-
1
-
-
0014654544
-
Rhabdomyosarcoma in children: Epidemiologic study and identification of a familial cancer syndrome
-
Li FP, Fraumeni Jr JF: Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 1969; 43: 1365-1373.
-
(1969)
J Natl Cancer Inst
, vol.43
, pp. 1365-1373
-
-
Li, F.P.1
Fraumeni Jr., J.F.2
-
2
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson Jr AG: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68: 820-823.
-
(1971)
Proc Natl Acad Sci USA
, vol.68
, pp. 820-823
-
-
Knudson Jr., A.G.1
-
3
-
-
0036182963
-
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
-
DOI 10.1086/338934
-
DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70: 604-611. (Pubitemid 34177916)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.3
, pp. 604-611
-
-
DeBaun, M.R.1
Niemitz, E.L.2
McNeil, D.E.3
Brandenburg, S.A.4
Lee, M.P.5
Feinberg, A.P.6
-
4
-
-
55049098900
-
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
-
Scott RH, Douglas J, Baskcomb L et al: Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet 2008; 40: 1329-1334.
-
(2008)
Nat Genet
, vol.40
, pp. 1329-1334
-
-
Scott, R.H.1
Douglas, J.2
Baskcomb, L.3
-
5
-
-
77957338939
-
Genomic imprinting syndromes and cancer
-
Lim DH, Maher ER: Genomic imprinting syndromes and cancer. Adv Genet 2010; 70: 145-175.
-
(2010)
Adv Genet
, vol.70
, pp. 145-175
-
-
Lim, D.H.1
Maher, E.R.2
-
6
-
-
29144453575
-
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation
-
DOI 10.1016/j.ejca.2005.07.027, PII S0959804905008725
-
Brichard B, Heusterspreute M, De Potter P et al: Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation. Eur J Cancer 2006; 42: 65-72. (Pubitemid 41814533)
-
(2006)
European Journal of Cancer
, vol.42
, Issue.1
, pp. 65-72
-
-
Brichard, B.1
Heusterspreute, M.2
De Potter, P.3
Chantrain, C.4
Vermylen, C.5
Sibille, C.6
Gala, J.-L.7
-
7
-
-
65249184393
-
Medulloblastoma variants: Age-dependent occurrence and relation to Gorlin syndrome-a new clinical perspective
-
Garre ML, Cama A, Bagnasco F et al: Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome-a new clinical perspective. Clin Cancer Res 2009; 15: 2463-2471.
-
(2009)
Clin Cancer Res
, vol.15
, pp. 2463-2471
-
-
Garre, M.L.1
Cama, A.2
Bagnasco, F.3
-
8
-
-
0015402175
-
Mutation and cancer: Neuroblastoma and pheochromocytoma
-
Knudson Jr AG, Strong LC: Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet 1972; 24: 514-532.
-
(1972)
Am J Hum Genet
, vol.24
, pp. 514-532
-
-
Knudson Jr., A.G.1
Strong, L.C.2
-
9
-
-
0031409095
-
Molecular genetic analysis of familial neuroblastoma
-
DOI 10.1016/S0959-8049(97)00265-7, PII S0959804997002657
-
Maris JM, Kyemba SM, Rebbeck TR et al: Molecular genetic analysis of familial neuroblastoma. Eur J Cancer 1997; 33: 1923-1928. (Pubitemid 28123426)
-
(1997)
European Journal of Cancer
, vol.33
, Issue.12
, pp. 1923-1928
-
-
Maris, J.M.1
Kyemba, S.M.2
Rebbeck, T.R.3
White, P.S.4
Sulman, E.P.5
Jensen, S.J.6
Allen, C.7
Biegel, J.A.8
Brodeur, G.M.9
-
10
-
-
8944253286
-
Familial predisposition to neuroblastoma does not map to chromosome band 1p36
-
Maris JM, Kyemba SM, Rebbeck TR et al: Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res 1996; 56: 3421-3425. (Pubitemid 26251630)
-
(1996)
Cancer Research
, vol.56
, Issue.15
, pp. 3421-3425
-
-
Maris, J.M.1
Kyemba, S.M.2
Rebbeck, T.R.3
White, P.S.4
Sulman, E.P.5
Jensen, S.J.6
Allen, C.7
Biegel, J.A.8
Yanofsky, R.A.9
Feldman, G.L.10
Brodeur, G.M.11
-
11
-
-
0037379890
-
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
-
DOI 10.1038/ng1130
-
Amiel J, Laudier B, Attie-Bitach T et al: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003; 33: 459-461. (Pubitemid 36390004)
-
(2003)
Nature Genetics
, vol.33
, Issue.4
, pp. 459-461
-
-
Amiel, J.1
Laudier, B.2
Attie-Bitach, T.3
Trang, H.4
De Pontual, L.5
Gener, B.6
Trochet, D.7
Etchevers, H.8
Ray, P.9
Simonneau, M.10
Vekemans, M.11
Munnich, A.12
Gaultier, C.13
Lyonnet, S.14
-
12
-
-
12144291333
-
Germline Mutations of the Paired-Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma
-
DOI 10.1086/383253
-
Trochet D, Bourdeaut F, Janoueix-Lerosey I et al: Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 2004; 74: 761-764. (Pubitemid 38420106)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.4
, pp. 761-764
-
-
Trochet, D.1
Bourdeaut, F.2
Janoueix-Lerosey, I.3
Deville, A.4
De Pontual, L.5
Schleiermacher, G.6
Coze, C.7
Philip, N.8
Frebourg, T.9
Munnich, A.10
Lyonnet, S.11
Delattre, O.12
Amiel, J.13
-
13
-
-
4544265599
-
Germline PHOX2B mutation in hereditary neuroblastoma [2]
-
DOI 10.1086/424530
-
Mosse YP, Laudenslager M, Khazi D et al: Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet 2004; 75: 727-730. (Pubitemid 39244788)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.4
, pp. 727-730
-
-
Mosse, Y.P.1
Laudenslager, M.2
Khazi, D.3
Carlisle, A.J.4
Winter, C.L.5
Rappaport, E.6
Maris, J.M.7
-
14
-
-
33751086166
-
Congenital central hypoventilation syndrome PHOX2B mutations and phenotype
-
DOI 10.1164/rccm.200602-305OC
-
Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE: Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006; 174: 1139-1144. (Pubitemid 44772085)
-
(2006)
American Journal of Respiratory and Critical Care Medicine
, vol.174
, Issue.10
, pp. 1139-1144
-
-
Berry-Kravis, E.M.1
Zhou, L.2
Rand, C.M.3
Weese-Mayer, D.E.4
-
15
-
-
33744827949
-
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations
-
DOI 10.1002/ajmg.a.31278
-
McConville C, Reid S, Baskcomb L, Douglas J, Rahman N: PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. Am J Med Genet A 2006; 140: 1297-1301. (Pubitemid 43835416)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.12
, pp. 1297-1301
-
-
McConville, C.1
Reid, S.2
Baskcomb, L.3
Douglas, J.4
Rahman, N.5
-
16
-
-
38349014102
-
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma
-
Raabe EH, Laudenslager M, Winter C et al: Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene 2008; 27: 469-476.
-
(2008)
Oncogene
, vol.27
, pp. 469-476
-
-
Raabe, E.H.1
Laudenslager, M.2
Winter, C.3
-
17
-
-
19944426569
-
The Phox2B homeobox gene is mutated in sporadic neuroblastomas
-
DOI 10.1038/sj.onc.1208157
-
van Limpt V, Schramm A, van Lakeman A et al: The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene 2004; 23: 9280-9288. (Pubitemid 40069698)
-
(2004)
Oncogene
, vol.23
, Issue.57
, pp. 9280-9288
-
-
Van Limpt, V.1
Schramm, A.2
Lakeman, A.3
Van Sluis, P.4
Chan, A.5
Van Noesel, M.6
Baas, F.7
Caron, H.8
Eggert, A.9
Versteeg, R.10
-
18
-
-
54049149961
-
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
-
Janoueix-Lerosey I, Lequin D, Brugieres L et al: Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature 2008; 455: 967-970.
-
(2008)
Nature
, vol.455
, pp. 967-970
-
-
Janoueix-Lerosey, I.1
Lequin, D.2
Brugieres, L.3
-
19
-
-
54049094708
-
Identification of ALK as a major familial neuroblastoma predisposition gene
-
Mosse YP, Laudenslager M, Longo L et al: Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 2008; 455: 930-935.
-
(2008)
Nature
, vol.455
, pp. 930-935
-
-
Mosse, Y.P.1
Laudenslager, M.2
Longo, L.3
-
20
-
-
58149289668
-
High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours
-
Caren H, Abel F, Kogner P, Martinsson T: High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. Biochem J 2008; 416: 153-159.
-
(2008)
Biochem J
, vol.416
, pp. 153-159
-
-
Caren, H.1
Abel, F.2
Kogner, P.3
Martinsson, T.4
-
21
-
-
54049118823
-
Oncogenic mutations of ALK kinase in neuroblastoma
-
Chen Y, Takita J, Choi YL et al: Oncogenic mutations of ALK kinase in neuroblastoma. Nature 2008; 455: 971-974.
-
(2008)
Nature
, vol.455
, pp. 971-974
-
-
Chen, Y.1
Takita, J.2
Choi, Y.L.3
-
22
-
-
77956244494
-
Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification
-
De Brouwer S, De Preter K, Kumps C et al: Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification. Clin Cancer Res 2010; 16: 4353-4362.
-
(2010)
Clin Cancer Res
, vol.16
, pp. 4353-4362
-
-
De Brouwer, S.1
De Preter, K.2
Kumps, C.3
-
23
-
-
54049120220
-
Activating mutations in ALK provide a therapeutic target in neuroblastoma
-
George RE, Sanda T, Hanna M et al: Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature 2008; 455: 975-978.
-
(2008)
Nature
, vol.455
, pp. 975-978
-
-
George, R.E.1
Sanda, T.2
Hanna, M.3
-
24
-
-
0024267867
-
Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy
-
DOI 10.1007/BF02388410
-
Roshkow JE, Haller JO, Berdon WE, Sane SM: Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy. Pediatr Radiol 1988; 19: 45-49. (Pubitemid 19011923)
-
(1988)
Pediatric Radiology
, vol.19
, Issue.1
, pp. 45-49
-
-
Roshkow, J.E.1
Haller, J.O.2
Berdon, W.E.3
Sane, S.M.4
-
25
-
-
0022610831
-
Familial neuroblastoma. Case reports, literature review, and etiologic considerations
-
Kushner BH, Gilbert F, Helson L: Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer 1986; 57: 1887-1893. (Pubitemid 16112007)
-
(1986)
Cancer
, vol.57
, Issue.9
, pp. 1887-1893
-
-
Kushner, B.H.1
Gilbert, F.2
Helson, L.3
-
26
-
-
78650206380
-
A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma
-
Abbaszadeh F, Barker KT, McConville C, Scott RH, Rahman N: A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma. Fam Cancer 2010; 9: 425-430.
-
(2010)
Fam Cancer
, vol.9
, pp. 425-430
-
-
Abbaszadeh, F.1
Barker, K.T.2
McConville, C.3
Scott, R.H.4
Rahman, N.5
-
27
-
-
2342474459
-
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
-
Matera I, Bachetti T, Puppo F et al: PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet 2004; 41: 373-380. (Pubitemid 38608521)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.5
, pp. 373-380
-
-
Matera, I.1
Bachetti, T.2
Puppo, F.3
Di Duca, M.4
Morandi, F.5
Casiraghi, G.M.6
Cilio, M.R.7
Hennekam, R.8
Hofstra, R.9
Schober, J.G.10
Ravazzolo, R.11
Ottonello, G.12
Ceccherini, I.13
-
28
-
-
79959890277
-
Anaplastic thyroid cancers harbor novel oncogenic mutations of the ALK gene
-
Murugan AK, Xing M: Anaplastic thyroid cancers harbor novel oncogenic mutations of the ALK gene. Cancer Res 2011; 71: 4403-4411.
-
(2011)
Cancer Res
, vol.71
, pp. 4403-4411
-
-
Murugan, A.K.1
Xing, M.2
-
29
-
-
79951795140
-
Germline gain-of-function mutations of ALK disrupt central nervous system development
-
de Pontual L, Kettaneh D, Gordon C et al: Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat 2011; 32: 272-276.
-
(2011)
Hum Mutat
, vol.32
, pp. 272-276
-
-
De Pontual, L.1
Kettaneh, D.2
Gordon, C.3
|