-
3
-
-
28044438672
-
Advances in overgrowth syndromes: Clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome
-
Cytrynbaum CS, Smith AC, Rubin T, Weksberg R: Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr 2005;17:740-706.
-
(2005)
Curr Opin Pediatr
, vol.17
, pp. 740-706
-
-
Cytrynbaum, C.S.1
Smith, A.C.2
Rubin, T.3
Weksberg, R.4
-
4
-
-
38149091915
-
Genetic testing and tumor surveillance for children with cancer predisposition syndromes
-
Rao A, Rothman J, Nichols KE: Genetic testing and tumor surveillance for children with cancer predisposition syndromes. Curr Opin Pediatr 2008;20: 1-7.
-
(2008)
Curr Opin Pediatr
, vol.20
, pp. 1-7
-
-
Rao, A.1
Rothman, J.2
Nichols, K.E.3
-
5
-
-
40349093037
-
Epigenetics and assisted reproductive technologies: Human imprinting syndromes
-
Lawrence LT, Moley KH: Epigenetics and assisted reproductive technologies: human imprinting syndromes. Semin Reprod Med. 2008;26:143-152.
-
(2008)
Semin Reprod Med
, vol.26
, pp. 143-152
-
-
Lawrence, L.T.1
Moley, K.H.2
-
6
-
-
0032475859
-
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
-
Neri G, Gurrieri F, Zanni G, Lin A: Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 1998;79:279-283.
-
(1998)
Am J Med Genet
, vol.79
, pp. 279-283
-
-
Neri, G.1
Gurrieri, F.2
Zanni, G.3
Lin, A.4
-
7
-
-
0035715062
-
Simpson Golabi Behmel syndrome: Progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition
-
DeBaun MR, Ess J, Saunders S: Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition. Mol Genet Metab 2001; 72:279-286.
-
(2001)
Mol Genet Metab
, vol.72
, pp. 279-286
-
-
DeBaun, M.R.1
Ess, J.2
Saunders, S.3
-
9
-
-
0041304765
-
Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes
-
Cohen MM Jr: Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J Med Genet [C] 2003;117:49-56.
-
(2003)
Am J Med Genet
, vol.100
, Issue.117
, pp. 49-56
-
-
Cohen Jr, M.M.1
-
10
-
-
21644437055
-
Molecular basis of Sotos syndrome
-
Niikawa N: Molecular basis of Sotos syndrome. Horm Res 2004;62(suppl 3):60-65.
-
(2004)
Horm Res
, vol.62
, Issue.SUPPL. 3
, pp. 60-65
-
-
Niikawa, N.1
-
11
-
-
33746661657
-
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
-
Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten J P, Rahman N: Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet 2005;42:e5.
-
(2005)
J Med Genet
, vol.42
-
-
Douglas, J.1
Tatton-Brown, K.2
Coleman, K.3
Guerrero, S.4
Berg, J.5
Cole, T.R.6
Fitzpatrick, D.7
Gillerot, Y.8
Hughes, H.E.9
Pilz, D.10
Raymond, F.L.11
Temple, I.K.12
Irrthum, A.13
Schouten, J.P.14
Rahman, N.15
-
13
-
-
0037217478
-
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
-
Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003;72:132-143.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 132-143
-
-
Douglas, J.1
Hanks, S.2
Temple, I.K.3
Davies, S.4
Murray, A.5
Upadhyaya, M.6
Tomkins, S.7
Hughes, H.E.8
Cole, T.R.9
Rahman, N.10
-
14
-
-
0033615472
-
Perlman syndrome: Four additional cases and review
-
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ: Perlman syndrome: four additional cases and review. Am J Med Genet 1999; 86:439-446.
-
(1999)
Am J Med Genet
, vol.86
, pp. 439-446
-
-
Henneveld, H.T.1
van Lingen, R.A.2
Hamel, B.C.3
Stolte-Dijkstra, I.4
van Essen, A.J.5
-
15
-
-
35548931480
-
The phakomatoses: Dermatologic clues to neurologic anomalies
-
Nowak CB: The phakomatoses: dermatologic clues to neurologic anomalies. Semin Pediatr Neurol 2007;14:140-149.
-
(2007)
Semin Pediatr Neurol
, vol.14
, pp. 140-149
-
-
Nowak, C.B.1
-
16
-
-
0032853452
-
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
-
Marsh DJ, Kum JB, Lunetta KL, et al: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-1472.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1461-1472
-
-
Marsh, D.J.1
Kum, J.B.2
Lunetta, K.L.3
-
17
-
-
36349022568
-
22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
-
Cusmano-Ozog K, Manning MA, Hoyme HE: 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet [C] 2007;145:393-398.
-
(2007)
Am J Med Genet
, vol.100
, Issue.145
, pp. 393-398
-
-
Cusmano-Ozog, K.1
Manning, M.A.2
Hoyme, H.E.3
-
18
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsäter H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Rogé B, Héron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007;39:25-27.
-
(2007)
Nat Genet
, vol.39
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
Bockmann, J.4
Chaste, P.5
Fauchereau, F.6
Nygren, G.7
Rastam, M.8
Gillberg, I.C.9
Anckarsäter, H.10
Sponheim, E.11
Goubran-Botros, H.12
Delorme, R.13
Chabane, N.14
Mouren-Simeoni, M.C.15
de Mas, P.16
Bieth, E.17
Rogé, B.18
Héron, D.19
Burglen, L.20
Gillberg, C.21
Leboyer, M.22
Bourgeron, T.23
more..
-
19
-
-
0029967022
-
Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization: review of the literature and expansion of the phenotype
-
Bielanska MM, Khalifa MM, Duncan AM: Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization: review of the literature and expansion of the phenotype. Am J Med Genet 1996;65:104-108.
-
(1996)
Am J Med Genet
, vol.65
, pp. 104-108
-
-
Bielanska, M.M.1
Khalifa, M.M.2
Duncan, A.M.3
-
20
-
-
0033034175
-
Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: A pitfall in prenatal diagnosis
-
Zollino M, Bajer J, Neri G: Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis. Prenat Diagn 1999;19:184-185.
-
(1999)
Prenat Diagn
, vol.19
, pp. 184-185
-
-
Zollino, M.1
Bajer, J.2
Neri, G.3
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