-
1
-
-
0000785397
-
The syndrome of pancreatic insufficiency and bone marrow dysfunction
-
Shwachman, H., L.K. Diamond, F.A. Oski & K.T. Khaw 1964. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J. Pediatr. 65: 645-663.
-
(1964)
J. Pediatr.
, vol.65
, pp. 645-663
-
-
Shwachman, H.1
Diamond, L.K.2
Oski, F.A.3
Khaw, K.T.4
-
2
-
-
0000951515
-
Congenital Hypoplasia of the exocrine pancreas
-
Bodian, M., W. Sheldon & R. Lightwood 1964. Congenital Hypoplasia of the exocrine pancreas. Acta. Paediatr. 53: 282-293.
-
(1964)
Acta. Paediatr.
, vol.53
, pp. 282-293
-
-
Bodian, M.1
Sheldon, W.2
Lightwood, R.3
-
3
-
-
0035071609
-
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
-
Goobie, S., M. Popovic, J. Morrison, et al 2001. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am. J. Hum. Genet. 68: 1048-1054.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1048-1054
-
-
Goobie, S.1
Popovic, M.2
Morrison, J.3
-
4
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock, G.R., J.A. Morrison, M. Popovic, et al 2003. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 33: 97-101.
-
(2003)
Nat. Genet.
, vol.33
, pp. 97-101
-
-
Boocock, G.R.1
Morrison, J.A.2
Popovic, M.3
-
5
-
-
0036694880
-
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome
-
Ip, W.F., A. Dupuis, L. Ellis, et al 2002. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. J. Pediatr. 141: 259-265.
-
(2002)
J. Pediatr.
, vol.141
, pp. 259-265
-
-
Ip, W.F.1
Dupuis, A.2
Ellis, L.3
-
6
-
-
44849103148
-
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI
-
Toiviainen-Salo, S., O. Makitie, M. Mannerkoski, et al 2008. Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. Am. J. Med. Genet. A. 146A: 1558-1564.
-
(2008)
Am. J. Med. Genet. A.
, vol.146
, pp. 1558-1564
-
-
Toiviainen-Salo, S.1
Makitie, O.2
Mannerkoski, M.3
-
7
-
-
50249135294
-
Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation
-
Toiviainen-Salo, S., O. Pitkanen, M. Holmstrom, et al 2008. Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation. Pediatr. Blood Cancer 51: 461-467.
-
(2008)
Pediatr. Blood Cancer
, vol.51
, pp. 461-467
-
-
Toiviainen-Salo, S.1
Pitkanen, O.2
Holmstrom, M.3
-
8
-
-
38949212480
-
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene
-
Toiviainen-Salo, S., M. Raade, P.R. Durie, et al 2008. Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. J. Pediatr. 152: 434-436.
-
(2008)
J. Pediatr.
, vol.152
, pp. 434-436
-
-
Toiviainen-Salo, S.1
Raade, M.2
Durie, P.R.3
-
9
-
-
76749165216
-
The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function
-
Kerr, E.N., L. Ellis, A. Dupuis, J.M. Rommens & P.R. Durie 2010. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J. Pediatr. 156: 433-438.
-
(2010)
J. Pediatr.
, vol.156
, pp. 433-438
-
-
Kerr, E.N.1
Ellis, L.2
Dupuis, A.3
Rommens, J.M.4
Durie, P.R.5
-
10
-
-
79955685955
-
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
-
Finch, A.J., C. Hilcenko, N. Basse, et al 2011. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes. Dev. 25: 917-929.
-
(2011)
Genes. Dev.
, vol.25
, pp. 917-929
-
-
Finch, A.J.1
Hilcenko, C.2
Basse, N.3
-
11
-
-
73949144076
-
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome
-
Moore, J.B., J.E. Farrar, R.J. Arceci, et al 2010. Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. Haematologica 95: 57-64.
-
(2010)
Haematologica
, vol.95
, pp. 57-64
-
-
Moore, J.B.1
Farrar, J.E.2
Arceci, R.J.3
-
12
-
-
34047182008
-
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
-
Menne, T.F., B. Goyenechea, N. Sanchez-Puig, et al 2007. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat. Genet. 39: 486-495.
-
(2007)
Nat. Genet.
, vol.39
, pp. 486-495
-
-
Menne, T.F.1
Goyenechea, B.2
Sanchez-Puig, N.3
-
13
-
-
80054836766
-
Defective ribosome assembly in Shwachman-Diamond syndrome
-
Wong, C.C., D. Traynor, N. Basse, et al 2011. Defective ribosome assembly in Shwachman-Diamond syndrome. Blood 118: 4305-4312.
-
(2011)
Blood
, vol.118
, pp. 4305-4312
-
-
Wong, C.C.1
Traynor, D.2
Basse, N.3
-
14
-
-
77955646193
-
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche
-
Mendez-Ferrer, S., T.V. Michurina, F. Ferraro, et al 2010. Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. Nature 466: 829-834.
-
(2010)
Nature
, vol.466
, pp. 829-834
-
-
Mendez-Ferrer, S.1
Michurina, T.V.2
Ferraro, F.3
-
15
-
-
79951694373
-
Bone marrow CD169+ macrophages promote the retention of hematopoietic stem and progenitor cells in the mesenchymal stem cell niche
-
Chow, A., D. Lucas, A. Hidalgo, et al 2011 Bone marrow CD169+ macrophages promote the retention of hematopoietic stem and progenitor cells in the mesenchymal stem cell niche. J. Exp. Med. 208: 261-271.
-
(2011)
J. Exp. Med.
, vol.208
, pp. 261-271
-
-
Chow, A.1
Lucas, D.2
Hidalgo, A.3
-
16
-
-
77950862042
-
Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia
-
Raaijmakers, M.H., S. Mukherjee, S. Guo, et al 2010. Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia. Nature 464: 852-857.
-
(2010)
Nature
, vol.464
, pp. 852-857
-
-
Raaijmakers, M.H.1
Mukherjee, S.2
Guo, S.3
-
17
-
-
33947219496
-
Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors
-
Yamaguchi, M., K. Fujimura, H. Toga, et al 2007. Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors. Exp. Hematol. 35: 579-586.
-
(2007)
Exp. Hematol.
, vol.35
, pp. 579-586
-
-
Yamaguchi, M.1
Fujimura, K.2
Toga, H.3
-
18
-
-
34948893469
-
Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential
-
Rawls, A.S., A.D. Gregory, J.R. Woloszynek, et al 2007. Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood 110: 2414-2422.
-
(2007)
Blood
, vol.110
, pp. 2414-2422
-
-
Rawls, A.S.1
Gregory, A.D.2
Woloszynek, J.R.3
-
19
-
-
34250832736
-
The worldwide prevalence of ADHD: a systematic review and metaregression analysis
-
Polanczyk, G., M.S. de Lima, B.L. Horta, et al 2007. The worldwide prevalence of ADHD: a systematic review and metaregression analysis. Am. J. Psychiatry. 164: 942-948.
-
(2007)
Am. J. Psychiatry.
, vol.164
, pp. 942-948
-
-
Polanczyk, G.1
de Lima, M.S.2
Horta, B.L.3
-
20
-
-
24144481900
-
Prevalence of diagnosis and medication treatment for attention-deficit/hyperactivity disorder-United States, 2003
-
Mental health in the United States
-
Mental health in the United States. 2005. Prevalence of diagnosis and medication treatment for attention-deficit/hyperactivity disorder-United States, 2003. MMWR. Morb. Mortal. Wkly. Rep. 54: 842-847.
-
(2005)
MMWR. Morb. Mortal. Wkly. Rep.
, vol.54
, pp. 842-847
-
-
-
21
-
-
32044470229
-
DCD and ADHD: a genetic study of their shared aetiology
-
Martin, N.C., J.P. Piek, D. Hay 2006. DCD and ADHD: a genetic study of their shared aetiology. Hum. Mov. Sci. 25: 110-124.
-
(2006)
Hum. Mov. Sci.
, vol.25
, pp. 110-124
-
-
Martin, N.C.1
Piek, J.P.2
Hay, D.3
-
22
-
-
77954222304
-
Mental disorders in five-year-old children with or without developmental delay: focus on ADHD
-
Baker, B.L., C.L. Neece, R.M. Fenning, et al 2010. Mental disorders in five-year-old children with or without developmental delay: focus on ADHD. J. Clin. Child. Adolesc. Psychol. 39: 492-505.
-
(2010)
J. Clin. Child. Adolesc. Psychol.
, vol.39
, pp. 492-505
-
-
Baker, B.L.1
Neece, C.L.2
Fenning, R.M.3
-
23
-
-
16544378027
-
Differential requirement for ptf1a in endocrine and exocrine lineages of developing zebrafish pancreas
-
Lin, J.W., A.V. Biankin, M.E. Horb, et al 2004. Differential requirement for ptf1a in endocrine and exocrine lineages of developing zebrafish pancreas. Dev. Biol. 274: 491-503.
-
(2004)
Dev. Biol.
, vol.274
, pp. 491-503
-
-
Lin, J.W.1
Biankin, A.V.2
Horb, M.E.3
-
24
-
-
4444277786
-
Notch inhibits Ptf1 function and acinar cell differentiation in developing mouse and zebrafish pancreas
-
Esni, F., B. Ghosh, A.V. Biankin, et al 2004. Notch inhibits Ptf1 function and acinar cell differentiation in developing mouse and zebrafish pancreas. Development 131: 4213-4224.
-
(2004)
Development
, vol.131
, pp. 4213-4224
-
-
Esni, F.1
Ghosh, B.2
Biankin, A.V.3
-
25
-
-
1242273630
-
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
-
Makitie, O., L. Ellis, P.R. Durie, et al 2004. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin. Genet. 65: 101-112.
-
(2004)
Clin. Genet.
, vol.65
, pp. 101-112
-
-
Makitie, O.1
Ellis, L.2
Durie, P.R.3
-
26
-
-
36148956182
-
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis
-
Toiviainen-Salo, S., M.K. Mayranpaa, P.R. Durie, et al 2007. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone 41: 965-972.
-
(2007)
Bone
, vol.41
, pp. 965-972
-
-
Toiviainen-Salo, S.1
Mayranpaa, M.K.2
Durie, P.R.3
-
27
-
-
79951479816
-
Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis
-
Leung, R., K. Cuddy, Y. Wang, et al 2011. Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. Blood 117: 2044-2053.
-
(2011)
Blood
, vol.117
, pp. 2044-2053
-
-
Leung, R.1
Cuddy, K.2
Wang, Y.3
-
28
-
-
24344500743
-
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations-findings in 10 patients
-
Makitie, O., M. Susic, L. Ward, et al 2005. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations-findings in 10 patients. Am. J. Med. Genet. A. 137A: 241-248.
-
(2005)
Am. J. Med. Genet. A.
, vol.137
, pp. 241-248
-
-
Makitie, O.1
Susic, M.2
Ward, L.3
-
29
-
-
74949089660
-
FoxO1 expression in osteoblasts regulates glucose homeostasis through regulation of osteocalcin in mice
-
Rached, M.T., A. Kode, B.C. Silva, et al 2010. FoxO1 expression in osteoblasts regulates glucose homeostasis through regulation of osteocalcin in mice. J Clin Invest 120: 357-368.
-
(2010)
J Clin Invest
, vol.120
, pp. 357-368
-
-
Rached, M.T.1
Kode, A.2
Silva, B.C.3
-
30
-
-
69449083603
-
A serotonin-dependent mechanism explains the leptin regulation of bone mass, appetite, and energy expenditure
-
Yadav, V.K., F. Oury, N. Suda, et al 2009. A serotonin-dependent mechanism explains the leptin regulation of bone mass, appetite, and energy expenditure. Cell 138: 976-989.
-
(2009)
Cell
, vol.138
, pp. 976-989
-
-
Yadav, V.K.1
Oury, F.2
Suda, N.3
-
31
-
-
80052388240
-
Towards a serotonin-dependent leptin roadmap in the brain
-
Oury, F., & G. Karsenty 2011. Towards a serotonin-dependent leptin roadmap in the brain. Trends. Endocrinol. Metab. 22: 382-387.
-
(2011)
Trends. Endocrinol. Metab.
, vol.22
, pp. 382-387
-
-
Oury, F.1
Karsenty, G.2
|