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TitoloData di pubblicazioneAutore(i)RivistaEditore
Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene1997Huber R; Crisponi L; Mazzarella R; Chen CN; Su Y; Shizuya H; Chen EY; Cao A; Pilia GGENOMICS
Glypican 3 and glypican 4 are juxtaposed in Xq26.11998Huber R; Mazzarella R; Chen CN; Chen E; Ireland M; Lindsay S; Pilia G; Crisponi LGENE
Jagged-1 mutation analysis in Italian Alagille syndrome patients1999Pilia G; Uda M; Macis D; Frau F; Crisponi L; Balli F; Barbera C; Colombo C; Frediani T; Gatti R; ...Iorio R; Marazzi MG; Marcellini M; Musumeci S; Nebbia G; Vajro P; Ruffa G; Zancan L; Cao A; DeVirgilis SHUMAN MUTATION
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome2001Crisponi L; Deiana M; Loi A; Chiappe F; Uda M; Amati P; Bisceglia L; Zelante L; Nagaraja R; Porcu... S; Ristaldi MS; Marzella R; Rocchi M; Nicolino M; Lienhardt-Roussie A; Nivelon A; Verloes A; Schlessinger D; Gasparini P; Bonneau D; Cao A; Pilia GNATURE GENETICS
Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling2002Chiao E; Fisher P; Crisponi L; Deiana M; Dragatsis I; Schlessinger D; Pilia G; Efstratiadis ADEVELOPMENTAL BIOLOGY
Genes and translocations involved in POF2002Schlessinger D; Herrera L; Crisponi L; Mumm S; Percesepe A; Pellegrini M; Pilia G; Forabosco AAMERICAN JOURNAL OF HUMAN GENETICS
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences2004Crisponi L; Uda M; Deiana M; Loi A; Nagaraja R; Chiappe F; Schlessinger D; Cao A; Pilia GGENOMICS
Aging of oocyte, ovary, and human reproduction2004Ottolenghi C; Uda M; Hamatani T; Crisponi L; Garcia JE; Ko M; Pilia G; Sforza C; Schlessinger D; ...Forabosco AANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development2004Uda M; Ottolenghi C; Crisponi L; Garcia JE; Deiana M; Kimber W; Forabosco A; Cao A; Schlessinger ...D; Pilia GHUMAN MOLECULAR GENETICS
Foxl2 is required for commitment to ovary differentiation2005Ottolenghi C; Omari S; Garcia-Ortiz JE; Uda M; Crisponi L; Forabosco A; Pilia G; Schlessinger DHUMAN MOLECULAR GENETICS
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts2007Li S; Sanna S; Maschio A; Busonero F; Usala G; Mulas A; Lai S; Dei M; Orrù M; Albai G; Bandinelli... S; Schlessinger D; Lakatta E; Scuteri A; Najjar SS; Guralnik J; Naitza S; Crisponi L; Cao A; Abecasis G; Ferrucci L; Uda M; Chen WM; Nagaraja RPLOS GENETICS
Determination and stability of sex2007Ottolenghi C; Uda M; Crisponi L; Omari S; Cao A; Forabosco A; Schlessinger DBIOESSAYS
Transcriptional control of ovarian development in somatic cells2007Ottolenghi C; Colombino M; Crisponi L; Cao A; Forabosco A; Schlessinger D; Uda MSEMINARS IN REPRODUCTIVE MEDICINE
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 12007Crisponi L; Crisponi G; Meloni A; Toliat MR; Nurnberg G; Usala G; Uda M; Masala M; Hohne W; Becke...r C; Marongiu M; Chiappe F; Kleta R; Rauch A; Wollnik B; Strasser F; Reese T; Jakobs C; Kurlemann G; Cao A; Nurnberg P; Rutsch FAMERICAN JOURNAL OF HUMAN GENETICS
IRAK-M is involved in the pathogenesis of early-onset persistent asthma2007Balaci L; Spada MC; Olla N; Sole G; Loddo L; Anedda F; Naitza S; Zuncheddu MA; Maschio A; Altea D...; Uda M; Pilia S; Sanna S; Masala M; Crisponi L; Fattori M; Devoto M; Doratiotto S; Rassu S; Mereu S; Giua E; Cadeddu NG; Atzeni R; Pelosi U; Corrias A; Perra R; Torrazza PL; Pirina P; Ginesu F; Marcias S; Schintu MG; Del Giacco GS; Manconi PE; Malerba G; Bisognin A; Trabetti E; Boner A; Pescollderungg L; Pignatti PF; Schlessinger D; Cao A; Pilia GAMERICAN JOURNAL OF HUMAN GENETICS
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function2008Arnaud-Lopez L; Usala G; Ceresini G; Mitchell BD; Pilia MG; Piras MG; Sestu N; Maschio A; Busoner...o F; Albai G; Dei M; Lai S; Mulas A; Crisponi L; Tanaka T; Bandinelli S; Guralnik JM; Loi A; Balaci L; Sole G; Prinzis A; Mariotti S; Shuldiner AR; Cao A; Schlessinger D; Uda M; Abecasis GR; Nagaraja R; Sanna S; Naitza SAMERICAN JOURNAL OF HUMAN GENETICS
Common variants in the GDF5-UQCC region are associated with variation in human height2008Sanna S; Jackson AU; Nagaraja R; Willer CJ; Chen WM; Bonnycastle LL; Shen H; Timpson N; Lettre G;... Usala G; Chines PS; Stringham HM; Scott LJ; Dei M; Lai S; Albai G; Crisponi L; Naitza S; Doheny KF; Pugh EW; Ben-Shlomo Y; Ebrahim S; Lawlor DA; Bergman RN; Watanabe RM; Uda M; Tuomilehto J; Coresh J; Hirschhorn JN; Shuldiner AR; Schlessinger D; Collins FS; Davey Smith G; Boerwinkle E; Cao A; Boehnke M; Abecasis GR; Mohlke KLNATURE GENETICS
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus2008Thomas N; Danda S; Kumar M; Jana AK; Crisponi G; Meloni A; Crisponi LAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area2008Floris C; Rassu S; Boccone L; Gasperini D; Cao A; Crisponi LEUROPEAN JOURNAL OF HUMAN GENETICS
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia2008Uda M; Galanello R; Sanna S; Lettre G; Sankaran VG; Chen W; Usala G; Busonero F; Maschio A; Albai... G; Piras MG; Sestu N; Lai S; Dei M; Mulas A; Crisponi L; Naitza S; Asunis I; Deiana M; Nagaraja R; Perseu L; Satta S; Cipollina MD; Sollaino C; Moi P; Hirschhorn JN; Orkin SH; Abecasis GR; Schlessinger D; Cao APROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
   
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