-
1
-
-
41749102426
-
Autism: the role of cholesterol in treatment
-
Aneja A, Tierney E. 2008. Autism: the role of cholesterol in treatment. Int Rev Psychiatry 20:165-170
-
(2008)
Int Rev Psychiatry
, vol.20
, pp. 165-170
-
-
Aneja, A.1
Tierney, E.2
-
2
-
-
79959933887
-
Mevalonate kinase deficiency: a survey of 50 patients
-
Bader-Meunier B, Florkin B, Sibilia J, et al. 2011. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 128:e152-e158
-
(2011)
Pediatrics
, vol.128
-
-
Bader-Meunier, B.1
Florkin, B.2
Sibilia, J.3
-
4
-
-
33645103857
-
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions
-
Bittar M, Happle R, Grzeschik KH, et al. 2006. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Arch Dermatol 142:348-351
-
(2006)
Arch Dermatol
, vol.142
, pp. 348-351
-
-
Bittar, M.1
Happle, R.2
Grzeschik, K.H.3
-
5
-
-
2442557294
-
Brain cholesterol: long secret life behind a barrier
-
Bjorkhem I, Meaney S. 2004. Brain cholesterol: long secret life behind a barrier. Arterioscler Thromb Vasc Biol 24:806-815
-
(2004)
Arterioscler Thromb Vasc Biol
, vol.24
, pp. 806-815
-
-
Bjorkhem, I.1
Meaney, S.2
-
6
-
-
84860389029
-
On-demand anakinra treatment is effective in mevalonate kinase deficiency
-
Bodar EJ, Kuijk LM, Drenth JPH, et al. 2011. On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 70:2155-2158
-
(2011)
Ann Rheum Dis
, vol.70
, pp. 2155-2158
-
-
Bodar, E.J.1
Kuijk, L.M.2
Drenth, J.P.H.3
-
7
-
-
0033590680
-
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses
-
Bradley LA, Palomaki GE, Knight GJ, et al. 1999. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Gene 82:355-358
-
(1999)
Am J Med Gene
, vol.82
, pp. 355-358
-
-
Bradley, L.A.1
Palomaki, G.E.2
Knight, G.J.3
-
8
-
-
19044379648
-
Lathosterolosis, a novel multiple-malformation/ mental retardation syndrome due to deficiency of 3beta-hydroxysteroiddelta5-desaturase
-
Brunetti-Pierri N, Corso G, Rossi M, et al. 2002. Lathosterolosis, a novel multiple-malformation/ mental retardation syndrome due to deficiency of 3beta-hydroxysteroiddelta5-desaturase. Am J Hum Genet 71:952-958
-
(2002)
Am J Hum Genet
, vol.71
, pp. 952-958
-
-
Brunetti-Pierri, N.1
Corso, G.2
Rossi, M.3
-
9
-
-
38349127623
-
Development of the human cerebral cortex: Boulder Committee revisited
-
Bystron I, Blakemore C, Rakic P. 2008. Development of the human cerebral cortex: Boulder Committee revisited. Nat Rev Neurosci 9:110-122
-
(2008)
Nat Rev Neurosci
, vol.9
, pp. 110-122
-
-
Bystron, I.1
Blakemore, C.2
Rakic, P.3
-
10
-
-
84861831842
-
Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria
-
Chaudhury S, Hormaza L, Mohammad S, et al. 2012. Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. Am J Transplant
-
(2012)
Am J Transplant
-
-
Chaudhury, S.1
Hormaza, L.2
Mohammad, S.3
-
11
-
-
0033692757
-
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
-
Clee SM, Kastelein JJ, van Dam M, et al. 2000. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 106:1263-1270
-
(2000)
J Clin Invest
, vol.106
, pp. 1263-1270
-
-
Clee, S.M.1
Kastelein, J.J.2
van Dam, M.3
-
12
-
-
0344953585
-
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
-
Cooper MK, Wassif CA, Krakowiak PA, et al. 2003. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 33:508-513
-
(2003)
Nat Genet
, vol.33
, pp. 508-513
-
-
Cooper, M.K.1
Wassif, C.A.2
Krakowiak, P.A.3
-
13
-
-
33744788672
-
Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells
-
Corcoran RB, Scott MP. 2006. Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells. Proc Natl Acad Sci USA 103:8408-8413
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 8408-8413
-
-
Corcoran, R.B.1
Scott, M.P.2
-
14
-
-
12844278861
-
3betahydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome
-
Correa-Cerro LS, Porter FD. 2005. 3betahydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab 84:112-126
-
(2005)
Mol Genet Metab
, vol.84
, pp. 112-126
-
-
Correa-Cerro, L.S.1
Porter, F.D.2
-
15
-
-
0035055571
-
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
-
Cuisset L, Drenth JP, Simon A, et al. 2001. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 9:260-266
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 260-266
-
-
Cuisset, L.1
Drenth, J.P.2
Simon, A.3
-
16
-
-
3543104951
-
Thematic review series: brain Lipids, Cholesterol metabolism in the central nervous system during early development and in the mature animal.
-
Dietschy JM, Turley SD. 2004. Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J Lipid Res 45:1375-1397
-
(2004)
J Lipid Res
, vol.45
, pp. 1375-1397
-
-
Dietschy, J.M.1
Turley, S.D.2
-
18
-
-
73449115641
-
The blood-brain and the blood-cerebrospinal fluid barriers: function and dysfunction
-
Engelhardt B, Sorokin L. 2009. The blood-brain and the blood-cerebrospinal fluid barriers: function and dysfunction. Semin Immunopathol 31:497-511
-
(2009)
Semin Immunopathol
, vol.31
, pp. 497-511
-
-
Engelhardt, B.1
Sorokin, L.2
-
19
-
-
33748951151
-
Morphogen to mitogen: the multiple roles of hedgehog signalling in vertebrate neural development
-
Fuccillo M, Joyner AL, Fishell G. 2006. Morphogen to mitogen: the multiple roles of hedgehog signalling in vertebrate neural development. Nat Rev Neurosci 7:772-783
-
(2006)
Nat Rev Neurosci
, vol.7
, pp. 772-783
-
-
Fuccillo, M.1
Joyner, A.L.2
Fishell, G.3
-
20
-
-
34248325296
-
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
-
Haas D, Hoffmann GF. 2006. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 1:13
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 13
-
-
Haas, D.1
Hoffmann, G.F.2
-
22
-
-
79952236202
-
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
-
He M, Kratz LE, Michel JJ, et al. 2011. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest 121:976-984
-
(2011)
J Clin Invest
, vol.121
, pp. 976-984
-
-
He, M.1
Kratz, L.E.2
Michel, J.J.3
-
23
-
-
0037387601
-
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
-
Herman GE. 2003. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet 12:75-88
-
(2003)
Hum Mol Genet
, vol.12
, pp. 75-88
-
-
Herman, G.E.1
-
24
-
-
1842869873
-
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
-
Houten SM, Frenkel J, Rijkers GT, et al. 2002. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 11:3115-3124
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3115-3124
-
-
Houten, S.M.1
Frenkel, J.2
Rijkers, G.T.3
-
25
-
-
33749464296
-
Mechanisms for cellular cholesterol transport: defects and human disease
-
Ikonen E. 2006. Mechanisms for cellular cholesterol transport: defects and human disease. Physiological Rev 6:1237-1261
-
(2006)
Physiological Rev
, vol.6
, pp. 1237-1261
-
-
Ikonen, E.1
-
26
-
-
0035577854
-
Hedgehog signaling in animal development: paradigms and principles
-
Ingham PW, McMahon AP. 2001. Hedgehog signaling in animal development: paradigms and principles. Genes Dev 15:3059-3087
-
(2001)
Genes Dev
, vol.15
, pp. 3059-3087
-
-
Ingham, P.W.1
McMahon, A.P.2
-
27
-
-
84893380379
-
Smith-Lemli-Opitz syndrome
-
In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews TM [Internet]. Seattle (WA): University of Washington, Seattle; November 13, 1993-1998 [updated October 24, 2007]
-
Irons M. Smith-Lemli-Opitz syndrome In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews TM [Internet]. Seattle (WA): University of Washington, Seattle; November 13, 1993-1998 [updated October 24, 2007]
-
-
-
Irons, M.1
-
28
-
-
0027270349
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
-
Irons M, Elias ER, Salen G, et al. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414
-
(1993)
Lancet
, vol.341
, pp. 1414
-
-
Irons, M.1
Elias, E.R.2
Salen, G.3
-
29
-
-
0033041217
-
Antenatal therapy of Smith-Lemli-Opitz syndrome
-
Irons MB, Nores J, Stewart TL, et al. 1999. Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther 14:133-137
-
(1999)
Fetal Diagn Ther
, vol.14
, pp. 133-137
-
-
Irons, M.B.1
Nores, J.2
Stewart, T.L.3
-
30
-
-
0030957561
-
Sources of cholesterol during development of the rat fetus and fetal organs
-
Jurevics HA, Kidwai FZ, Morell P. 1997. Sources of cholesterol during development of the rat fetus and fetal organs. J Lipid Res 38:723-733
-
(1997)
J Lipid Res
, vol.38
, pp. 723-733
-
-
Jurevics, H.A.1
Kidwai, F.Z.2
Morell, P.3
-
31
-
-
0034721665
-
Transducing the Hedgehog Signal. Cell
-
Kalderon D. 2000. Transducing the Hedgehog Signal. Cell, Vol. 103, 371-374, October 27
-
(2000)
October
, vol.27
, pp. 371-374
-
-
Kalderon, D.1
-
32
-
-
0029022844
-
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
-
Kelley RI. 1995. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236:45-58
-
(1995)
Clin Chim Acta
, vol.236
, pp. 45-58
-
-
Kelley, R.I.1
-
33
-
-
0034097540
-
The Smith-Lemli-Opitz syndrome
-
Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335
-
(2000)
J Med Genet
, vol.37
, pp. 321-335
-
-
Kelley, R.I.1
Hennekam, R.C.2
-
35
-
-
0030458446
-
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog
-
Kelley RL, Roessler E, Hennekam RC, et al. 1996. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 66:478-484
-
(1996)
Am J Med Genet
, vol.66
, pp. 478-484
-
-
Kelley, R.L.1
Roessler, E.2
Hennekam, R.C.3
-
36
-
-
0033582939
-
Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata
-
Kelley RI, Wilcox WG, Smith M, et al. 1999. Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 83:213-219
-
(1999)
Am J Med Genet
, vol.83
, pp. 213-219
-
-
Kelley, R.I.1
Wilcox, W.G.2
Smith, M.3
-
37
-
-
10744228153
-
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol-5-desaturase deficiency
-
Krakowiak PA, Wassif CA, Kratz L, et al. 2003. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol-5-desaturase deficiency. Hum Mol Genet 12:1631-1641
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1631-1641
-
-
Krakowiak, P.A.1
Wassif, C.A.2
Kratz, L.3
-
38
-
-
0033582547
-
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome
-
Kratz LE, Kelley RI. 1999. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 82:376-381
-
(1999)
Am J Med Genet
, vol.82
, pp. 376-381
-
-
Kratz, L.E.1
Kelley, R.I.2
-
39
-
-
0034726691
-
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome
-
Linck LM, Lin DS, Flavell D, et al. 2000. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Genet 93:360-365
-
(2000)
Am J Med Genet
, vol.93
, pp. 360-365
-
-
Linck, L.M.1
Lin, D.S.2
Flavell, D.3
-
40
-
-
33746998472
-
Mutational spectrum and genotype- phenotype correlations in mevalonate kinase deficiency
-
Mandey SH, Schneiders MS, Koster J, et al. 2006. Mutational spectrum and genotype- phenotype correlations in mevalonate kinase deficiency. Hum Mutat 27: 796-802
-
(2006)
Hum Mutat
, vol.27
, pp. 796-802
-
-
Mandey, S.H.1
Schneiders, M.S.2
Koster, J.3
-
41
-
-
0036468157
-
Sonic hedgehog in CNS development: one signal, multiple outputs
-
Marti E, Bovolenta P. 2002. Sonic hedgehog in CNS development: one signal, multiple outputs. Trends Neurosci 25:89-96
-
(2002)
Trends Neurosci
, vol.25
, pp. 89-96
-
-
Marti, E.1
Bovolenta, P.2
-
42
-
-
78649781492
-
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
-
McLarren KW, Severson TM, du Souich C, et al. 2010. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet 87:905-914
-
(2010)
Am J Hum Genet
, vol.87
, pp. 905-914
-
-
McLarren, K.W.1
Severson, T.M.2
Du Souich, C.3
-
43
-
-
34347233869
-
Allogeneic bone marrow transplantation in mevalonic aciduria
-
Neven B, Valayannopoulos V, Quartier P, et al. 2007. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med 356:2700-2703
-
(2007)
N Engl J Med
, vol.356
, pp. 2700-2703
-
-
Neven, B.1
Valayannopoulos, V.2
Quartier, P.3
-
44
-
-
33749473353
-
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients
-
Nowaczyk MJ, Waye JS, Douketis JD. 2006. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? Am J Med Genet A 140:2057-2062
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2057-2062
-
-
Nowaczyk, M.J.1
Waye, J.S.2
Douketis, J.D.3
-
45
-
-
0037230328
-
Outsourcing in the brain: do neurons depend on cholesterol delivery by astrocytes
-
Pfrieger FW. 2003. Outsourcing in the brain: do neurons depend on cholesterol delivery by astrocytes? Bioessays 25:72-78.
-
(2003)
Bioessays
, vol.25
, pp. 72-78
-
-
Pfrieger, F.W.1
-
46
-
-
0015415169
-
Cholesterol metabolism and placental transfer in the pregnant Rhesus monkey
-
Pitkin RM, Connor WE, Lin DS. 1972. Cholesterol metabolism and placental transfer in the pregnant Rhesus monkey. J Clin Invest 51:2584-2592
-
(1972)
J Clin Invest
, vol.51
, pp. 2584-2592
-
-
Pitkin, R.M.1
Connor, W.E.2
Lin, D.S.3
-
47
-
-
0014416981
-
Studies on the synthesis of cholesterol in the brain of the human fetus
-
Plotz EJ, Kabara JJ, Davis ME, et al. 1968. Studies on the synthesis of cholesterol in the brain of the human fetus. Am J Obstet Gynecol 101:534-538
-
(1968)
Am J Obstet Gynecol
, vol.101
, pp. 534-538
-
-
Plotz, E.J.1
Kabara, J.J.2
Davis, M.E.3
-
48
-
-
78650909128
-
Malformation syndromes caused by disorders of cholesterol synthesis
-
Porter FD, Herman GE. 2011. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 52:6-34
-
(2011)
J Lipid Res
, vol.52
, pp. 6-34
-
-
Porter, F.D.1
Herman, G.E.2
-
49
-
-
0029844192
-
Cholesterol modification of hedgehog signaling proteins in animal development
-
Porter JA, Young KE, Beachy PA. 1996. Cholesterol modification of hedgehog signaling proteins in animal development. Science 274:255-259
-
(1996)
Science
, vol.274
, pp. 255-259
-
-
Porter, J.A.1
Young, K.E.2
Beachy, P.A.3
-
50
-
-
0034059969
-
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome
-
Reardon W, Smith A, Honour JW, et al. 2000. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 37:26-32
-
(2000)
J Med Genet
, vol.37
, pp. 26-32
-
-
Reardon, W.1
Smith, A.2
Honour, J.W.3
-
51
-
-
80051728609
-
Molecular biology of the bloodbrain and the blood-cerebrospinal fluid barriers: similarities and differences
-
Fluids Barriers CNS doi: 8 3 10. 1186/2045-8118-8-3
-
Redzic Z. 2011. Molecular biology of the bloodbrain and the blood-cerebrospinal fluid barriers: similarities and differences. Fluids Barriers CNS 8:3. doi: 10.1186/2045-8118-8-3
-
(2011)
-
-
Redzic, Z.1
-
52
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K, et al. 1996. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
-
54
-
-
0031812755
-
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype
-
Ryan AK, Bartlett K, Clayton P, et al. 1998. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet 35:558-565
-
(1998)
J Med Genet
, vol.35
, pp. 558-565
-
-
Ryan, A.K.1
Bartlett, K.2
Clayton, P.3
-
55
-
-
0004071012
-
Metabolism at a glance
-
3rd ed. Blackwell Publishing: Oxford
-
Salway JG. 2004. Metabolism at a glance, 3rd ed. Blackwell Publishing: Oxford. p 72-73
-
(2004)
, pp. 72-73
-
-
Salway, J.G.1
-
56
-
-
79959519793
-
Desmosterolosis- phenotypic and molecular characterization of a third case and review of the literature
-
Schaaf CP, Koster J, Katsonis P, et al. 2011. Desmosterolosis- phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet Part A 155:1597-1604
-
(2011)
Am J Med Genet Part A
, vol.155
, pp. 1597-1604
-
-
Schaaf, C.P.1
Koster, J.2
Katsonis, P.3
-
57
-
-
38449096024
-
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)
-
Shackleton CH, Marcos J, Palomaki GE, et al. 2007. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet A 143:2129- 2136
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2129-2136
-
-
Shackleton, C.H.1
Marcos, J.2
Palomaki, G.E.3
-
58
-
-
33745599658
-
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome
-
Sikora DM, Pettit-Kekel K, Penfield J, et al. 2006. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A 140:1511-1518
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1511-1518
-
-
Sikora, D.M.1
Pettit-Kekel, K.2
Penfield, J.3
-
59
-
-
3042839928
-
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome
-
Sikora DM, Ruggiero M, Petit-Kekel K, et al. 2004. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr 144:783-791
-
(2004)
J Pediatr
, vol.144
, pp. 783-791
-
-
Sikora, D.M.1
Ruggiero, M.2
Petit-Kekel, K.3
-
60
-
-
2042501706
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
-
Simon A, Drewe E, van der Meer JW, et al. 2004. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 75:476-483
-
(2004)
Clin Pharmacol Ther
, vol.75
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
van der Meer, J.W.3
-
61
-
-
0000139419
-
A newly recognized syndrome of multiple congenital anomalies
-
Smith DW, Lemli L, Opitz JM. 1964. A newly recognized syndrome of multiple congenital anomalies. J. Pediatr 64:210-217
-
(1964)
J. Pediatr
, vol.64
, pp. 210-217
-
-
Smith, D.W.1
Lemli, L.2
Opitz, J.M.3
-
62
-
-
80053453979
-
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo
-
PLoS Genet 7:e1002224
-
Stottmann RW, Turbe-Doan A, Tran P, et al. (2011) Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS Genet 7:e1002224
-
(2011)
-
-
Stottmann, R.W.1
Turbe-Doan, A.2
Tran, P.3
-
63
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey PS, Smith R, Pleasance E, et al. 2009. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41:535-543
-
(2009)
Nat Genet
, vol.41
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
-
64
-
-
33748928152
-
Abnormalities of cholesterol metabolism in autism spectrum disorders
-
Tierney E, Bukelis I, Thompson RE, et al. 2006. Abnormalities of cholesterol metabolism in autism spectrum disorders. Am J Med Gene 141:666-668
-
(2006)
Am J Med Gene
, vol.141
, pp. 666-668
-
-
Tierney, E.1
Bukelis, I.2
Thompson, R.E.3
-
66
-
-
78649569399
-
Eastern/ Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project
-
Periodic fever syndromes in Eastern and Central European countries: results of a pediatricmultinational survey. Pediatr RheumatolOnline J. Dec 2;
-
Toplak N, Dolezalova P, Constantin T, et al. Eastern/ Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project. Periodic fever syndromes in Eastern and Central European countries: results of a pediatricmultinational survey. Pediatr RheumatolOnline J. 2010 Dec 2;8:29
-
(2010)
, vol.8
, pp. 29
-
-
Toplak, N.1
Dolezalova, P.2
Constantin, T.3
-
67
-
-
58149195381
-
Long-term follow up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
-
Van der Hilst JC, Bodar EJ, Barron KS, et al. 2008. Long-term follow up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Med (Baltimore) 87:301-310
-
(2008)
Med (Baltimore)
, vol.87
, pp. 301-310
-
-
Van Der Hilst, J.C.1
Bodar, E.J.2
Barron, K.S.3
-
68
-
-
37649002802
-
Fetal blood-brain barrier P-glycoprotein contributes to brain protection during human development
-
Virgintino D, Errede M, Girolamo F, et al. 2008. Fetal blood-brain barrier P-glycoprotein contributes to brain protection during human development. J Neuropathol Exp Neurol 67:50-61
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 50-61
-
-
Virgintino, D.1
Errede, M.2
Girolamo, F.3
-
69
-
-
0034734758
-
Immunogold cytochemistry of the blood-brain barrier glucose transporter GLUT1 and endogenous albumin in the developing human brain. Dev
-
Virgintino D, Robertson R, Benagiano V, et al. 2000. Immunogold cytochemistry of the blood-brain barrier glucose transporter GLUT1 and endogenous albumin in the developing human brain. Dev Brain Res 123:95-101
-
(2000)
Brain Res
, vol.123
, pp. 95-101
-
-
Virgintino, D.1
Robertson, R.2
Benagiano, V.3
-
70
-
-
84893396571
-
SC4MOL Deficiency, A New Genetic Disorder in Cholesterologenesis
-
American College of Medical Genetics Annual Meeting, March 24-28, 2010 Albuquerque,New Mexico
-
Vockley J, Smith LD, Chang R, et al. SC4MOL Deficiency, A New Genetic Disorder in Cholesterologenesis. American College of Medical Genetics 2010 Annual Meeting, March 24-28, 2010 Albuquerque,New Mexico
-
(2010)
-
-
Vockley, J.1
Smith, L.D.2
Chang, R.3
-
71
-
-
84893430435
-
-
Biochemistry 3rd ed. Wiley
-
Voet D, Voet JG. Biochemistry, 3rd ed. Wiley: 2004. p 942-959
-
(2004)
, pp. 942-959
-
-
Voet, D.1
Voet, J.G.2
-
72
-
-
0001929609
-
Neuronal proliferation, migration, organization, and myelination
-
In: WB Saunders Company ed. Neurology of the Newborn. Philadelphia, PA: WB Saunders Company, A Division of Harcourt Brace & Company
-
Volpe JJ. Neuronal proliferation, migration, organization, and myelination. In: WB Saunders Company ed. Neurology of the Newborn. Philadelphia, PA: WB Saunders Company, A Division of Harcourt Brace & Company, 1995:43-92
-
(1995)
, pp. 43-92
-
-
Volpe, J.J.1
-
73
-
-
19444366276
-
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts
-
Wassif CA, Krakowiak PA, Wright BS, et al. 2005. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab 85:96-107
-
(2005)
Mol Genet Metab
, vol.85
, pp. 96-107
-
-
Wassif, C.A.1
Krakowiak, P.A.2
Wright, B.S.3
-
74
-
-
0032231459
-
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
-
Wassif CA, Maslen C, Kachilele-Linjewile S, et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 1998;63:55-62
-
(1998)
Am J Hum Genet
, vol.63
, pp. 55-62
-
-
Wassif, C.A.1
Maslen, C.2
Kachilele-Linjewile, S.3
-
75
-
-
84889778789
-
Diagnosis of inherited defects of cholesterol biosynthesis
-
In: Blau N, Duran M, Gibson KM, editors. Springer-Verlag: Berlin Heidelberg. Chapter 5 1
-
Waterham HR, Duran M. 2008 "Diagnosis of inherited defects of cholesterol biosynthesis". In: Blau N, Duran M, Gibson KM, editors. Laboratory guide to the methods in biochemical genetics. Springer-Verlag: Berlin Heidelberg. Chapter 5.1, p 484-497
-
(2008)
Laboratory guide to the methods in biochemical genetics
, pp. 484-497
-
-
Waterham, H.R.1
Duran, M.2
-
76
-
-
4043128145
-
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome
-
Witsch-Baumgartner M, Gruber M, Kraft HG. 2004. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. J Med Genet 41:577-584
-
(2004)
J Med Genet
, vol.41
, pp. 577-584
-
-
Witsch-Baumgartner, M.1
Gruber, M.2
Kraft, H.G.3
-
77
-
-
42049113582
-
Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations
-
Witsch-Baumgartner M, Schwentner I, Gruber M, et al. 2008. Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations. J Med Genet 45:200-209
-
(2008)
J Med Genet
, vol.45
, pp. 200-209
-
-
Witsch-Baumgartner, M.1
Schwentner, I.2
Gruber, M.3
-
78
-
-
80052037131
-
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
-
Zolotushko et al. 2011. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. Eur J Hum Gene 19:942-946
-
(2011)
Eur J Hum Gene
, vol.19
, pp. 942-946
-
-
Zolotushko1
|