-
1
-
-
0037974806
-
International Small for Gestational Age Advisory Board consensus development conference statement: Management of short children born small for gestational age, April 24-October 1, 2001
-
doi:10.1542/peds.111.6.1253
-
Lee PA, Chernausek SD, Hokken-Koelega AC & Czernichow P. International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001. Pediatrics 2003 111 1253-1261. (doi:10.1542/peds.111.6.1253)
-
(2003)
Pediatrics
, vol.111
, pp. 1253-1261
-
-
Lee, P.A.1
Chernausek, S.D.2
Hokken-Koelega, A.C.3
Czernichow, P.4
-
3
-
-
84885199755
-
Bloom syndrome in short children born small for gestational age: A challenging diagnosis
-
doi:10.1210/jc.2013-2491
-
Renes JS, Willemsen RH, Wagner A, Finken MJ & Hokken-Koelega AC. Bloom syndrome in short children born small for gestational age: a challenging diagnosis. Journal of Clinical Endocrinology and Metabolism 2013 98 3932-3938. (doi:10.1210/jc.2013-2491)
-
(2013)
Journal of Clinical Endocrinology and Metabolism
, vol.98
, pp. 3932-3938
-
-
Renes, J.S.1
Willemsen, R.H.2
Wagner, A.3
Finken, M.J.4
Hokken-Koelega, A.C.5
-
4
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
doi:10.1038/ng2092
-
Lee C, Iafrate AJ & Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nature Genetics 2007 39 S48-S54. (doi:10.1038/ng2092)
-
(2007)
Nature Genetics
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
5
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
doi:10.1016/j.ajhg.2010.04.006
-
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics 2010 86 749-764. (doi:10.1016/j.ajhg.2010.04.006)
-
(2010)
American Journal of Human Genetics
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
Church, D.M.7
Crolla, J.A.8
Eichler, E.E.9
Epstein, C.J.10
-
6
-
-
70449116133
-
Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure
-
doi:10.1210/jc.2009-0186
-
Aboura A, Dupas C, Tachdjian G, Portnoi MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B et al. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. Journal of Clinical Endocrinology and Metabolism 2009 94 4540-4546. (doi:10.1210/jc.2009-0186)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 4540-4546
-
-
Aboura, A.1
Dupas, C.2
Tachdjian, G.3
Portnoi, M.F.4
Bourcigaux, N.5
Dewailly, D.6
Frydman, R.7
Fauser, B.8
Ronci-Chaix, N.9
Donadille, B.10
-
7
-
-
76349083132
-
Large, rare chromosomal deletions associated with severe early-onset obesity
-
doi:10.1038/nature08689
-
Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010 463 666-670. (doi:10.1038/nature08689)
-
(2010)
Nature
, vol.463
, pp. 666-670
-
-
Bochukova, E.G.1
Huang, N.2
Keogh, J.3
Henning, E.4
Purmann, C.5
Blaszczyk, K.6
Saeed, S.7
Hamilton-Shield, J.8
Clayton-Smith, J.9
O'Rahilly, S.10
-
8
-
-
77954944963
-
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis
-
doi:10.1210/jc.2009-2195
-
Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H & Ullmann R. Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. Journal of Clinical Endocrinology and Metabolism 2010 95 3446-3452. (doi:10.1210/jc.2009-2195)
-
(2010)
Journal of Clinical Endocrinology and Metabolism
, vol.95
, pp. 3446-3452
-
-
Thorwarth, A.1
Mueller, I.2
Biebermann, H.3
Ropers, H.H.4
Grueters, A.5
Krude, H.6
Ullmann, R.7
-
9
-
-
77956915108
-
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci
-
doi:10.1093/humrep/deq167
-
Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A & Wieacker P. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Human Reproduction 2010 25 2637-2646. (doi:10.1093/humrep/deq167)
-
(2010)
Human Reproduction
, vol.25
, pp. 2637-2646
-
-
Ledig, S.1
Hiort, O.2
Scherer, G.3
Hoffmann, M.4
Wolff, G.5
Morlot, S.6
Kuechler, A.7
Wieacker, P.8
-
10
-
-
80053385922
-
Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans
-
doi:10.1038/ng.915
-
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M et al. Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. Nature Genetics 2011 43 1026-1030. (doi:10.1038/ng.915)
-
(2011)
Nature Genetics
, vol.43
, pp. 1026-1030
-
-
De Pontual, L.1
Yao, E.2
Callier, P.3
Faivre, L.4
Drouin, V.5
Cariou, S.6
Van Haeringen, A.7
Genevieve, D.8
Goldenberg, A.9
Oufadem, M.10
-
11
-
-
84867889844
-
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features
-
doi:10.1016/j.jpeds.2012.04.045
-
Spengler S, Begemann M, Ortiz Bruchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C et al. Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. Journal of Pediatrics 2012 161 933-942. (doi:10.1016/j.jpeds.2012.04.045)
-
(2012)
Journal of Pediatrics
, vol.161
, pp. 933-942
-
-
Spengler, S.1
Begemann, M.2
Ortiz Bruchle, N.3
Baudis, M.4
Denecke, B.5
Kroisel, P.M.6
Oehl-Jaschkowitz, B.7
Schulze, B.8
Raabe-Meyer, G.9
Spaich, C.10
-
12
-
-
84898819456
-
Copy number variants in patients with short stature
-
doi:10.1038/ejhg.2013.203
-
van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG et al. Copy number variants in patients with short stature. European Journal of Human Genetics 2014 22 602-609. (doi:10.1038/ejhg.2013.203)
-
(2014)
European Journal of Human Genetics
, vol.22
, pp. 602-609
-
-
Van Duyvenvoorde, H.A.1
Lui, J.C.2
Kant, S.G.3
Oostdijk, W.4
Gijsbers, A.C.5
Hoffer, M.J.6
Karperien, M.7
Walenkamp, M.J.8
Noordam, C.9
Voorhoeve, P.G.10
-
13
-
-
84875975345
-
Rare copy number variants are a common cause of short stature
-
doi:10.1371/journal.pgen.1003365
-
Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A et al. Rare copy number variants are a common cause of short stature. PLoS Genetics 2013 9 e1003365. (doi:10.1371/journal.pgen.1003365)
-
(2013)
PLoS Genetics
, vol.9
-
-
Zahnleiter, D.1
Uebe, S.2
Ekici, A.B.3
Hoyer, J.4
Wiesener, A.5
Wieczorek, D.6
Kunstmann, E.7
Reis, A.8
Doerr, H.G.9
Rauch, A.10
-
14
-
-
84883197797
-
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
-
doi:10.1136/jmedgenet-2013-101693
-
Dias RP, Nightingale P, Hardy C, Kirby G, Tee L, Price S, Macdonald F, Barrett TG & Maher ER. Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. Journal of Medical Genetics 2013 50 635-639. (doi:10.1136/jmedgenet-2013-101693)
-
(2013)
Journal of Medical Genetics
, vol.50
, pp. 635-639
-
-
Dias, R.P.1
Nightingale, P.2
Hardy, C.3
Kirby, G.4
Tee, L.5
Price, S.6
Macdonald, F.7
Barrett, T.G.8
Maher, E.R.9
-
15
-
-
36849016411
-
Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment
-
doi:10.1210/jc.2007-1661
-
Coutinho DC, Coletta RR, Costa EM, Pachi PR, Boguszewski MC, Damiani D, Mendonca BB, Arnhold IJ & Jorge AA. Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment. Journal of Clinical Endocrinology and Metabolism 2007 92 4889-4892. (doi:10.1210/jc.2007-1661)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, pp. 4889-4892
-
-
Coutinho, D.C.1
Coletta, R.R.2
Costa, E.M.3
Pachi, P.R.4
Boguszewski, M.C.5
Damiani, D.6
Mendonca, B.B.7
Arnhold, I.J.8
Jorge, A.A.9
-
16
-
-
84875141087
-
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: In vitro characterization of a novel mutation (p.Arg511Trp)
-
doi:10.1111/cen.12048
-
Leal AC, Montenegro LR, Saito RF, Ribeiro TC, Coutinho DC, Mendonca BB, Arnhold IJ & Jorge AA. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp). Clinical Endocrinology 2012 78 558-563. (doi:10.1111/cen.12048)
-
(2012)
Clinical Endocrinology
, vol.78
, pp. 558-563
-
-
Leal, A.C.1
Montenegro, L.R.2
Saito, R.F.3
Ribeiro, T.C.4
Coutinho, D.C.5
Mendonca, B.B.6
Arnhold, I.J.7
Jorge, A.A.8
-
17
-
-
71949124013
-
An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
-
doi:10.1186/1471-2105-10-380
-
Allemeersch J, Van Vooren S, Hannes F, De Moor B, Vermeesch JR & Moreau Y. An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH. BMC Bioinformatics 2009 10 380. (doi:10.1186/1471-2105-10-380)
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 380
-
-
Allemeersch, J.1
Van Vooren, S.2
Hannes, F.3
De Moor, B.4
Vermeesch, J.R.5
Moreau, Y.6
-
18
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
doi:10.1038/ng1416
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW & Lee C. Detection of large-scale variation in the human genome. Nature Genetics 2004 36 949-951. (doi:10.1038/ng1416)
-
(2004)
Nature Genetics
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
19
-
-
64149099583
-
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources
-
doi:10.1016/j.ajhg.2009.03.010
-
Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM & Carter NP. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. American Journal of Human Genetics 2009 84 524-533. (doi:10.1016/j.ajhg.2009.03.010)
-
(2009)
American Journal of Human Genetics
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
Rajan, D.6
Van Vooren, S.7
Moreau, Y.8
Pettett, R.M.9
Carter, N.P.10
-
20
-
-
84863987708
-
Computational tools for prioritizing candidate genes: Boosting disease gene discovery
-
doi:10.1038/nrg3253
-
Moreau Y & Tranchevent LC. Computational tools for prioritizing candidate genes: boosting disease gene discovery. Nature Reviews. Genetics 2012 13 523-536. (doi:10.1038/nrg3253)
-
(2012)
Nature Reviews. Genetics
, vol.13
, pp. 523-536
-
-
Moreau, Y.1
Tranchevent, L.C.2
-
21
-
-
0036079158
-
The human genome browser at UCSC
-
doi:10.1101/gr.229102
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM & Haussler D. The human genome browser at UCSC. Genome Research 2002 12 996-1006. (doi:10.1101/gr.229102)
-
(2002)
Genome Research
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
22
-
-
78651293534
-
miRBase: Integrating microRNA annotation and deep-sequencing data
-
doi:10.1093/nar/gkq1027
-
Kozomara A & Griffiths-Jones S. miRBase: integrating microRNA annotation and deep-sequencing data. Nucleic Acids Research 2011 39 D152-D157. (doi:10.1093/nar/gkq1027)
-
(2011)
Nucleic Acids Research
, vol.39
-
-
Kozomara, A.1
Griffiths-Jones, S.2
-
23
-
-
78651266827
-
miRTarBase: A database curates experimentally validated microRNA-target interactions
-
doi:10.1093/nar/gkq1107
-
Hsu SD, Lin FM, Wu WY, Liang C, Huang WC, Chan WL, Tsai WT, Chen GZ, Lee CJ, Chiu CM et al. miRTarBase: a database curates experimentally validated microRNA-target interactions. Nucleic Acids Research 2010 39 D163-D169. (doi:10.1093/nar/gkq1107)
-
(2010)
Nucleic Acids Research
, vol.39
-
-
Hsu, S.D.1
Lin, F.M.2
Wu, W.Y.3
Liang, C.4
Huang, W.C.5
Chan, W.L.6
Tsai, W.T.7
Chen, G.Z.8
Lee, C.J.9
Chiu, C.M.10
-
24
-
-
84859727275
-
The Mouse Genome Database (MGD): Comprehensive resource for genetics and genomics of the laboratory mouse
-
doi:10.1093/nar/gkr974
-
Eppig JT, Blake JA, Bult CJ, Kadin JA & Richardson JE. The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse. Nucleic Acids Research 2012 40 D881-D886. (doi:10.1093/nar/ gkr974)
-
(2012)
Nucleic Acids Research
, vol.40
-
-
Eppig, J.T.1
Blake, J.A.2
Bult, C.J.3
Kadin, J.A.4
Richardson, J.E.5
-
25
-
-
57549100209
-
GeneDistiller - Distilling candidate genes from linkage intervals
-
doi:10.1371/journal.pone.0003874
-
Seelow D, Schwarz JM & Schuelke M. GeneDistiller - distilling candidate genes from linkage intervals. PLoS ONE 2008 3 e3874. (doi:10.1371/journal.pone.0003874)
-
(2008)
PLoS ONE
, vol.3
-
-
Seelow, D.1
Schwarz, J.M.2
Schuelke, M.3
-
26
-
-
44149115417
-
Velo-cardio-facial syndrome: 30 years of study
-
doi:10.1002/ddrr.2
-
Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews 2008 14 3-10. (doi:10.1002/ddrr.2)
-
(2008)
Developmental Disabilities Research Reviews
, vol.14
, pp. 3-10
-
-
Shprintzen, R.J.1
-
27
-
-
67650908148
-
Identification of critical regions for clinical features of distal 10q deletion syndrome
-
doi:10.1111/j.1399-0004.2008.01115.x
-
Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA et al. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clinical Genetics 2009 76 54-62. (doi:10.1111/j.1399-0004.2008.01115.x)
-
(2009)
Clinical Genetics
, vol.76
, pp. 54-62
-
-
Yatsenko, S.A.1
Kruer, M.C.2
Bader, P.I.3
Corzo, D.4
Schuette, J.5
Keegan, C.E.6
Nowakowska, B.7
Peacock, S.8
Cai, W.W.9
Peiffer, D.A.10
-
28
-
-
84865541166
-
Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region
-
doi:10.1002/ajmg.a.35502
-
Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H et al. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. American Journal of Medical Genetics. Part A 2012 158A 2139-2151. (doi:10.1002/ajmg.a.35502)
-
(2012)
American Journal of Medical Genetics. Part A
, vol.158 A
, pp. 2139-2151
-
-
Strehle, E.M.1
Yu, L.2
Rosenfeld, J.A.3
Donkervoort, S.4
Zhou, Y.5
Chen, T.J.6
Martinez, J.E.7
Fan, Y.S.8
Barbouth, D.9
Zhu, H.10
-
29
-
-
80755187820
-
Human copy number variation and complex genetic disease
-
doi:10.1146/annurev-genet-102209-163544
-
Girirajan S, Campbell CD & Eichler EE. Human copy number variation and complex genetic disease. Annual Review of Genetics 2011 45 203-226. (doi:10.1146/annurev-genet-102209-163544)
-
(2011)
Annual Review of Genetics
, vol.45
, pp. 203-226
-
-
Girirajan, S.1
Campbell, C.D.2
Eichler, E.E.3
-
30
-
-
83555160904
-
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions
-
doi:10.1016/j.ajhg.2011.10.014
-
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ et al. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. American Journal of Human Genetics 2011 89 751-759. (doi:10.1016/j.ajhg.2011.10.014)
-
(2011)
American Journal of Human Genetics
, vol.89
, pp. 751-759
-
-
Dauber, A.1
Yu, Y.2
Turchin, M.C.3
Chiang, C.W.4
Meng, Y.A.5
Demerath, E.W.6
Patel, S.R.7
Rich, S.S.8
Rotter, J.I.9
Schreiner, P.J.10
-
31
-
-
84867840081
-
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome
-
doi:10.1002/ajmg.a.35525
-
Guzman ML, Delgado I, Lay-Son G, Willans E, Puga A & Repetto GM. Growth in Chilean infants with chromosome 22q11 microdeletion syndrome. American Journal of Medical Genetics. Part A 2012 158A 2682-2686. (doi:10.1002/ajmg.a. 35525)
-
(2012)
American Journal of Medical Genetics. Part A
, vol.158 A
, pp. 2682-2686
-
-
Guzman, M.L.1
Delgado, I.2
Lay-Son, G.3
Willans, E.4
Puga, A.5
Repetto, G.M.6
-
32
-
-
0034695550
-
Inhibition of the c-Jun N-terminal kinase/AP-1 and NF-kB pathways by PICOT, a novel protein kinase C-interacting protein with a thioredoxin homology domain
-
doi:10.1074/jbc.275.3.1902
-
Witte S, Villalba M, Bi K, Liu Y, Isakov N & Altman A. Inhibition of the c-Jun N-terminal kinase/AP-1 and NF-kB pathways by PICOT, a novel protein kinase C-interacting protein with a thioredoxin homology domain. Journal of Biological Chemistry 2000 275 1902-1909. (doi:10.1074/jbc.275.3.1902)
-
(2000)
Journal of Biological Chemistry
, vol.275
, pp. 1902-1909
-
-
Witte, S.1
Villalba, M.2
Bi, K.3
Liu, Y.4
Isakov, N.5
Altman, A.6
-
33
-
-
79959944018
-
A mammalian monothiol glutaredoxin, Grx3, is critical for cell cycle progression during embryogenesis
-
doi:10.1111/j.1742-4658.2011.08178.x
-
Cheng NH, Zhang W, Chen WQ, Jin J, Cui X, Butte NF, Chan L & Hirschi KD. A mammalian monothiol glutaredoxin, Grx3, is critical for cell cycle progression during embryogenesis. FEBS Journal 2011 278 2525-2539. (doi:10.1111/j.1742-4658.2011.08178.x)
-
(2011)
FEBS Journal
, vol.278
, pp. 2525-2539
-
-
Cheng, N.H.1
Zhang, W.2
Chen, W.Q.3
Jin, J.4
Cui, X.5
Butte, N.F.6
Chan, L.7
Hirschi, K.D.8
-
34
-
-
0033624921
-
Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation
-
doi:10.1128/MCB.20.10.3695-3704.2000
-
Itoh M, Yoshida Y, Nishida K, NarimatsuM, HibiM& Hirano T. Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation. Molecular and Cellular Biology 2000 20 3695-3704. (doi:10.1128/MCB.20.10.3695-3704.2000)
-
(2000)
Molecular and Cellular Biology
, vol.20
, pp. 3695-3704
-
-
Itoh, M.1
Yoshida, Y.2
Nishida, K.3
Narimatsu, M.4
Hibi, M.5
Hirano, T.6
-
35
-
-
60349092402
-
Mapping complex disease traits with global gene expression
-
doi:10.1038/nrg2537
-
Cookson W, Liang L, Abecasis G, Moffatt M & Lathrop M. Mapping complex disease traits with global gene expression. Nature Reviews. Genetics 2009 10 184-194. (doi:10.1038/nrg2537)
-
(2009)
Nature Reviews. Genetics
, vol.10
, pp. 184-194
-
-
Cookson, W.1
Liang, L.2
Abecasis, G.3
Moffatt, M.4
Lathrop, M.5
-
36
-
-
70449657762
-
IGF2 mRNA-binding protein 2: Biological function and putative role in type 2 diabetes
-
doi:10.1677/JME-09-0016
-
Christiansen J, Kolte AM, Hansen T & Nielsen FC. IGF2 mRNA-binding protein 2: biological function and putative role in type 2 diabetes. Journal of Molecular Endocrinology 2009 43 187-195. (doi:10.1677/JME-09-0016)
-
(2009)
Journal of Molecular Endocrinology
, vol.43
, pp. 187-195
-
-
Christiansen, J.1
Kolte, A.M.2
Hansen, T.3
Nielsen, F.C.4
-
37
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
doi:10.1038/nature09410
-
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010 467 832-838. (doi:10.1038/nature09410)
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
Rivadeneira, F.6
Willer, C.J.7
Jackson, A.U.8
Vedantam, S.9
Raychaudhuri, S.10
-
38
-
-
84864122509
-
Structural determinants of protein kinase CK2 regulation by autoinhibitory polymerization
-
doi:10.1021/cb300054n
-
Lolli G, Pinna LA & Battistutta R. Structural determinants of protein kinase CK2 regulation by autoinhibitory polymerization. ACS Chemical Biology 2012 7 1158-1163. (doi:10.1021/cb300054n)
-
(2012)
ACS Chemical Biology
, vol.7
, pp. 1158-1163
-
-
Lolli, G.1
Pinna, L.A.2
Battistutta, R.3
-
39
-
-
37549025849
-
The a catalytic subunit of protein kinase CK2 is required for mouse embryonic development
-
doi:10.1128/MCB.01119-07
-
Lou DY, Dominguez I, Toselli P, Landesman-Bollag E, O'Brien C & Seldin DC. The a catalytic subunit of protein kinase CK2 is required for mouse embryonic development. Molecular and Cellular Biology 2008 28 131-139. (doi:10.1128/MCB.01119-07)
-
(2008)
Molecular and Cellular Biology
, vol.28
, pp. 131-139
-
-
Lou, D.Y.1
Dominguez, I.2
Toselli, P.3
Landesman-Bollag, E.4
O'Brien, C.5
Seldin, D.C.6
-
40
-
-
84855756491
-
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics
-
doi:10.1038/ejhg.2011.174
-
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH et al . Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. European Journal of Human Genetics 2012 20 161-165. (doi:10.1038/ejhg.2011.174)
-
(2012)
European Journal of Human Genetics
, vol.20
, pp. 161-165
-
-
Hanemaaijer, N.M.1
Sikkema-Raddatz, B.2
Van Der Vries, G.3
Dijkhuizen, T.4
Hordijk, R.5
Van Essen, A.J.6
Veenstra-Knol, H.E.7
Kerstjens-Frederikse, W.S.8
Herkert, J.C.9
Gerkes, E.H.10
-
41
-
-
84856803144
-
Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-b-catenin signaling pathway
-
doi:10.1128/MCB.06409-11
-
Nishiyama M, Skoultchi AI & Nakayama KI. Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-b-catenin signaling pathway. Molecular and Cellular Biology 2012 32 501-512. (doi:10.1128/MCB.06409-11)
-
(2012)
Molecular and Cellular Biology
, vol.32
, pp. 501-512
-
-
Nishiyama, M.1
Skoultchi, A.I.2
Nakayama, K.I.3
-
42
-
-
84878260995
-
Genome-wide association study in Han Chinese identifies three novel loci for human height
-
doi:10.1007/s00439-013-1280-9
-
Hao Y, Liu X, Lu X, Yang X, Wang L, Chen S, Li H, Li J, Cao J, Chen J et al. Genome-wide association study in Han Chinese identifies three novel loci for human height. Human Genetics 2013 132 681-689. (doi:10.1007/s00439-013-1280-9)
-
(2013)
Human Genetics
, vol.132
, pp. 681-689
-
-
Hao, Y.1
Liu, X.2
Lu, X.3
Yang, X.4
Wang, L.5
Chen, S.6
Li, H.7
Li, J.8
Cao, J.9
Chen, J.10
-
43
-
-
84882894523
-
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA
-
doi:10.1016/j.ymgme.2013.04.002
-
Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T & Tomatsu S. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Molecular Genetics and Metabolism 2013 110 54-64. (doi:10.1016/j.ymgme.2013.04.002)
-
(2013)
Molecular Genetics and Metabolism
, vol.110
, pp. 54-64
-
-
Hendriksz, C.J.1
Harmatz, P.2
Beck, M.3
Jones, S.4
Wood, T.5
Lachman, R.6
Gravance, C.G.7
Orii, T.8
Tomatsu, S.9
-
44
-
-
63749127459
-
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
-
doi:10.1002/ajmg.a.32742
-
Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H & Bongers EM. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. American Journal of Medical Genetics. Part A 2009 149A 760-766. (doi:10.1002/ajmg.a.32742)
-
(2009)
American Journal of Medical Genetics. Part A
, vol.149 A
, pp. 760-766
-
-
Lugtenberg, D.1
De Brouwer, A.P.2
Oudakker, A.R.3
Pfundt, R.4
Hamel, B.C.5
Van Bokhoven, H.6
Bongers, E.M.7
-
45
-
-
79953024362
-
MicroRNA 421 suppresses DPC4/Smad4 in pancreatic cancer
-
doi:10.1016/j.bbrc.2011.02.086
-
Hao J, Zhang S, Zhou Y, Liu C, Hu X & Shao C. MicroRNA 421 suppresses DPC4/Smad4 in pancreatic cancer. Biochemical and Biophysical Research Communications 2011 406 552-557. (doi:10.1016/j.bbrc.2011.02.086)
-
(2011)
Biochemical and Biophysical Research Communications
, vol.406
, pp. 552-557
-
-
Hao, J.1
Zhang, S.2
Zhou, Y.3
Liu, C.4
Hu, X.5
Shao, C.6
-
46
-
-
84655163944
-
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
-
doi:10.1038/ng.1016
-
Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destree A, di Rocco M, Heron D, Jacquemont S et al. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nature Genetics 2011 44 85-88. (doi:10.1038/ng.1016)
-
(2011)
Nature Genetics
, vol.44
, pp. 85-88
-
-
Le Goff, C.1
Mahaut, C.2
Abhyankar, A.3
Le Goff, W.4
Serre, V.5
Afenjar, A.6
Destree, A.7
Di Rocco, M.8
Heron, D.9
Jacquemont, S.10
-
47
-
-
33846562388
-
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
-
doi:10.1086/510919
-
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. American Journal of Human Genetics 2007 80 232-240. (doi:10.1086/510919)
-
(2007)
American Journal of Human Genetics
, vol.80
, pp. 232-240
-
-
Klopocki, E.1
Schulze, H.2
Strauss, G.3
Ott, C.E.4
Hall, J.5
Trotier, F.6
Fleischhauer, S.7
Greenhalgh, L.8
Newbury-Ecob, R.A.9
Neumann, L.M.10
-
48
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
doi:10.1093/hmg/ddm376
-
Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB et al. Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics 2008 17 628-638. (doi:10.1093/hmg/ddm376)
-
(2008)
Human Molecular Genetics
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
KaraMohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook Jr., E.H.9
Dobyns, W.B.10
-
49
-
-
84883118276
-
TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia
-
doi:10.1186/1750-1172-8-125
-
Sandbacka M, Laivuori H, Freitas E, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C & Aittomaki K. TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia. Orphanet Journal of Rare Diseases 2013 8 125. (doi:10.1186/1750-1172-8-125) Development Development Development
-
(2013)
Orphanet Journal of Rare Diseases
, vol.8
, pp. 125
-
-
Sandbacka, M.1
Laivuori, H.2
Freitas, E.3
Halttunen, M.4
Jokimaa, V.5
Morin-Papunen, L.6
Rosenberg, C.7
Aittomaki, K.8
|