-
1
-
-
33645867658
-
Fog2 is required for normal diaphragm and lung development in mice and humans
-
Ackerman KG, Herron BJ, Vargas SO, et al. 2005. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 1:58-65.
-
(2005)
PLoS Genet
, vol.1
, pp. 58-65
-
-
Ackerman, K.G.1
Herron, B.J.2
Vargas, S.O.3
-
2
-
-
37549040201
-
Genetic basis of hypertrophic cardiomyopathy: From bench to the clinics
-
Alcalai R, Seidman JG, Seidman CE. 2007. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 19:104-110.
-
(2007)
J Cardiovasc Electrophysiol
, vol.19
, pp. 104-110
-
-
Alcalai, R.1
Seidman, J.G.2
Seidman, C.E.3
-
3
-
-
33748745033
-
Brain evolution and uniqueness in the human genome
-
Amadio JP, Walsh CA. 2006. Brain evolution and uniqueness in the human genome. Cell 126:1033-1035.
-
(2006)
Cell
, vol.126
, pp. 1033-1035
-
-
Amadio, J.P.1
Walsh, C.A.2
-
4
-
-
1942421160
-
Reductions in the incidence of nitrofen-induced diaphragmatic hernia by vitamin A and retinoic acid
-
Babiuk RP, Thébaud B, Greer JJ. 2004. Reductions in the incidence of nitrofen-induced diaphragmatic hernia by vitamin A and retinoic acid. Am J Physiol Lung Cell Mol Physiol 286:L970-973.
-
(2004)
Am J Physiol Lung Cell Mol Physiol
, vol.286
-
-
Babiuk, R.P.1
Thébaud, B.2
Greer, J.J.3
-
5
-
-
0742305866
-
Network biology: Understanding the cell's functional organization
-
Barabási AL, Oltvai ZN. 2004. Network biology: understanding the cell's functional organization. Nat Rev Genet 5:101-113.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 101-113
-
-
Barabási, A.L.1
Oltvai, Z.N.2
-
6
-
-
0031034866
-
Involvement of Sonic hedgehog (Shh) in mouse embryonic lung growth and morphogenesis
-
Bellusci S, Furuta Y, Rush MG, et al. 1997. Involvement of Sonic hedgehog (Shh) in mouse embryonic lung growth and morphogenesis. Development 124:53-63.
-
(1997)
Development
, vol.124
, pp. 53-63
-
-
Bellusci, S.1
Furuta, Y.2
Rush, M.G.3
-
7
-
-
46349086693
-
Integrative analysis for finding genes and networks involved in diabetes and other complex diseases
-
Bergholdt R, Storling ZM, Lage K, et al. 2007. Integrative analysis for finding genes and networks involved in diabetes and other complex diseases. Genome biology 8:R253.
-
(2007)
Genome biology
, vol.8
-
-
Bergholdt, R.1
Storling, Z.M.2
Lage, K.3
-
8
-
-
1842429078
-
Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?
-
Biggio JR Jr, Descartes MD, Carroll AJ, et al. 2004. Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? Am J Med Genet A 126A:183-185.
-
(2004)
Am J Med Genet A
, vol.126 A
, pp. 183-185
-
-
Biggio Jr, J.R.1
Descartes, M.D.2
Carroll, A.J.3
-
9
-
-
33846630909
-
Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects - United States, 2003
-
Centers for Disease Control and Prevention
-
Centers for Disease Control and Prevention. 2007. Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects - United States, 2003. MMWR Morb Mortal Wkly Rep 56:25-29.
-
(2007)
MMWR Morb Mortal Wkly Rep
, vol.56
, pp. 25-29
-
-
-
10
-
-
38949189263
-
Update on overall prevalence of major birth defects-Atlanta, Georgia, 1978-2005
-
Centers for Disease Control and Prevention
-
Centers for Disease Control and Prevention. 2008. Update on overall prevalence of major birth defects-Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep 57:1-5.
-
(2008)
MMWR Morb Mortal Wkly Rep
, vol.57
, pp. 1-5
-
-
-
11
-
-
0027080461
-
Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation
-
Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
-
(1992)
N Engl J Med
, vol.327
, pp. 1832-1835
-
-
Czeizel, A.E.1
Dudas, I.2
-
12
-
-
0037230105
-
The activation of the retinoic acid response element is inhibited in an animal model of congenital diaphragmatic hernia
-
Chen MH, MacGowan A, Ward S, et al. 2003. The activation of the retinoic acid response element is inhibited in an animal model of congenital diaphragmatic hernia. Biol Neonate 83:157-61.
-
(2003)
Biol Neonate
, vol.83
, pp. 157-161
-
-
Chen, M.H.1
MacGowan, A.2
Ward, S.3
-
13
-
-
34447342598
-
Reduction in neural-tube defects after folic acid fortification in Canada
-
de Wals P, Tairou F, Van Allen MI, et al. 2007. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med 357:135-142.
-
(2007)
N Engl J Med
, vol.357
, pp. 135-142
-
-
de Wals, P.1
Tairou, F.2
Van Allen, M.I.3
-
14
-
-
38349025873
-
Proteomics analysis of cytokine-induced dysfunction and death in insulin-producing INS-1E cells: New insights into the pathways involved
-
D'Hertog W, Overbergh L, Lage K, et al. 2007. Proteomics analysis of cytokine-induced dysfunction and death in insulin-producing INS-1E cells: new insights into the pathways involved. Mol Cell Proteomics 6:2180-2199.
-
(2007)
Mol Cell Proteomics
, vol.6
, pp. 2180-2199
-
-
D'Hertog, W.1
Overbergh, L.2
Lage, K.3
-
15
-
-
0027371034
-
-
Donnai D, Barrow M. 1993. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? Am J Med Genet 47:679-82.
-
(1993)
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder? Am J Med Genet
, vol.47
, pp. 679-682
-
-
Donnai, D.1
Barrow, M.2
-
16
-
-
34248594090
-
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
-
Frayling TM, Timpson NJ, Weedon MN, et al. 2007. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316:889-894.
-
(2007)
Science
, vol.316
, pp. 889-894
-
-
Frayling, T.M.1
Timpson, N.J.2
Weedon, M.N.3
-
18
-
-
34250882125
-
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6
-
Golzio C, Martinovic-Bouriel J, Thomas S, et al. 2007. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 80:1179-87.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 1179-1187
-
-
Golzio, C.1
Martinovic-Bouriel, J.2
Thomas, S.3
-
19
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Lee C, et al. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Lee, C.3
-
20
-
-
34547549299
-
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
-
Kantarci S, Al-Gazali L, Hill RS, et al. 2007a. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 39:957-959.
-
(2007)
Nat Genet
, vol.39
, pp. 957-959
-
-
Kantarci, S.1
Al-Gazali, L.2
Hill, R.S.3
-
21
-
-
34249050085
-
Congenital diaphragmatic hernia (CHD) etiology as revealed by pathway genetics
-
Kantarci S, Donahoe P. 2007b. Congenital diaphragmatic hernia (CHD) etiology as revealed by pathway genetics. Am J Med Genet 145C:217-226.
-
(2007)
Am J Med Genet
, vol.145 C
, pp. 217-226
-
-
Kantarci, S.1
Donahoe, P.2
-
22
-
-
30144437475
-
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome
-
Kantarci S, Casavant D, Prada C, et al. 2006. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet 140A:17-23.
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 17-23
-
-
Kantarci, S.1
Casavant, D.2
Prada, C.3
-
23
-
-
20244372562
-
Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
-
Klaassens M, van Dooren M, Eussen HJ, et al. 2005. Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76a:877-882.
-
(2005)
Am J Hum Genet
, vol.76 a
, pp. 877-882
-
-
Klaassens, M.1
van Dooren, M.2
Eussen, H.J.3
-
24
-
-
33947095027
-
A human phenome-interactome network of protein complexes implicated in genetic disorders
-
Lage K, Karlberg EO, Storling ZM, et al. 2007. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 25:309-316.
-
(2007)
Nat Biotechnol
, vol.25
, pp. 309-316
-
-
Lage, K.1
Karlberg, E.O.2
Storling, Z.M.3
-
25
-
-
39049163022
-
Structural genomic variation and personalized medicine
-
Lee C, Morton CC. 2008. Structural genomic variation and personalized medicine. N Engl JMed 358:740-741.
-
(2008)
N Engl JMed
, vol.358
, pp. 740-741
-
-
Lee, C.1
Morton, C.C.2
-
26
-
-
43049109492
-
Chick pulmonary Wnt5a directs airway and vascular tubulogenesis
-
Loscertales M, Mikels AJ, Hu JK, et al. 2008. Chick pulmonary Wnt5a directs airway and vascular tubulogenesis. Development 135:1365-1376.
-
(2008)
Development
, vol.135
, pp. 1365-1376
-
-
Loscertales, M.1
Mikels, A.J.2
Hu, J.K.3
-
27
-
-
0347003513
-
The burden of genetic disease on inpatient care in a children's hospital
-
McCandless SE, Brunger JW, Cassidy SB. 2004. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 74:121-127.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 121-127
-
-
McCandless, S.E.1
Brunger, J.W.2
Cassidy, S.B.3
-
28
-
-
0037444479
-
Megalin and the neurodevelopmental biology of sonic hedgehog and retinol
-
Review
-
McCarthy RA, Argraves WS. 2003. Megalin and the neurodevelopmental biology of sonic hedgehog and retinol. J Cell Sci 116(Pt 6):955-60. Review.
-
(2003)
J Cell Sci
, vol.116
, Issue.PART 6
, pp. 955-960
-
-
McCarthy, R.A.1
Argraves, W.S.2
-
29
-
-
42949149810
-
sarcomere protein gene mutations in pediatric cardiac hypertrophy
-
Morita H, Rehm HL, Menesses AD, et al. 2008. sarcomere protein gene mutations in pediatric cardiac hypertrophy. N Engl J Med 358:1899-1908.
-
(2008)
N Engl J Med
, vol.358
, pp. 1899-1908
-
-
Morita, H.1
Rehm, H.L.2
Menesses, A.D.3
-
30
-
-
47249088331
-
Identifying autism loci and genes by tracing recent shared ancestry
-
Morrow EM, Yoo SY, Flavell SW, et al. 2008. Identifying autism loci and genes by tracing recent shared ancestry. Science 321:218-223.
-
(2008)
Science
, vol.321
, pp. 218-223
-
-
Morrow, E.M.1
Yoo, S.Y.2
Flavell, S.W.3
-
31
-
-
33646706079
-
Newborn hearing screeing - a silent revolution
-
Morton CC, Nance WE. 2006. Newborn hearing screeing - a silent revolution. N Engl J Med 354:2151-2164.
-
(2006)
N Engl J Med
, vol.354
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
32
-
-
85088883299
-
Minimum fully effective dose of folic acid for the prevention of neural tube defects
-
Oakley GP, 2001. Minimum fully effective dose of folic acid for the prevention of neural tube defects. Epidemiology 12:475.
-
(2001)
Epidemiology
, vol.12
, pp. 475
-
-
Oakley, G.P.1
-
33
-
-
24344440728
-
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries
-
Piacentini G, Digilio MC, Capolino R, et al. 2005. Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries. Am J Med Genet A 137:176-180.
-
(2005)
Am J Med Genet A
, vol.137
, pp. 176-180
-
-
Piacentini, G.1
Digilio, M.C.2
Capolino, R.3
-
34
-
-
34249063569
-
Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
-
Pober B. 2007. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genetics 145C:158-171.
-
(2007)
Am J Med Genetics
, vol.145 C
, pp. 158-171
-
-
Pober, B.1
-
35
-
-
25644434981
-
Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program
-
Pober B, Lin A, Russell M, et al. 2005. Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet 138A(2):81-88.
-
(2005)
Am J Med Genet
, vol.138 A
, Issue.2
, pp. 81-88
-
-
Pober, B.1
Lin, A.2
Russell, M.3
-
36
-
-
30344454706
-
A genotype calling algorithm for affymetrix SNP arrays
-
Rabbee N, Speed TP. 2006. A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics 22:7-12.
-
(2006)
Bioinformatics
, vol.22
, pp. 7-12
-
-
Rabbee, N.1
Speed, T.P.2
-
37
-
-
0028875032
-
Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut
-
Roberts DJ, Johnson RL, Burke AC, et al. 1995. Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut. Development 121:3163-3174.
-
(1995)
Development
, vol.121
, pp. 3163-3174
-
-
Roberts, D.J.1
Johnson, R.L.2
Burke, A.C.3
-
38
-
-
33847257493
-
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia
-
Scott DA, Klaassens M, Holder AM, et al. 2007. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 6:424-430.
-
(2007)
Hum Mol Genet
, vol.6
, pp. 424-430
-
-
Scott, D.A.1
Klaassens, M.2
Holder, A.M.3
-
39
-
-
36649033619
-
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance
-
Shen Y, Irons M, Miller DT, et al. 2007. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem 53:2051-2059.
-
(2007)
Clin Chem
, vol.53
, pp. 2051-2059
-
-
Shen, Y.1
Irons, M.2
Miller, D.T.3
-
40
-
-
21644454003
-
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
-
Shimokawa O, Miyake N, Yoshimura T, et al. 2005. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet 136A:49-51.
-
(2005)
Am J Med Genet
, vol.136 A
, pp. 49-51
-
-
Shimokawa, O.1
Miyake, N.2
Yoshimura, T.3
-
41
-
-
0033582555
-
Consanguinity and recurrence risk of birth defects: A population-based study
-
Stoltenberg C, Magnus P, Skrondal A, et al. 1999. Consanguinity and recurrence risk of birth defects: a population-based study. Am J Med Genet 82:423-428.
-
(1999)
Am J Med Genet
, vol.82
, pp. 423-428
-
-
Stoltenberg, C.1
Magnus, P.2
Skrondal, A.3
-
42
-
-
0037161731
-
Comparative assessment of large-scale data sets of protein-protein interactions
-
von Mering C, Krause R, Snel B, et al. 2002. Comparative assessment of large-scale data sets of protein-protein interactions. Nature 417:399-403.
-
(2002)
Nature
, vol.417
, pp. 399-403
-
-
von Mering, C.1
Krause, R.2
Snel, B.3
-
43
-
-
2442584608
-
Folic acid and the prevention of neural-tube defects
-
Wald N. 2004. Folic acid and the prevention of neural-tube defects. N Engl J Med 350:2209-2211.
-
(2004)
N Engl J Med
, vol.350
, pp. 2209-2211
-
-
Wald, N.1
-
45
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358:667-675.
-
(2008)
N Engl J Med
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
46
-
-
42349106044
-
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
-
Zeggini E, Scott LJ, Saxena R, et al. 2008. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genetics 40:638-645.
-
(2008)
Nature Genetics
, vol.40
, pp. 638-645
-
-
Zeggini, E.1
Scott, L.J.2
Saxena, R.3
-
47
-
-
4143115809
-
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
-
Zucchero T M, et al. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:769-780.
-
(2004)
N Engl J Med
, vol.351
, pp. 769-780
-
-
Zucchero, T.M.1
|