-
1
-
-
0015707559
-
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study
-
Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 1973;23:568-585.
-
(1973)
Hum Hered
, vol.23
, pp. 568-585
-
-
Jacobsen, P.1
Hauge, M.2
Henningsen, K.3
Hobolth, N.4
Mikkelsen, M.5
Philip, J.6
-
3
-
-
3342974500
-
The 11q terminal deletion disorder: A prospective study of 110 cases
-
Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 2004;129A:51-61.
-
(2004)
Am J Med Genet A
, vol.129 A
, pp. 51-61
-
-
Grossfeld, P.D.1
Mattina, T.2
Lai, Z.3
-
4
-
-
1842787003
-
Ocular findings in Jacobsen syndrome
-
Lee WB, OHalloran HS, Grossfeld PD, Scher C, Jockin YM, Jones C. Ocular findings in Jacobsen syndrome. J AAPOS 2004;8:141-145.
-
(2004)
J AAPOS
, vol.8
, pp. 141-145
-
-
Lee, W.B.1
Ohalloran, H.S.2
Grossfeld, P.D.3
Scher, C.4
Jockin, Y.M.5
Jones, C.6
-
5
-
-
3343013915
-
Endocrine abnormalities in patients with Jacobsen (11q-) syndrome
-
Haghi M, Dewan A, Jones KL, Reitz R, Jones C, Grossfeld P. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A 2004;129A:62-63.
-
(2004)
Am J Med Genet A
, vol.129 A
, pp. 62-63
-
-
Haghi, M.1
Dewan, A.2
Jones, K.L.3
Reitz, R.4
Jones, C.5
Grossfeld, P.6
-
6
-
-
46949090156
-
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome)
-
Maas AP, Grossfeld PD, Didden R, et al. Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). Genet Couns 2008;19:225-235.
-
(2008)
Genet Couns
, vol.19
, pp. 225-235
-
-
Maas, A.P.1
Grossfeld, P.D.2
Didden, R.3
-
7
-
-
64149094521
-
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)
-
Coldren CD, Lai Z, Shragg P, et al. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 2009;10:89-95.
-
(2009)
Neurogenetics
, vol.10
, pp. 89-95
-
-
Coldren, C.D.1
Lai, Z.2
Shragg, P.3
-
8
-
-
55449121029
-
Clinical and molecularcytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3)
-
Bernaciak J, Szczauba K, Derwiska K, et al. Clinical and molecularcytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3). Am J Med Genet A 2008;146A:2449-2454.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2449-2454
-
-
Bernaciak, J.1
Szczauba, K.2
Derwiska, K.3
-
9
-
-
78049377004
-
Cognitivebehavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions
-
Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitivebehavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet 2010;154C:417-426.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 417-426
-
-
Fisch, G.S.1
Grossfeld, P.2
Falk, R.3
Battaglia, A.4
Youngblom, J.5
Simensen, R.6
-
10
-
-
84866502866
-
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome
-
Guerin A, Stavropoulos DJ, Diab Y, et al. Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. Am J Med Genet A 2012;158A:2551-2556.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 2551-2556
-
-
Guerin, A.1
Stavropoulos, D.J.2
Diab, Y.3
-
11
-
-
67649890838
-
Deletion of JAMC, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice
-
Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P. Deletion of JAMC, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. Am J Med Genet A 2009;149A:1438-1443.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1438-1443
-
-
Ye, M.1
Hamzeh, R.2
Geddis, A.3
Varki, N.4
Perryman, M.B.5
Grossfeld, P.6
-
12
-
-
0242606428
-
Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases
-
Favier R, Jondeau K, Boutard P, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost 2003;90:893-897.
-
(2003)
Thromb Haemost
, vol.90
, pp. 893-897
-
-
Favier, R.1
Jondeau, K.2
Boutard, P.3
-
14
-
-
34547839553
-
Between a ROC and a hard place: Decision making and making decisions about using the SCQ
-
Corsello C, Hus V, Pickles A, et al. Between a ROC and a hard place: decision making and making decisions about using the SCQ. J Child Psychol Psychiatry 2007;48:932-940.
-
(2007)
J Child Psychol Psychiatry
, vol.48
, pp. 932-940
-
-
Corsello, C.1
Hus, V.2
Pickles, A.3
-
16
-
-
33744909414
-
Autism from 2 to 9 years of age
-
Lord C, Risi S, DiLavore PS, Shulman C, Thurm A, Pickles A. Autism from 2 to 9 years of age. Arch Gen Psychiatry 2006;63:694-701.
-
(2006)
Arch Gen Psychiatry
, vol.63
, pp. 694-701
-
-
Lord, C.1
Risi, S.2
Dilavore, P.S.3
Shulman, C.4
Thurm, A.5
Pickles, A.6
-
17
-
-
33745874181
-
-
Third Edition (Bayley-III), 3rd edn. Harcourt Brace & Co: San Antonio, TX
-
Bayley N. Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III), 3rd edn. Harcourt Brace & Co: San Antonio, TX, 2005.
-
(2005)
Bayley Scales of Infant and Toddler Development
-
-
Bayley, N.1
-
21
-
-
0003428096
-
-
Western Psychological Services: Los Angeles, CA
-
Lord C, Rutter M, DiLavore PC, Risi S. Autism Diagnostic Observation Schedule. Western Psychological Services: Los Angeles, CA, 2001.
-
(2001)
Autism Diagnostic Observation Schedule
-
-
Lord, C.1
Rutter, M.2
Dilavore, P.C.3
Risi, S.4
-
22
-
-
34147123692
-
The Autism Diagnostic Observation Schedule: Revised algorithms for improved diagnostic validity
-
Gotham K, Risi S, Pickles A, Lord C. The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity. J Autism Dev Disord 2007;37:613-627.
-
(2007)
J Autism Dev Disord
, vol.37
, pp. 613-627
-
-
Gotham, K.1
Risi, S.2
Pickles, A.3
Lord, C.4
-
23
-
-
44849109297
-
A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms
-
Gotham K, Risi S, Dawson G, et al. A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry 2008;47:642-651.
-
(2008)
J Am Acad Child Adolesc Psychiatry
, vol.47
, pp. 642-651
-
-
Gotham, K.1
Risi, S.2
Dawson, G.3
-
26
-
-
0031932927
-
Reliability and accuracy of differentiating pervasive developmental disorder subtypes
-
Mahoney WJ, Szatmari P, MacLean JE, et al. Reliability and accuracy of differentiating pervasive developmental disorder subtypes. J Am Acad Child Adolesc Psychiatry 1998;37:278-285.
-
(1998)
J Am Acad Child Adolesc Psychiatry
, vol.37
, pp. 278-285
-
-
Mahoney, W.J.1
Szatmari, P.2
Maclean, J.E.3
-
27
-
-
33748417617
-
Combining information from multiple sources in the diagnosis of autism spectrum disorders
-
Risi S, Lord C, Gotham K, et al. Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry 2006;45:1094-1103.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, pp. 1094-1103
-
-
Risi, S.1
Lord, C.2
Gotham, K.3
-
28
-
-
84860555735
-
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
-
Iascone M, Ciccone R, Galletti L, et al. Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet 2012;81:542-554.
-
(2012)
Clin Genet
, vol.81
, pp. 542-554
-
-
Iascone, M.1
Ciccone, R.2
Galletti, L.3
-
29
-
-
84896392523
-
Social impairments in chromosome 22q11. 2 deletion syndrome (22q11.2DS): Autism spectrum disorder or a different endophenotype?
-
Angkustsiri K, Goodlin-Jones B, Deprey L, Brahmbhatt K, Harris S, Simon TJ. Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype? J Autism Dev Disord 2014;44:739-746.
-
(2014)
J Autism Dev Disord
, vol.44
, pp. 739-746
-
-
Angkustsiri, K.1
Goodlin-Jones, B.2
Deprey, L.3
Brahmbhatt, K.4
Harris, S.5
Simon, T.J.6
-
30
-
-
54549086639
-
Autism: Many genes, common pathways?
-
Geschwind DH. Autism: many genes, common pathways? Cell 2008;135:391-395.
-
(2008)
Cell
, vol.135
, pp. 391-395
-
-
Geschwind, D.H.1
-
31
-
-
84877771585
-
Exploring the multifactorial nature of autism through computational systems biology: Calcium and the Rho GTPase RAC1 under the spotlight
-
Zeidn-Chuli F, Rybarczyk-Filho JL, Salmina AB, de Oliveira BH, Noda M, Moreira JC. Exploring the multifactorial nature of autism through computational systems biology: calcium and the Rho GTPase RAC1 under the spotlight. Neuromolecular Med 2013;15:364-383.
-
(2013)
Neuromolecular Med
, vol.15
, pp. 364-383
-
-
Zeidn-Chuli, F.1
Rybarczyk-Filho, J.L.2
Salmina, A.B.3
De Oliveira, B.H.4
Noda, M.5
Moreira, J.C.6
-
32
-
-
79958032110
-
Rare de novo and transmitted copynumber variation in autistic spectrum disorders
-
Levy D, Ronemus M, Yamrom B, et al. Rare de novo and transmitted copynumber variation in autistic spectrum disorders. Neuron 2011;70:886-897.
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
-
33
-
-
8044222737
-
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
-
International Collaborative Study Group for Bartter-like Syndromes. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 1997;6:17-26.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 17-26
-
-
International Collaborative Study Group for Bartter-like Syndromes1
-
34
-
-
79951506090
-
K+ channel mutations in adrenal aldosteroneproducing adenomas and hereditary hypertension
-
Choi M, Scholl UI, Yue P, et al. K+ channel mutations in adrenal aldosteroneproducing adenomas and hereditary hypertension. Science 2011;331: 768-772.
-
(2011)
Science
, vol.331
, pp. 768-772
-
-
Choi, M.1
Scholl, U.I.2
Yue, P.3
-
35
-
-
0034664733
-
P53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53
-
Oda K, Arakawa H, Tanaka T, et al. p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. Cell 2000;102:849-862.
-
(2000)
Cell
, vol.102
, pp. 849-862
-
-
Oda, K.1
Arakawa, H.2
Tanaka, T.3
-
36
-
-
18744388826
-
Grit, a GTPase-activating protein for the Rho family, regulates neurite extension through association with the TrkA receptor and N-Shc and CrkL/Crk adapter molecules
-
Nakamura T, Komiya M, Sone K, et al. Grit, a GTPase-activating protein for the Rho family, regulates neurite extension through association with the TrkA receptor and N-Shc and CrkL/Crk adapter molecules. Mol Cell Biol 2002;22:8721-8734.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 8721-8734
-
-
Nakamura, T.1
Komiya, M.2
Sone, K.3
-
37
-
-
33646741543
-
Role of the Rho GTPase-activating protein RICS in neurite outgrowth
-
Nasu-Nishimura Y, Hayashi T, Ohishi T, et al. Role of the Rho GTPase-activating protein RICS in neurite outgrowth. Genes Cells 2006;11:607-614.
-
(2006)
Genes Cells
, vol.11
, pp. 607-614
-
-
Nasu-Nishimura, Y.1
Hayashi, T.2
Ohishi, T.3
-
38
-
-
45849107222
-
Predisposition to late-onset obesity in GIRK4 knockout mice
-
Perry CA, Pravetoni M, Teske JA, et al. Predisposition to late-onset obesity in GIRK4 knockout mice. Proc Natl Acad Sci USA 2008;105:8148-8153.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 8148-8153
-
-
Perry, C.A.1
Pravetoni, M.2
Teske, J.A.3
-
39
-
-
80051920294
-
Genetics of autism spectrum disorders
-
Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011;15:409-416.
-
(2011)
Trends Cogn Sci
, vol.15
, pp. 409-416
-
-
Geschwind, D.H.1
-
41
-
-
84867172514
-
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
-
Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012;367: 1321-1331.
-
(2012)
N Engl J Med
, vol.367
, pp. 1321-1331
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Coe, B.P.3
|