-
1
-
-
84919430727
-
Congenital heart disease and adverse perinatal outcome in fetuses with confirmed isolated single functioning umbilical artery
-
PID: 25020205
-
Araujo Júnior E, Palma-Dias R, Martins WP, Reidy K, da Silva Costa F (2015) Congenital heart disease and adverse perinatal outcome in fetuses with confirmed isolated single functioning umbilical artery. J Obstet Gynaecol 35:85–87
-
(2015)
J Obstet Gynaecol
, vol.35
, pp. 85-87
-
-
Araujo Júnior, E.1
Palma-Dias, R.2
Martins, W.P.3
Reidy, K.4
da Silva, C.F.5
-
5
-
-
0032437107
-
Transcriptional control of muscle development by myocyte enhancer factor-2 (MEF2) proteins
-
COI: 1:CAS:528:DyaK1cXnvFyju7o%3D, PID: 9891782
-
Black BL, Olson EN (1998) Transcriptional control of muscle development by myocyte enhancer factor-2 (MEF2) proteins. Annu Rev Cell Dev Biol 14:167–196
-
(1998)
Annu Rev Cell Dev Biol
, vol.14
, pp. 167-196
-
-
Black, B.L.1
Olson, E.N.2
-
6
-
-
0031447741
-
Myocyte enhancer factor 2 (MEF2)
-
COI: 1:CAS:528:DyaK1cXitlOgsrY%3D, PID: 9570140
-
Brand NJ (1997) Myocyte enhancer factor 2 (MEF2). Int J Biochem Cell Biol 29:1467–1470
-
(1997)
Int J Biochem Cell Biol
, vol.29
, pp. 1467-1470
-
-
Brand, N.J.1
-
7
-
-
84905924731
-
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
-
COI: 1:CAS:528:DC%2BC2cXht1Oqs7jO, PID: 25087610
-
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P (2014) Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 95:173–182
-
(2014)
Am J Hum Genet
, vol.95
, pp. 173-182
-
-
Campbell, I.M.1
Yuan, B.2
Robberecht, C.3
Pfundt, R.4
Szafranski, P.5
McEntagart, M.E.6
Nagamani, S.C.7
Erez, A.8
Bartnik, M.9
Wiśniowiecka-Kowalnik, B.10
Plunkett, K.S.11
Pursley, A.N.12
Kang, S.H.13
Bi, W.14
Lalani, S.R.15
Bacino, C.A.16
Vast, M.17
Marks, K.18
Patton, M.19
Olofsson, P.20
Patel, A.21
Veltman, J.A.22
Cheung, S.W.23
Shaw, C.A.24
Vissers, L.E.25
Vermeesch, J.R.26
Lupski, J.R.27
Stankiewicz, P.28
more..
-
8
-
-
84937521691
-
Somatic mosaicism: implications for disease and transmission genetics
-
COI: 1:CAS:528:DC%2BC2MXmsFSjtb4%3D, PID: 25910407
-
Campbell IM, Shaw CA, Stankiewicz P, Lupski JR (2015) Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31(7):382–392
-
(2015)
Trends Genet
, vol.31
, Issue.7
, pp. 382-392
-
-
Campbell, I.M.1
Shaw, C.A.2
Stankiewicz, P.3
Lupski, J.R.4
-
9
-
-
0035906259
-
Structural characterization of the mouse Foxf1a gene
-
COI: 1:CAS:528:DC%2BD3MXislaht7o%3D, PID: 11313147
-
Chang VW, Ho Y (2001) Structural characterization of the mouse Foxf1a gene. Gene 267:201–211
-
(2001)
Gene
, vol.267
, pp. 201-211
-
-
Chang, V.W.1
Ho, Y.2
-
10
-
-
0035958081
-
Cloning and characterization of LUN, a novel ring finger protein that is highly expressed in lung and specifically binds to a palindromic sequence
-
COI: 1:CAS:528:DC%2BD3MXjt12rs7w%3D, PID: 11278651
-
Chu D, Kakazu N, Gorrin-Rivas MJ, Lu HP, Kawata M, Abe T, Ueda K, Adachi Y (2001) Cloning and characterization of LUN, a novel ring finger protein that is highly expressed in lung and specifically binds to a palindromic sequence. J Biol Chem 276:14004–14013
-
(2001)
J Biol Chem
, vol.276
, pp. 14004-14013
-
-
Chu, D.1
Kakazu, N.2
Gorrin-Rivas, M.J.3
Lu, H.P.4
Kawata, M.5
Abe, T.6
Ueda, K.7
Adachi, Y.8
-
11
-
-
84944065342
-
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis
-
PID: 26462560
-
Dello Russo P, Franzoni A, Baldan F, Puppin C, De Maglio G, Pittini C, Cattarossi L, Pizzolitto S, Damante G (2015) A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis. BMC Med Genet 16:94
-
(2015)
BMC Med Genet
, vol.16
, pp. 94
-
-
Dello Russo, P.1
Franzoni, A.2
Baldan, F.3
Puppin, C.4
De Maglio, G.5
Pittini, C.6
Cattarossi, L.7
Pizzolitto, S.8
Damante, G.9
-
12
-
-
84930973409
-
Genomic and epigenetic complexity of the FOXF1 locus in 16q24.1: implications for development and disease
-
COI: 1:CAS:528:DC%2BC2MXks1ymtb4%3D, PID: 26085809
-
Dharmadhikari AV, Szafranski P, Kalinichenko VV, Stankiewicz P (2015) Genomic and epigenetic complexity of the FOXF1 locus in 16q24.1: implications for development and disease. Curr Genomics 16:107–116
-
(2015)
Curr Genomics
, vol.16
, pp. 107-116
-
-
Dharmadhikari, A.V.1
Szafranski, P.2
Kalinichenko, V.V.3
Stankiewicz, P.4
-
13
-
-
84861095603
-
Topological domains in mammalian genomes identified by analysis of chromatin interactions
-
COI: 1:CAS:528:DC%2BC38XlslShurw%3D, PID: 22495300
-
Dixon JR, Selvaraj S, Yue F, Kim A, Li Y, Shen Y, Hu M, Liu JS, Ren B (2012) Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature 485:376–380
-
(2012)
Nature
, vol.485
, pp. 376-380
-
-
Dixon, J.R.1
Selvaraj, S.2
Yue, F.3
Kim, A.4
Li, Y.5
Shen, Y.6
Hu, M.7
Liu, J.S.8
Ren, B.9
-
14
-
-
84890559595
-
Long non-coding RNAs: new players in cell differentiation and development
-
COI: 1:CAS:528:DC%2BC3sXhvVKgtrzO, PID: 24296535
-
Fatica A, Bozzoni I (2014) Long non-coding RNAs: new players in cell differentiation and development. Nat Rev Genet 15:7–21
-
(2014)
Nat Rev Genet
, vol.15
, pp. 7-21
-
-
Fatica, A.1
Bozzoni, I.2
-
15
-
-
79960530899
-
Genomic imprinting: the emergence of an epigenetic paradigm
-
COI: 1:CAS:528:DC%2BC3MXovFyjtbs%3D, PID: 21765458
-
Ferguson-Smith AC (2011) Genomic imprinting: the emergence of an epigenetic paradigm. Nat Rev Genet 12:565–575
-
(2011)
Nat Rev Genet
, vol.12
, pp. 565-575
-
-
Ferguson-Smith, A.C.1
-
16
-
-
84919767487
-
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins
-
PID: 25052575
-
Galambos C, Sims-Lucas S, Ali N, Gien J, Dishop MK, Abman SH (2015) Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. Thorax 70:84–85
-
(2015)
Thorax
, vol.70
, pp. 84-85
-
-
Galambos, C.1
Sims-Lucas, S.2
Ali, N.3
Gien, J.4
Dishop, M.K.5
Abman, S.H.6
-
17
-
-
84927610477
-
Prenatal diagnosis of cystic hygroma related to a deletion of 16q24.1 with haploinsufficiency of FOXF1 and FOXC2 genes
-
PID: 23074687
-
Garabedian MJ, Wallerstein D, Medina N, Byrne J, Wallerstein RJ (2012) Prenatal diagnosis of cystic hygroma related to a deletion of 16q24.1 with haploinsufficiency of FOXF1 and FOXC2 genes. Case Rep Genet 2012:490408
-
(2012)
Case Rep Genet
, vol.2012
, pp. 490408
-
-
Garabedian, M.J.1
Wallerstein, D.2
Medina, N.3
Byrne, J.4
Wallerstein, R.J.5
-
18
-
-
84906994092
-
Known unknowns for allele-specific expression and genomic imprinting effects
-
PID: 25343032
-
Gregg C (2014) Known unknowns for allele-specific expression and genomic imprinting effects. F1000Prime Rep 6:75
-
(2014)
F1000Prime Rep
, vol.6
, pp. 75
-
-
Gregg, C.1
-
19
-
-
84873829893
-
The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse
-
COI: 1:CAS:528:DC%2BC3sXhs1Cnu7k%3D, PID: 23369715
-
Grote P, Wittler L, Hendrix D, Koch F, Währisch S, Beisaw A, Macura K, Bläss G, Kellis M, Werber M, Herrmann BG (2013) The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse. Dev Cell 24:206–214
-
(2013)
Dev Cell
, vol.24
, pp. 206-214
-
-
Grote, P.1
Wittler, L.2
Hendrix, D.3
Koch, F.4
Währisch, S.5
Beisaw, A.6
Macura, K.7
Bläss, G.8
Kellis, M.9
Werber, M.10
Herrmann, B.G.11
-
20
-
-
84936762916
-
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
-
COI: 1:CAS:528:DC%2BC2MXhsVylurjN, PID: 25908615
-
Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR (2015) Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24:4061–4077
-
(2015)
Hum Mol Genet
, vol.24
, pp. 4061-4077
-
-
Gu, S.1
Yuan, B.2
Campbell, I.M.3
Beck, C.R.4
Carvalho, C.M.5
Nagamani, S.C.6
Erez, A.7
Patel, A.8
Bacino, C.A.9
Shaw, C.A.10
Stankiewicz, P.11
Cheung, S.W.12
Bi, W.13
Lupski, J.R.14
-
21
-
-
84939246295
-
CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function
-
COI: 1:CAS:528:DC%2BC2MXhtlCisLnI, PID: 26276636
-
Guo Y, Xu Q, Canzio D, Shou J, Li J, Gorkin DU, Jung I, Wu H, Zhai Y, Tang Y, Lu Y, Wu Y, Jia Z, Li W, Zhang MQ, Ren B, Krainer AR, Maniatis T, Wu Q (2015) CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function. Cell 162:900–910
-
(2015)
Cell
, vol.162
, pp. 900-910
-
-
Guo, Y.1
Xu, Q.2
Canzio, D.3
Shou, J.4
Li, J.5
Gorkin, D.U.6
Jung, I.7
Wu, H.8
Zhai, Y.9
Tang, Y.10
Lu, Y.11
Wu, Y.12
Jia, Z.13
Li, W.14
Zhang, M.Q.15
Ren, B.16
Krainer, A.R.17
Maniatis, T.18
Wu, Q.19
-
22
-
-
73949137628
-
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
-
COI: 1:CAS:528:DC%2BD1MXhsVaju7rI, PID: 19647838
-
Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS (2009) Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. J Pediatr 155:854–859
-
(2009)
J Pediatr
, vol.155
, pp. 854-859
-
-
Hamvas, A.1
Nogee, L.M.2
Wegner, D.J.3
Depass, K.4
Christodoulou, J.5
Bennetts, B.6
McQuade, L.R.7
Gray, P.H.8
Deterding, R.R.9
Carroll, T.R.10
Kammesheidt, A.11
Kasch, L.M.12
Kulkarni, S.13
Cole, F.S.14
-
23
-
-
84874763714
-
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
-
COI: 1:CAS:528:DC%2BC3sXlt1Wls7g%3D, PID: 23335808
-
Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND (2013) Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet 50:163–173
-
(2013)
J Med Genet
, vol.50
, pp. 163-173
-
-
Handrigan, G.R.1
Chitayat, D.2
Lionel, A.C.3
Pinsk, M.4
Vaags, A.K.5
Marshall, C.R.6
Dyack, S.7
Escobar, L.F.8
Fernandez, B.A.9
Stegman, J.C.10
Rosenfeld, J.A.11
Shaffer, L.G.12
Goodenberger, M.13
Hodge, J.C.14
Cain, J.E.15
Babul-Hirji, R.16
Stavropoulos, D.J.17
Yiu, V.18
Scherer, S.W.19
Rosenblum, N.D.20
more..
-
24
-
-
67651098662
-
Mechanisms of change in gene copy number
-
COI: 1:CAS:528:DC%2BD1MXos1WjsLs%3D, PID: 19597530
-
Hastings PJ, Lupski JR, Rosenberg SM, Ira G (2009) Mechanisms of change in gene copy number. Nat Rev Genet 10:551–564
-
(2009)
Nat Rev Genet
, vol.10
, pp. 551-564
-
-
Hastings, P.J.1
Lupski, J.R.2
Rosenberg, S.M.3
Ira, G.4
-
25
-
-
84860555735
-
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
-
COI: 1:CAS:528:DC%2BC38XpvFCntLY%3D, PID: 21457232
-
Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O (2012) Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet 81:542–554
-
(2012)
Clin Genet
, vol.81
, pp. 542-554
-
-
Iascone, M.1
Ciccone, R.2
Galletti, L.3
Marchetti, D.4
Seddio, F.5
Lincesso, A.R.6
Pezzoli, L.7
Vetro, A.8
Barachetti, D.9
Boni, L.10
Federici, D.11
Soto, A.M.12
Comas, J.V.13
Ferrazzi, P.14
Zuffardi, O.15
-
26
-
-
84878522936
-
The majority of primate-specific regulatory sequences are derived from transposable elements
-
Jacques PÉ, Jeyakani J, Bourque G (2015) The majority of primate-specific regulatory sequences are derived from transposable elements. PLoS Genet 9:e1003504
-
(2015)
PLoS Genet
, vol.9
, pp. e1003504
-
-
Jacques, P.É.1
Jeyakani, J.2
Bourque, G.3
-
27
-
-
84869192721
-
Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia
-
COI: 1:CAS:528:DC%2BC38XhvFShsL7L, PID: 23063659
-
Joza S, Wang J, Fox E, Hillman V, Ackerley C, Post M (2012) Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. Am J Pathol 181:2003–2017
-
(2012)
Am J Pathol
, vol.181
, pp. 2003-2017
-
-
Joza, S.1
Wang, J.2
Fox, E.3
Hillman, V.4
Ackerley, C.5
Post, M.6
-
28
-
-
0034939276
-
Diverse gene expression and function of semaphorins in developing lung: positive and negative regulatory roles of semaphorins in lung branching morphogenesis
-
COI: 1:CAS:528:DC%2BD3MXlvFSqu7c%3D, PID: 11442635
-
Kagoshima M, Ito T, Kitamura H, Goshima Y (2001) Diverse gene expression and function of semaphorins in developing lung: positive and negative regulatory roles of semaphorins in lung branching morphogenesis. Genes Cells 6:559–571
-
(2001)
Genes Cells
, vol.6
, pp. 559-571
-
-
Kagoshima, M.1
Ito, T.2
Kitamura, H.3
Goshima, Y.4
-
29
-
-
0035000762
-
Differential expression of forkhead box transcription factors following butylated hydroxytoluene lung injury
-
COI: 1:CAS:528:DC%2BD3MXjtV2jsbw%3D, PID: 11238010
-
Kalinichenko VV, Lim L, Shin B, Costa RH (2001) Differential expression of forkhead box transcription factors following butylated hydroxytoluene lung injury. Am J Physiol Lung Cell Mol Physiol 280:L695–L704
-
(2001)
Am J Physiol Lung Cell Mol Physiol
, vol.280
, pp. L695-L704
-
-
Kalinichenko, V.V.1
Lim, L.2
Shin, B.3
Costa, R.H.4
-
30
-
-
27844508629
-
Functional characterization of evolutionarily conserved DNA regions in Forkhead box f1 gene locus
-
COI: 1:CAS:528:DC%2BD2MXhtF2is77K, PID: 16144835
-
Kim IM, Zhou Y, Ramakrishna S, Hughes DE, Solway J, Costa RH, Kalinichenko VV (2005) Functional characterization of evolutionarily conserved DNA regions in Forkhead box f1 gene locus. J Biol Chem 280:37908–37916
-
(2005)
J Biol Chem
, vol.280
, pp. 37908-37916
-
-
Kim, I.M.1
Zhou, Y.2
Ramakrishna, S.3
Hughes, D.E.4
Solway, J.5
Costa, R.H.6
Kalinichenko, V.V.7
-
31
-
-
0034118887
-
First confirmed case with paternal uniparental disomy of chromosome 16
-
COI: 1:STN:280:DC%2BD3c3itFamug%3D%3D, PID: 10756340
-
Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I (2000) First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet 91:190–191
-
(2000)
Am J Med Genet
, vol.91
, pp. 190-191
-
-
Kohlhase, J.1
Janssen, B.2
Weidenauer, K.3
Harms, K.4
Bartels, I.5
-
32
-
-
84929379150
-
Diverse Phenotypes and specific transcription patterns in twenty mouse lines with ablated lincRNAs
-
PID: 25909911
-
Lai KM, Gong G, Atanasio A, Rojas J, Quispe J, Posca J, White D, Huang M, Fedorova D, Grant C, Miloscio L, Droguett G, Poueymirou WT, Auerbach W, Yancopoulos GD, Frendewey D, Rinn J, Valenzuela DM (2015) Diverse Phenotypes and specific transcription patterns in twenty mouse lines with ablated lincRNAs. PLoS One 10:e0125522
-
(2015)
PLoS One
, vol.10
, pp. e0125522
-
-
Lai, K.M.1
Gong, G.2
Atanasio, A.3
Rojas, J.4
Quispe, J.5
Posca, J.6
White, D.7
Huang, M.8
Fedorova, D.9
Grant, C.10
Miloscio, L.11
Droguett, G.12
Poueymirou, W.T.13
Auerbach, W.14
Yancopoulos, G.D.15
Frendewey, D.16
Rinn, J.17
Valenzuela, D.M.18
-
33
-
-
0026080780
-
Misalignment of pulmonary veins and alveolar capillary dysplasia
-
COI: 1:STN:280:DyaK3M7psFWgsA%3D%3D, PID: 2014189
-
Langston C (1991) Misalignment of pulmonary veins and alveolar capillary dysplasia. Pediatr Pathol 11:163–170
-
(1991)
Pediatr Pathol
, vol.11
, pp. 163-170
-
-
Langston, C.1
-
34
-
-
37249059981
-
Computational and experimental identification of novel human imprinted genes
-
COI: 1:CAS:528:DC%2BD2sXhsVGhsLjP, PID: 18055845
-
Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ (2007) Computational and experimental identification of novel human imprinted genes. Genome Res 17:1723–1730
-
(2007)
Genome Res
, vol.17
, pp. 1723-1730
-
-
Luedi, P.P.1
Dietrich, F.S.2
Weidman, J.R.3
Bosko, J.M.4
Jirtle, R.L.5
Hartemink, A.J.6
-
35
-
-
84930091577
-
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
-
PID: 25959774
-
Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S (2015) Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell 161:1012–1025
-
(2015)
Cell
, vol.161
, pp. 1012-1025
-
-
Lupiáñez, D.G.1
Kraft, K.2
Heinrich, V.3
Krawitz, P.4
Brancati, F.5
Klopocki, E.6
Horn, D.7
Kayserili, H.8
Opitz, J.M.9
Laxova, R.10
Santos-Simarro, F.11
Gilbert-Dussardier, B.12
Wittler, L.13
Borschiwer, M.14
Haas, S.A.15
Osterwalder, M.16
Franke, M.17
Timmermann, B.18
Hecht, J.19
Spielmann, M.20
Visel, A.21
Mundlos, S.22
more..
-
36
-
-
0034945359
-
Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signalling, causes lung and foregut malformations
-
COI: 1:CAS:528:DC%2BD3MXltFagsLY%3D, PID: 11493558
-
Mahlapuu M, Enerback S, Carlsson P (2001) Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signalling, causes lung and foregut malformations. Development 128:2397–2406
-
(2001)
Development
, vol.128
, pp. 2397-2406
-
-
Mahlapuu, M.1
Enerback, S.2
Carlsson, P.3
-
37
-
-
4444238706
-
Expression of LUN gene that encodes a novel RING finger protein is correlated with development and progression of non-small cell lung cancer
-
PID: 15364129
-
Oyanagi H, Takenaka K, Ishikawa S, Kawano Y, Adachi Y, Ueda K, Wada H, Tanaka F (2004) Expression of LUN gene that encodes a novel RING finger protein is correlated with development and progression of non-small cell lung cancer. Lung Cancer 46:21–28
-
(2004)
Lung Cancer
, vol.46
, pp. 21-28
-
-
Oyanagi, H.1
Takenaka, K.2
Ishikawa, S.3
Kawano, Y.4
Adachi, Y.5
Ueda, K.6
Wada, H.7
Tanaka, F.8
-
38
-
-
84875527474
-
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins
-
PID: 23444129
-
Parris T, Nik AM, Kotecha S, Langston C, Helou K, Platt C, Carlsson P (2013) Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A 161A:764–770
-
(2013)
Am J Med Genet A
, vol.161A
, pp. 764-770
-
-
Parris, T.1
Nik, A.M.2
Kotecha, S.3
Langston, C.4
Helou, K.5
Platt, C.6
Carlsson, P.7
-
39
-
-
84960441467
-
Prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins
-
PID: 26703872
-
Prothro SL, Plosa E, Markham M, Szafranski P, Stankiewicz P, Killen SA (2016) Prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. J Pediatr 170:317–318
-
(2016)
J Pediatr
, vol.170
, pp. 317-318
-
-
Prothro, S.L.1
Plosa, E.2
Markham, M.3
Szafranski, P.4
Stankiewicz, P.5
Killen, S.A.6
-
40
-
-
84982274475
-
-
Reiter J, Szafranski P, Breuer O, Perles Z, Dagan T, Stankiewicz P, Kerem E (2016) Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. Pediatr Pulmonol
-
Reiter J, Szafranski P, Breuer O, Perles Z, Dagan T, Stankiewicz P, Kerem E (2016) Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. Pediatr Pulmonol (in press)
-
-
-
-
41
-
-
84891757415
-
Multiple knockout mouse models reveal lincRNAs are required for life and brain development
-
PID: 24381249
-
Sauvageau M, Goff LA, Lodato S, Bonev B, Groff AF, Gerhardinger C, Sanchez-Gomez DB, Hacisuleyman E, Li E, Spence M, Liapis SC, Mallard W, Morse M, Swerdel MR, D’Ecclessis MF, Moore JC, Lai V, Gong G, Yancopoulos GD, Frendewey D, Kellis M, Hart RP, Valenzuela DM, Arlotta P, Rinn JL (2013) Multiple knockout mouse models reveal lincRNAs are required for life and brain development. Elife 2:e01749
-
(2013)
Elife
, vol.2
, pp. e01749
-
-
Sauvageau, M.1
Goff, L.A.2
Lodato, S.3
Bonev, B.4
Groff, A.F.5
Gerhardinger, C.6
Sanchez-Gomez, D.B.7
Hacisuleyman, E.8
Li, E.9
Spence, M.10
Liapis, S.C.11
Mallard, W.12
Morse, M.13
Swerdel, M.R.14
D’Ecclessis, M.F.15
Moore, J.C.16
Lai, V.17
Gong, G.18
Yancopoulos, G.D.19
Frendewey, D.20
Kellis, M.21
Hart, R.P.22
Valenzuela, D.M.23
Arlotta, P.24
Rinn, J.L.25
more..
-
42
-
-
7444265829
-
Expanding the phenotype of alveolar capillary dysplasia (ACD)
-
PID: 15520767
-
Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA (2004) Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 145:646–651
-
(2004)
J Pediatr
, vol.145
, pp. 646-651
-
-
Sen, P.1
Thakur, N.2
Stockton, D.W.3
Langston, C.4
Bejjani, B.A.5
-
43
-
-
84875050683
-
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human
-
COI: 1:CAS:528:DC%2BC3sXktFShsrY%3D, PID: 22990143
-
Sen P, Gerychova R, Janku P, Jezova M, Valaskova I, Navarro C, Silva I, Langston C, Welty S, Belmont J, Stankiewicz P (2013a) A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet 21:474–477
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 474-477
-
-
Sen, P.1
Gerychova, R.2
Janku, P.3
Jezova, M.4
Valaskova, I.5
Navarro, C.6
Silva, I.7
Langston, C.8
Welty, S.9
Belmont, J.10
Stankiewicz, P.11
-
44
-
-
84878146978
-
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
-
COI: 1:CAS:528:DC%2BC3sXotFyhtrY%3D, PID: 23505205
-
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P (2013b) Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat 34:801–811
-
(2013)
Hum Mutat
, vol.34
, pp. 801-811
-
-
Sen, P.1
Yang, Y.2
Navarro, C.3
Silva, I.4
Szafranski, P.5
Kolodziejska, K.E.6
Dharmadhikari, A.V.7
Mostafa, H.8
Kozakewich, H.9
Kearney, D.10
Cahill, J.B.11
Whitt, M.12
Bilic, M.13
Margraf, L.14
Charles, A.15
Goldblatt, J.16
Gibson, K.17
Lantz, P.E.18
Garvin, A.J.19
Petty, J.20
Kiblawi, Z.21
Zuppan, C.22
McConkie-Rosell, A.23
McDonald, M.T.24
Peterson-Carmichael, S.L.25
Gaede, J.T.26
Shivanna, B.27
Schady, D.28
Friedlich, P.S.29
Hays, S.R.30
Palafoll, I.V.31
Siebers-Renelt, U.32
Bohring, A.33
Finn, L.S.34
Siebert, J.R.35
Galambos, C.36
Nguyen, L.37
Riley, M.38
Chassaing, N.39
Vigouroux, A.40
Rocha, G.41
Fernandes, S.42
Brumbaugh, J.43
Roberts, K.44
Ho-Ming, L.45
Lo, I.F.46
Lam, S.47
Gerychova, R.48
Jezova, M.49
Valaskova, I.50
Fellmann, F.51
Afshar, K.52
Giannoni, E.53
Muhlethaler, V.54
Liang, J.55
Beckmann, J.S.56
Lioy, J.57
Deshmukh, H.58
Srinivasan, L.59
Swarr, D.T.60
Sloman, M.61
Shaw-Smith, C.62
van Loon, R.L.63
Hagman, C.64
Sznajer, Y.65
Barrea, C.66
Galant, C.67
Detaille, T.68
Wambach, J.A.69
Cole, F.S.70
Hamvas, A.71
Prince, L.S.72
Diderich, K.E.73
Brooks, A.S.74
Verdijk, R.M.75
Ravindranathan, H.76
Sugo, E.77
Mowat, D.78
Baker, M.L.79
Langston, C.80
Welty, S.81
Stankiewicz, P.82
more..
-
45
-
-
84899530145
-
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in Foxf1 heterozygous knockout mice
-
PID: 24722050
-
Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, Thevananther S, Langston C, Szafranski P, Justice MJ, Kalinichenko VV, Gambin A, Belmont J, Stankiewicz P (2014) Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in Foxf1 heterozygous knockout mice. PLoS One 9:e94390
-
(2014)
PLoS One
, vol.9
, pp. e94390
-
-
Sen, P.1
Dharmadhikari, A.V.2
Majewski, T.3
Mohammad, M.A.4
Kalin, T.V.5
Zabielska, J.6
Ren, X.7
Bray, M.8
Brown, H.M.9
Welty, S.10
Thevananther, S.11
Langston, C.12
Szafranski, P.13
Justice, M.J.14
Kalinichenko, V.V.15
Gambin, A.16
Belmont, J.17
Stankiewicz, P.18
-
46
-
-
66449113643
-
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
-
COI: 1:CAS:528:DC%2BD1MXhsFWht7%2FN, PID: 19500772
-
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O’Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84:780–791
-
(2009)
Am J Hum Genet
, vol.84
, pp. 780-791
-
-
Stankiewicz, P.1
Sen, P.2
Bhatt, S.S.3
Storer, M.4
Xia, Z.5
Bejjani, B.A.6
Ou, Z.7
Wiszniewska, J.8
Driscoll, D.J.9
Maisenbacher, M.K.10
Bolivar, J.11
Bauer, M.12
Zackai, E.H.13
McDonald-McGinn, D.14
Nowaczyk, M.M.15
Murray, M.16
Hustead, V.17
Mascotti, K.18
Schultz, R.19
Hallam, L.20
McRae, D.21
Nicholson, A.G.22
Newbury, R.23
Durham-O’Donnell, J.24
Knight, G.25
Kini, U.26
Shaikh, T.H.27
Martin, V.28
Tyreman, M.29
Simonic, I.30
Willatt, L.31
Paterson, J.32
Mehta, S.33
Rajan, D.34
Fitzgerald, T.35
Gribble, S.36
Prigmore, E.37
Patel, A.38
Shaffer, L.G.39
Carter, N.P.40
Cheung, S.W.41
Langston, C.42
Shaw-Smith, C.43
more..
-
47
-
-
84872001824
-
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
-
COI: 1:CAS:528:DC%2BC3sXnvV2ltg%3D%3D, PID: 23034409
-
Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF 3rd, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P (2013a) Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res 23:23–33
-
(2013)
Genome Res
, vol.23
, pp. 23-33
-
-
Szafranski, P.1
Dharmadhikari, A.V.2
Brosens, E.3
Gurha, P.4
Kolodziejska, K.E.5
Zhishuo, O.6
Dittwald, P.7
Majewski, T.8
Mohan, K.N.9
Chen, B.10
Person, R.E.11
Tibboel, D.12
de Klein, A.13
Pinner, J.14
Chopra, M.15
Malcolm, G.16
Peters, G.17
Arbuckle, S.18
Guiang, S.F.19
Hustead, V.A.20
Jessurun, J.21
Hirsch, R.22
Witte, D.P.23
Maystadt, I.24
Sebire, N.25
Fisher, R.26
Langston, C.27
Sen, P.28
Stankiewicz, P.29
more..
-
48
-
-
84885422260
-
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins
-
COI: 1:CAS:528:DC%2BC3sXhs1Wgu7vO, PID: 23943206
-
Szafranski P, Yang Y, Nelson MU, Bizzarro MJ, Morotti RA, Langston C, Stankiewicz P (2013b) Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Mutat 34:1467–1471
-
(2013)
Hum Mutat
, vol.34
, pp. 1467-1471
-
-
Szafranski, P.1
Yang, Y.2
Nelson, M.U.3
Bizzarro, M.J.4
Morotti, R.A.5
Langston, C.6
Stankiewicz, P.7
-
49
-
-
84904423684
-
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins
-
PID: 24842713
-
Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P (2014) Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A 164A:2013–2019
-
(2014)
Am J Med Genet A
, vol.164A
, pp. 2013-2019
-
-
Szafranski, P.1
Dharmadhikari, A.V.2
Wambach, J.A.3
Towe, C.T.4
White, F.V.5
Grady, R.M.6
Eghtesady, P.7
Cole, F.S.8
Deutsch, G.9
Sen, P.10
Stankiewicz, P.11
-
50
-
-
84896913688
-
Prenatal detection of cardiac anomalies in fetuses with single umbilical artery: diagnostic accuracy comparison of maternal-fetal-medicine and pediatric cardiologist
-
PID: 24719766
-
Tasha I, Brook R, Frasure H, Lazebnik N (2014) Prenatal detection of cardiac anomalies in fetuses with single umbilical artery: diagnostic accuracy comparison of maternal-fetal-medicine and pediatric cardiologist. J Pregnancy 2014:265421
-
(2014)
J Pregnancy
, vol.2014
, pp. 265421
-
-
Tasha, I.1
Brook, R.2
Frasure, H.3
Lazebnik, N.4
-
51
-
-
61649087689
-
ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing
-
COI: 1:CAS:528:DC%2BD1MXltFSmsrs%3D, PID: 19285943
-
Warzecha CC, Sato TK, Nabet B, Hogenesch JB, Carstens RP (2009) ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing. Mol Cell 33:591–601
-
(2009)
Mol Cell
, vol.33
, pp. 591-601
-
-
Warzecha, C.C.1
Sato, T.K.2
Nabet, B.3
Hogenesch, J.B.4
Carstens, R.P.5
-
52
-
-
0036807443
-
Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies
-
COI: 1:STN:280:DC%2BD38votFOrsA%3D%3D, PID: 12244544
-
Yong PJ, Marion SA, Barrett IJ, Kalousek DK, Robinson WP (2002) Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies. Am J Med Genet 112:123–132
-
(2002)
Am J Med Genet
, vol.112
, pp. 123-132
-
-
Yong, P.J.1
Marion, S.A.2
Barrett, I.J.3
Kalousek, D.K.4
Robinson, W.P.5
-
53
-
-
77951725470
-
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease
-
COI: 1:CAS:528:DC%2BC3cXnsFylu74%3D, PID: 20425831
-
Yu S, Shao L, Kilbride H, Zwick DL (2010) Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am J Med Genet A 152A:1257–1262
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 1257-1262
-
-
Yu, S.1
Shao, L.2
Kilbride, H.3
Zwick, D.L.4
-
54
-
-
81155137800
-
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn
-
PID: 21572369
-
Zufferey F, Martinet D, Osterheld MC, Niel-Bütschi F, Giannoni E, Schmutz NB, Xia Z, Beckmann JS, Shaw-Smith C, Stankiewicz P, Langston C, Fellmann F (2011) 16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn. Pediatr Crit Care Med 12:e427–e432
-
(2011)
Pediatr Crit Care Med
, vol.12
, pp. e427-e432
-
-
Zufferey, F.1
Martinet, D.2
Osterheld, M.C.3
Niel-Bütschi, F.4
Giannoni, E.5
Schmutz, N.B.6
Xia, Z.7
Beckmann, J.S.8
Shaw-Smith, C.9
Stankiewicz, P.10
Langston, C.11
Fellmann, F.12
|