Share

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

Authors :Haghighi A , Verdin H , Haghighi-Kakhki H , Piri N , Gohari NS , De Baere E
Published On :2012
Journal Article Research Support, Non-U.S. Gov't


Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.

Authors :Sacharow S , Li D , Fan YS , Tekin M
Published On :2012 Mar
Case Reports Journal Article


DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Authors :Jones MA , Ng BG , Bhide S , Chin E , Rhodenizer D , He P , Losfeld ME , He M , Raymond K , Berry G , Freeze HH , Hegde MR
Published On :2012 Feb 10
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


The coupled cluster singles, doubles, and a hybrid treatment of connected triples based on the split virtual orbitals.

Authors :Shen J , Kou Z , Xu E , Li S
Published On :2012 Jan 28
Journal Article


The PLR-DTW method for ECG based biometric identification.

Authors :Shen J , Bao SD , Yang LC , Li Y
Published On :2011
Journal Article Research Support, Non-U.S. Gov't


Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models.

Authors :Yu Y , Reynolds R , Rosner B , Daly MJ , Seddon JM
Published On :2012 Mar
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Cytokines in rotator cuff degeneration and repair.

Authors :Bedi A , Maak T , Walsh C , Rodeo SA , Grande D , Dines DM , Dines JS
Published On :2012 Feb
Comparative Study Journal Article Review


A genome-wide association search for type 2 diabetes genes in African Americans.

Authors :Palmer ND , McDonough CW , Hicks PJ , Roh BH , Wing MR , An SS , Hester JM , Cooke JN , Bostrom MA , Rudock ME , Talbert ME , Lewis JP , DIAGRAM Consortium , MAGIC Investigators , Ferrara A , Lu L , Ziegler JT , Sale MM , Divers J , Shriner D , Adeyemo A , Rotimi CN , Ng MC , Langefeld CD , Freedman BI , Bowden DW , Voight BF , Scott LJ , Steinthorsdottir V , Morris AP , Dina C , Welch RP , Zeggini E , Huth C , Aulchenko YS , Thorleifsson G , McCulloch LJ , Ferreira T , Grallert H , Amin N , Wu G , Willer CJ , Raychaudhuri S , McCarroll SA , Langenberg C , Hofmann OM , Dupuis J , Qi L , Segrè AV , van Hoek M , Navarro P , Ardlie K , Balkau B , Benediktsson R , Bennett AJ , Blagieva R , Boerwinkle E , Bonnycastle LL , Boström KB , Bravenboer B , Bumpstead S , Burtt NP , Charpentier G , Chines PS , Cornelis M , Couper DJ , Crawford G , Doney AS , Elliott KS , Elliott AL , Erdos MR , Fox CS , Franklin CS , Ganser M , Gieger C , Grarup N , Green T , Griffin S , Groves CJ , Guiducci C , Hadjadj S , Hassanali N , Herder C , Isomaa B , Jackson AU , Johnson PR , Jørgensen T , Kao WH , Klopp N , Kong A , Kraft P , Kuusisto J , Lauritzen T , Li M , Lieverse A , Lindgren CM , Lyssenko V , Marre M , Meitinger T , Midthjell K , Morken MA , Narisu N , Nilsson P , Owen KR , Payne F , Perry JR , Petersen AK , Platou C , Proença C , Prokopenko I , Rathmann W , Rayner NW , Robertson NR , Rocheleau G , Roden M , Sampson MJ , Saxena R , Shields BM , Shrader P , Sigurdsson G , Sparsø T , Strassburger K , Stringham HM , Sun Q , Swift AJ , Thorand B , Tichet J , Tuomi T , van Dam RM , van Haeften TW , van Herpt T , van Vliet-Ostaptchouk JV , Walters GB , Weedon MN , Wijmenga C , Witteman J , Bergman RN , Cauchi S , Collins FS , Gloyn AL , Gyllensten U , Hansen T , Hide WA , Hitman GA , Hofman A , Hunter DJ , Hveem K , Laakso M , Mohlke KL , Morris AD , Palmer CN , Pramstaller PP , Rudan I , Sijbrands E , Stein LD , Tuomilehto J , Uitterlinden A , Walker M , Wareham NJ , Watanabe RM , Abecasis GR , Boehm BO , Campbell H , Daly MJ , Hattersley AT , Hu FB , Meigs JB , Pankow JS , Pedersen O , Wichmann HE , Barroso I , Florez JC , Frayling TM , Groop L , Sladek R , Thorsteinsdottir U , Wilson JF , Illig T , Froguel P , van Duijn CM , Stefansson K , Altshuler D , Boehnke M , McCarthy MI , Soranzo N , Wheeler E , Glazer NL , Bouatia-Naji N , Mägi R , Randall J , Johnson T , Elliott P , Rybin D , Henneman P , Dehghan A , Hottenga JJ , Song K , Goel A , Egan JM , Lajunen T , Doney A , Kanoni S , Cavalcanti-Proença C , Kumari M , Timpson NJ , Zabena C , Ingelsson E , An P , O'Connell J , Luan J , Elliott A , McCarroll SA , Roccasecca RM , Pattou F , Sethupathy P , Ariyurek Y , Barter P , Beilby JP , Ben-Shlomo Y , Bergmann S , Bochud M , Bonnefond A , Borch-Johnsen K , Böttcher Y , Brunner E , Bumpstead SJ , Chen YD , Chines P , Clarke R , Coin LJ , Cooper MN , Crisponi L , Day IN , de Geus EJ , Delplanque J , Fedson AC , Fischer-Rosinsky A , Forouhi NG , Frants R , Franzosi MG , Galan P , Goodarzi MO , Graessler J , Grundy S , Gwilliam R , Hallmans G , Hammond N , Han X , Hartikainen AL , Hayward C , Heath SC , Hercberg S , Hicks AA , Hillman DR , Hingorani AD , Hui J , Hung J , Jula A , Kaakinen M , Kaprio J , Kesaniemi YA , Kivimaki M , Knight B , Koskinen S , Kovacs P , Kyvik KO , Lathrop GM , Lawlor DA , Le Bacquer O , Lecoeur C , Li Y , Mahley R , Mangino M , Manning AK , Martínez-Larrad MT , McAteer JB , McPherson R , Meisinger C , Melzer D , Meyre D , Mitchell BD , Mukherjee S , Naitza S , Neville MJ , Oostra BA , Orrù M , Pakyz R , Paolisso G , Pattaro C , Pearson D , Peden JF , Pedersen NL , Perola M , Pfeiffer AF , Pichler I , Polasek O , Posthuma D , Potter SC , Pouta A , Province MA , Psaty BM , Rayner NW , Rice K , Ripatti S , Rivadeneira F , Rolandsson O , Sandbaek A , Sandhu M , Sanna S , Sayer AA , Scheet P , Seedorf U , Sharp SJ , Shields B , Sijbrands EJ , Silveira A , Simpson L , Singleton A , Smith NL , Sovio U , Swift A , Syddall H , Syvänen AC , Tanaka T , Tönjes A , Uitterlinden AG , van Dijk KW , Varma D , Visvikis-Siest S , Vitart V , Vogelzangs N , Waeber G , Wagner PJ , Walley A , Ward KL , Watkins H , Wild SH , Willemsen G , Witteman JC , Yarnell JW , Zelenika D , Zethelius B , Zhai G , Zhao JH , Zillikens MC , Borecki IB , Loos RJ , Meneton P , Magnusson PK , Nathan DM , Williams GH , Silander K , Salomaa V , Smith GD , Bornstein SR , Schwarz P , Spranger J , Karpe F , Shuldiner AR , Cooper C , Dedoussis GV , Serrano-Ríos M , Lind L , Palmer LJ , Franks PW , Ebrahim S , Marmot M , Kao WH , Pramstaller PP , Wright AF , Stumvoll M , Hamsten A , Buchanan TA , Valle TT , Rotter JI , Siscovick DS , Penninx BW , Boomsma DI , Deloukas P , Spector TD , Ferrucci L , Cao A , Scuteri A , Schlessinger D , Uda M , Ruokonen A , Jarvelin MR , Waterworth DM , Vollenweider P , Peltonen L , Mooser V , Sladek R
Published On :2012
Journal Article Research Support, N.I.H., Extramural


A comparison of long-term mortality for off-pump and on-pump coronary artery bypass graft surgery.

Authors :Wu C , Camacho FT , Culliford AT , Gold JP , Wechsler AS , Higgins RS , Lahey SJ , Smith CR , Jordan D , Hannan EL
Published On :2012 Jan
Comparative Study Journal Article Research Support, N.I.H., Extramural


The mystery of missing heritability: Genetic interactions create phantom heritability.

Authors :Zuk O , Hechter E , Sunyaev SR , Lander ES
Published On :2012 Jan 24
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias.

Authors :Noebels JL , Avoli M , Rogawski MA , Olsen RW , Delgado-Escueta AV , Liu JS , Schubert CR , Walsh CA
Published On :2012
Review


Three ring posttranslational circuses: insertion of oxazoles, thiazoles, and pyridines into protein-derived frameworks.

Authors :Walsh CT , Malcolmson SJ , Young TS
Published On :2012 Mar 16
Journal Article Research Support, N.I.H., Extramural


Exploration of the safe upper level of iodine intake in euthyroid Chinese adults: a randomized double-blind trial.

Authors :Sang Z , Wang PP , Yao Z , Shen J , Halfyard B , Tan L , Zhao N , Wu Y , Gao S , Tan J , Liu J , Chen Z , Zhang W
Published On :2012 Feb
Journal Article Randomized Controlled Trial Research Support, Non-U.S. Gov't


Differentiation of HT22 neurons induces expression of NMDA receptor that mediates homocysteine cytotoxicity.

Authors :Zhao Z , Lu R , Zhang B , Shen J , Yang L , Xiao S , Liu J , Suo WZ
Published On :2012 Jan
Journal Article Research Support, Non-U.S. Gov't


Spectral editing for in vivo ¹³C magnetic resonance spectroscopy.

Authors :Xiang Y , Shen J
Published On :2012 Jan
Journal Article Research Support, N.I.H., Intramural