 10.1007/s40520-024-02869-6. Aging Clin Exp Res. 2024. PMID: 39704981 Free PMC article.
Relationship Between Severity of Ischemia and Coronary Artery Disease for Different Stress Test Modalities in the ISCHEMIA Trial.
Reynolds HR, Page CB, Shaw LJ, Berman DS, Chaitman BR, Picard MH, Kwong RY, Min JK, Leipsic J, Mancini GBJ, Budoff MJ, Hague CJ, Senior R, Szwed H, Bhargava B, Celutkiene J, Gadkari M, Bainey KR, Doerr R, Ramos RB, Ong P, Naik SR, Steg PG, Goetschalckx K, Chow BJW, Scherrer-Crosbie M, Phillips L, Mark DB, Spertus JA, Alexander KP, O'Brien SM, Boden WE, Bangalore S, Stone GW, Maron DJ, Hochman JS; ISCHEMIA Research Group. Reynolds HR, et al. Among authors: mancini gbj. Circ Cardiovasc Interv. 2024 Dec;17(12):e013743. doi: 10.1161/CIRCINTERVENTIONS.123.013743. Epub 2024 Dec 17. Circ Cardiovasc Interv. 2024. PMID: 39689188 Clinical Trial.
1,456 results