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Page 1
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.
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
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
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
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
Factors Associated With Coronary Angiography Performed Within 6 Months of Randomization to the Conservative Strategy in the ISCHEMIA Trial.
Pracoń R, Spertus JA, Broderick S, Bangalore S, Rockhold FW, Ruzyllo W, Demchenko E, Nageh T, Grossman GB, Mavromatis K, Manjunath CN, Smanio PEP, Stone GW, Mancini GBJ, Boden WE, Newman JD, Reynolds HR, Hochman JS, Maron DJ; ISCHEMIA Research Group. Pracoń R, et al. Among authors: mancini gbj. Circ Cardiovasc Interv. 2024 Apr 17:e013435. doi: 10.1161/CIRCINTERVENTIONS.123.013435. Online ahead of print. Circ Cardiovasc Interv. 2024. PMID: 38629312
Study of High-Transverse-Momentum Higgs Boson Production in Association with a Vector Boson in the qqbb Final State with the ATLAS Detector.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, 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, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Aizenberg I, 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, 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, Amor Dos Santos SP, Amos KR, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bella L, A… See abstract for full author list ➔ Aad G, et al. Among authors: mancini g. Phys Rev Lett. 2024 Mar 29;132(13):131802. doi: 10.1103/PhysRevLett.132.131802. Phys Rev Lett. 2024. PMID: 38613283
1,415 results