-
1
-
-
0031959207
-
Pathogenesis of infantile hypertrophic pyloric stenosis: Recent progress
-
DOI 10.1007/s003830050308
-
K Ohshiro P Puri 1998 Pathogenesis of infantile hypertrophic pyloric stenosis: recent progress Pediatr Surg Int 13 243 252 9553181 10.1007/s003830050308 1:STN:280:DyaK1c3itFantQ%3D%3D (Pubitemid 28197657)
-
(1998)
Pediatric Surgery International
, vol.13
, Issue.4
, pp. 243-252
-
-
Ohshiro, K.1
Puri, P.2
-
2
-
-
44249117991
-
Two-generation pyloric stenosis
-
13153103 10.1016/S0140-6736(54)92713-0 1:STN:280:DyaG2c%2FntlSmtg%3D%3D
-
CO Carter BW Powell 1954 Two-generation pyloric stenosis Lancet 266 746 748 13153103 10.1016/S0140-6736(54)92713-0 1:STN:280:DyaG2c%2FntlSmtg%3D%3D
-
(1954)
Lancet
, vol.266
, pp. 746-748
-
-
Carter, C.O.1
Powell, B.W.2
-
3
-
-
0000285816
-
The inheritance of congenital pyloric stenosis
-
13691133 1:STN:280:DyaF3c%2FhtVCisg%3D%3D
-
CO Carter 1961 The inheritance of congenital pyloric stenosis Br Med Bull 17 251 254 13691133 1:STN:280:DyaF3c%2FhtVCisg%3D%3D
-
(1961)
Br Med Bull
, vol.17
, pp. 251-254
-
-
Carter, C.O.1
-
4
-
-
0027429307
-
De Lange syndrome: A clinical review of 310 individuals
-
DOI 10.1002/ajmg.1320470703
-
L Jackson AD Kline MA Barr S Koch 1993 De Lange syndrome: a clinical review of 310 individuals Am J Med Genet 47 940 946 8291537 10.1002/ajmg. 1320470703 1:STN:280:DyaK2c7itFSktg%3D%3D (Pubitemid 23323389)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 940-946
-
-
Jackson, L.1
Kline, A.D.2
Barr, M.A.3
Koch, S.4
-
5
-
-
0000139419
-
A newly recognised syndrome of multiple congenital anomalies
-
14119520 10.1016/S0022-3476(64)80264-X 1:STN:280:DyaF2c%2FnslamsA%3D%3D
-
DW Smith L Lemli JM Opitz 1964 A newly recognised syndrome of multiple congenital anomalies J Pediatr 64 210 217 14119520 10.1016/S0022-3476(64)80264-X 1:STN:280:DyaF2c%2FnslamsA%3D%3D
-
(1964)
J Pediatr
, vol.64
, pp. 210-217
-
-
Smith, D.W.1
Lemli, L.2
Opitz, J.M.3
-
6
-
-
0030025706
-
Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis
-
E Chung D Curtis G Chen PA Marsden R Twells W Xu M Gardiner 1996 Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis Am J Hum Genet 58 363 370 8571963 1:CAS:528:DyaK28XhsFWiur4%3D (Pubitemid 26038942)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.2
, pp. 363-370
-
-
Chung, E.1
Curtis, D.2
Chen, G.3
Marsden, P.A.4
Twells, R.5
Xu, W.6
Gardiner, M.7
-
7
-
-
33746522253
-
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity
-
DOI 10.1086/505952
-
F Capon A Reece R Ravindrarajah E Chung 2006 Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity Am J Hum Genet 79 378 382 16826529 10.1086/505952 1:CAS:528:DC%2BD28XnsVOktb0%3D (Pubitemid 44141837)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.2
, pp. 378-382
-
-
Capon, F.1
Reece, A.2
Ravindrarajah, R.3
Chung, E.4
-
8
-
-
50149098404
-
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
-
18478043 10.1038/ejhg.2008.86 1:CAS:528:DC%2BD1cXhtVWnsbrM
-
KV Everett F Capon C Georgoula BA Chioza A Reece M Jaswon A Pierro P Puri RM Gardiner EM Chung 2008 Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24 Eur J Hum Genet 16 1151 1154 18478043 10.1038/ejhg.2008.86 1:CAS:528:DC%2BD1cXhtVWnsbrM
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1151-1154
-
-
Everett, K.V.1
Capon, F.2
Georgoula, C.3
Chioza, B.A.4
Reece, A.5
Jaswon, M.6
Pierro, A.7
Puri, P.8
Gardiner, R.M.9
Chung, E.M.10
-
9
-
-
41149083499
-
Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identiWes loci on chromosomes 11q14-q22 and Xq23
-
18308288 10.1016/j.ajhg.2007.12.023 1:CAS:528:DC%2BD1cXksVGrurs%3D
-
KV Everett BA Chioza C Georgoula A Reece F Capon KA Parker C Cord-Udy P McKeigue S Mitton A Pierro P Puri HM Mitchison EM Chung RM Gardiner 2008 Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identiWes loci on chromosomes 11q14-q22 and Xq23 Am J Hum Genet 82 756 762 18308288 10.1016/j.ajhg.2007.12.023 1:CAS:528:DC%2BD1cXksVGrurs%3D
-
(2008)
Am J Hum Genet
, vol.82
, pp. 756-762
-
-
Everett, K.V.1
Chioza, B.A.2
Georgoula, C.3
Reece, A.4
Capon, F.5
Parker, K.A.6
Cord-Udy, C.7
McKeigue, P.8
Mitton, S.9
Pierro, A.10
Puri, P.11
Mitchison, H.M.12
Chung, E.M.13
Gardiner, R.M.14
-
10
-
-
71349084414
-
Infantile hypertrophic pyloric stenosis: Evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing
-
19701773 10.1007/s00439-009-0735-5 1:CAS:528:DC%2BD1MXhsVKgs7jL
-
KV Everett BA Chioza C Georgoula A Reece RM Gardiner EM Chung 2009 Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing Hum Genet 126 819 831 19701773 10.1007/s00439-009-0735-5 1:CAS:528:DC%2BD1MXhsVKgs7jL
-
(2009)
Hum Genet
, vol.126
, pp. 819-831
-
-
Everett, K.V.1
Chioza, B.A.2
Georgoula, C.3
Reece, A.4
Gardiner, R.M.5
Chung, E.M.6
-
11
-
-
33846915349
-
TRPC6
-
17217054 10.1007/978-3-540-34891-7-7 1:CAS:528:DC%2BD2sXjtlGrt7o%3D
-
A Dietrich T Gudermann 2007 TRPC6 Handb Exp Pharmacol 179 125 141 17217054 10.1007/978-3-540-34891-7-7 1:CAS:528:DC%2BD2sXjtlGrt7o%3D
-
(2007)
Handb Exp Pharmacol
, vol.179
, pp. 125-141
-
-
Dietrich, A.1
Gudermann, T.2
-
12
-
-
4444352981
-
2+ channels in pulmonary arterial smooth muscle cells: A novel mechanism of hypoxic pulmonary hypertension
-
DOI 10.1161/01.RES.0000138952.16382.ad
-
2+channels in pulmonary arterial smooth muscle cells: a novel mechanism of hypoxic pulmonary hypertension Circ Res 95 496 505 15256480 10.1161/01.RES.0000138952.16382.ad 1:CAS:528:DC%2BD2cXntVCrtLw%3D (Pubitemid 39180930)
-
(2004)
Circulation Research
, vol.95
, Issue.5
, pp. 496-505
-
-
Lin, M.-J.1
Leung, G.P.H.2
Zhang, W.-M.3
Yang, X.-R.4
Yip, K.-P.5
Tse, C.-M.6
Sham, J.S.K.7
-
13
-
-
4644290321
-
Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension
-
DOI 10.1073/pnas.0405908101
-
Y Yu I Fantozzi CV Remillard JW Landsberg N Kunichika O Platoshyn DD Tigno PA Thistlethwaite LJ Rubin JX Yuan 2004 Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension Proc Natl Acad Sci USA 101 13861 13866 15358862 10.1073/pnas.0405908101 1:CAS:528:DC%2BD2cXotVygtbo%3D (Pubitemid 39298498)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.38
, pp. 13861-13866
-
-
Yu, Y.1
Fantozzi, I.2
Remillard, C.V.3
Landsberg, J.W.4
Kunichika, N.5
Platoshyn, O.6
Tigno, D.D.7
Thistlethwaite, P.A.8
Rubin, L.J.9
Yuan, J.X.-J.10
-
14
-
-
70349432267
-
Deletion of TRPC4 and TRPC6 in mice impairs smooth muscle contraction and intestinal motility in vivo
-
19549525 10.1053/j.gastro.2009.06.046
-
VV Tsvilovskyy AV Zholos T Aberle SE Philipp A Dietrich MX Zhu L Birnbaumer M Freichel V Flockerzi 2009 Deletion of TRPC4 and TRPC6 in mice impairs smooth muscle contraction and intestinal motility in vivo Gastroenterology 137 1415 1424 19549525 10.1053/j.gastro.2009.06.046
-
(2009)
Gastroenterology
, vol.137
, pp. 1415-1424
-
-
Tsvilovskyy, V.V.1
Zholos, A.V.2
Aberle, T.3
Philipp, S.E.4
Dietrich, A.5
Zhu, M.X.6
Birnbaumer, L.7
Freichel, M.8
Flockerzi, V.9
-
15
-
-
0346850851
-
N-Linked Protein Glycosylation Is a Major Determinant for Basal TRPC3 and TRPC6 Channel Activity
-
DOI 10.1074/jbc.M302983200
-
A Dietrich M Mederos y Schnitzler J Emmel H Kalwa T Hofmann T Gudermann 2003 N-linked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity J Biol Chem 278 47842 47852 12970363 10.1074/jbc. M302983200 1:CAS:528:DC%2BD3sXpt1Cqu7o%3D (Pubitemid 37523232)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.48
, pp. 47842-47852
-
-
Dietrich, A.1
Mederos, Y.2
Schnitzler, M.3
Emmel, J.4
Kalwa, H.5
Hofmann, T.6
Gudermann, T.7
-
16
-
-
23344454472
-
-/- mice
-
DOI 10.1128/MCB.25.16.6980-6989.2005
-
A Dietrich YSM Mederos M Gollasch V Gross U Storch G Dubrovska M Obst E Yildirim B Salanova H Kalwa K Essin O Pinkenburg FC Luft T Gudermann L Birnbaumer 2005 Increased vascular smoothmuscle contractility in TRPC6 -/- mice Mol Cell Biol 25 6980 6989 16055711 10.1128/MCB.25.16.6980-6989.2005 1:CAS:528:DC%2BD2MXhtVejsrfM (Pubitemid 41105898)
-
(2005)
Molecular and Cellular Biology
, vol.25
, Issue.16
, pp. 6980-6989
-
-
Dietrich, A.1
Mederos, Y.2
Schnitzler, M.3
Gollasch, M.4
Gross, V.5
Storch, U.6
Dubrovska, G.7
Obst, M.8
Yildirim, E.9
Salanova, B.10
Kalwa, H.11
Essin, K.12
Pinkenburg, O.13
Luft, F.C.14
Gudermann, T.15
Birnbaumer, L.16
-
17
-
-
4644239523
-
Non-selective cationic channels of smooth muscle and the mammalian homologues of Drosophila TRP
-
DOI 10.1113/jphysiol.2004.068734
-
DJ Beech K Muraki R Flemming 2004 Non-selective cationic channels of smooth muscle and the mammalian homologues of Drosophila TRP J Physiol 559 685 706 15272031 1:CAS:528:DC%2BD2cXot1Kisbk%3D (Pubitemid 39276160)
-
(2004)
Journal of Physiology
, vol.559
, Issue.3
, pp. 685-706
-
-
Beech, D.J.1
Muraki, K.2
Flemming, R.3
-
18
-
-
23144443599
-
Inhibition of genes expression of SARS coronavirus by synthetic small interfering RNAs
-
DOI 10.1038/sj.cr.7290286
-
YY Shi L He 2005 SHEsis, A powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci Cell Res 15 97 98 15740637 10.1038/sj.cr.7290286 1:CAS:528:DC%2BD2MXksFynsro%3D (Pubitemid 41653943)
-
(2005)
Cell Research
, vol.15
, Issue.3
, pp. 193-200
-
-
Shi, Y.1
Yang, D.H.2
Xiong, J.3
Jia, J.4
Huang, B.5
Jin, Y.X.6
-
19
-
-
65449178366
-
Hypertrophic pyloric stenosis and pulmonary hypertension in a neonate. A common mechanism?
-
19302103 10.1111/j.1651-2227.2009.01270.x 1:STN:280: DC%2BD1MzntVWmsw%3D%3D
-
AG Brouwers CM Waals-van de Wal 2009 Hypertrophic pyloric stenosis and pulmonary hypertension in a neonate. A common mechanism? Acta Paediatr 98 1064 1065 19302103 10.1111/j.1651-2227.2009.01270.x 1:STN:280:DC%2BD1MzntVWmsw%3D%3D
-
(2009)
Acta Paediatr
, vol.98
, pp. 1064-1065
-
-
Brouwers, A.G.1
Waals-Van De Wal, C.M.2
-
20
-
-
66349095797
-
A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension
-
19380626 10.1161/CIRCULATIONAHA.108.782458 1:CAS:528:DC%2BD1MXltV2jsrk%3D
-
Y Yu SH Keller CV Remillard O Safrina A Nicholson SL Zhang W Jiang N Vangala JW Landsberg JY Wang PA Thistlethwaite RN Channick IM Robbins JE Loyd HA Ghofrani F Grimminger RT Schermuly MD Cahalan LJ Rubin JX Yuan 2009 A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension Circulation 119 2313 2322 19380626 10.1161/CIRCULATIONAHA.108.782458 1:CAS:528:DC%2BD1MXltV2jsrk%3D
-
(2009)
Circulation
, vol.119
, pp. 2313-2322
-
-
Yu, Y.1
Keller, S.H.2
Remillard, C.V.3
Safrina, O.4
Nicholson, A.5
Zhang, S.L.6
Jiang, W.7
Vangala, N.8
Landsberg, J.W.9
Wang, J.Y.10
Thistlethwaite, P.A.11
Channick, R.N.12
Robbins, I.M.13
Loyd, J.E.14
Ghofrani, H.A.15
Grimminger, F.16
Schermuly, R.T.17
Cahalan, M.D.18
Rubin, L.J.19
Yuan, J.X.20
more..
-
21
-
-
70450164319
-
A novel TRPC6 mutation that causes childhood FSGS
-
19936226 10.1371/journal.pone.0007771
-
SF Heeringa CC Möller J Du L Yue B Hinkes G Chernin CN Vlangos PF Hoyer J Reiser F Hildebrandt 2009 A novel TRPC6 mutation that causes childhood FSGS PLoS One 4 e7771 19936226 10.1371/journal.pone.0007771
-
(2009)
PLoS One
, vol.4
, pp. 7771
-
-
Heeringa, S.F.1
Möller, C.C.2
Du, J.3
Yue, L.4
Hinkes, B.5
Chernin, G.6
Vlangos, C.N.7
Hoyer, P.F.8
Reiser, J.9
Hildebrandt, F.10
-
22
-
-
20844461826
-
Medicine: A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
-
DOI 10.1126/science.1106215
-
MP Winn PJ Conlon KL Lynn MK Farrington T Creazzo AF Hawkins N Daskalakis SY Kwan S Ebersviller JL Burchette MA Pericak-Vance DN Howell JM Vance PB Rosenberg 2005 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis Science 308 1801 1804 15879175 10.1126/science. 1106215 1:CAS:528:DC%2BD2MXltFemtrk%3D (Pubitemid 40848011)
-
(2005)
Science
, vol.308
, Issue.5729
, pp. 1801-1804
-
-
Winn, M.P.1
Conlon, P.J.2
Lynn, K.L.3
Farrington, M.K.4
Creazzo, T.5
Hawkins, A.F.6
Daskalakis, N.7
Kwan, S.Y.8
Ebersviller, S.9
Burchette, J.L.10
Pericak-Vance, M.A.11
Howell, D.N.12
Vance, J.M.13
Rosenberg, P.B.14
|