-
1
-
-
65449177228
-
Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature
-
Adriaensen M.E., Schaefer-Prokop C.M., Stijnen T., Duyndam D.A., Zonnenberg B.A., Prokop M. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur. J. Neurol. 2009 Jun, 16(6):691-696.
-
(2009)
Eur. J. Neurol.
, vol.16
, Issue.6
, pp. 691-696
-
-
Adriaensen, M.E.1
Schaefer-Prokop, C.M.2
Stijnen, T.3
Duyndam, D.A.4
Zonnenberg, B.A.5
Prokop, M.6
-
3
-
-
55449104590
-
Perlman syndrome: report, prenatal findings and review
-
Alessandri J.L., Cuillier F., Ramful D., et al. Perlman syndrome: report, prenatal findings and review. Am. J. Med. Genet. A 2008, 146A:2532-2537.
-
(2008)
Am. J. Med. Genet. A
, vol.146A
, pp. 2532-2537
-
-
Alessandri, J.L.1
Cuillier, F.2
Ramful, D.3
-
4
-
-
0037439356
-
Cancer in fanconi anemia, 1927-2001
-
Alter B.P. Cancer in fanconi anemia, 1927-2001. Cancer 2003, 97:425-440.
-
(2003)
Cancer
, vol.97
, pp. 425-440
-
-
Alter, B.P.1
-
5
-
-
40549106508
-
Diagnosis, genetics, and management of inherited bone marrow failure syndromes
-
Alter B.P. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematol. Am. Soc. Hematol. Educ. Program 2007, 29-39.
-
(2007)
Hematol. Am. Soc. Hematol. Educ. Program
, pp. 29-39
-
-
Alter, B.P.1
-
6
-
-
67650273697
-
Cancer in dyskeratosis congenita
-
Alter B.P., Giri N., Savage S.A., et al. Cancer in dyskeratosis congenita. Blood 2009, 113:6549-6557.
-
(2009)
Blood
, vol.113
, pp. 6549-6557
-
-
Alter, B.P.1
Giri, N.2
Savage, S.A.3
-
7
-
-
33846896438
-
Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis
-
Attard T.M., Giglio P., Koppula S., et al. Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis. Cancer 2007, 109:761-766.
-
(2007)
Cancer
, vol.109
, pp. 761-766
-
-
Attard, T.M.1
Giglio, P.2
Koppula, S.3
-
8
-
-
75449086092
-
Acute lymphoblastic leukemia in weaver syndrome
-
Basel-Vanagaite L. Acute lymphoblastic leukemia in weaver syndrome. Am. J. Med. Genet. A 2010, 152A:383-386.
-
(2010)
Am. J. Med. Genet. A
, vol.152A
, pp. 383-386
-
-
Basel-Vanagaite, L.1
-
9
-
-
77953985258
-
Peutz-Jeghers syndrome: a systematic review and recommendations for management
-
Beggs A.D., Latchford A.R., Vasen H.F., et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010, 59:975-986.
-
(2010)
Gut
, vol.59
, pp. 975-986
-
-
Beggs, A.D.1
Latchford, A.R.2
Vasen, H.F.3
-
10
-
-
0036488604
-
Second cancers in survivors of childhood cancer
-
Bhatia S., Sklar C. Second cancers in survivors of childhood cancer. Nat. Rev. Cancer. 2002, 2:124-132.
-
(2002)
Nat. Rev. Cancer.
, vol.2
, pp. 124-132
-
-
Bhatia, S.1
Sklar, C.2
-
11
-
-
68949207883
-
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome
-
Bianco B., Lipay M., Guedes A., et al. SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. Int. J. Gynecol. Pathol. 2009, 28:197-202.
-
(2009)
Int. J. Gynecol. Pathol.
, vol.28
, pp. 197-202
-
-
Bianco, B.1
Lipay, M.2
Guedes, A.3
-
12
-
-
80054972817
-
Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey
-
Bienemann K., Burkhardt B., Modlich S., et al. Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. Br. J. Haematol. 2011, 155:468-476.
-
(2011)
Br. J. Haematol.
, vol.155
, pp. 468-476
-
-
Bienemann, K.1
Burkhardt, B.2
Modlich, S.3
-
13
-
-
19544379183
-
Cancer risk in persons with oral cleft-a population-based study of 8,093 cases
-
Bille C., Winther J.F., Bautz A., et al. Cancer risk in persons with oral cleft-a population-based study of 8,093 cases. Am. J. Epidemiol. 2005, 161:1047-1055.
-
(2005)
Am. J. Epidemiol.
, vol.161
, pp. 1047-1055
-
-
Bille, C.1
Winther, J.F.2
Bautz, A.3
-
14
-
-
47649108452
-
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia
-
Bliek J., Maas S., Alders M., et al. Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. J. Pediatr. 2008, 153:95-100.
-
(2008)
J. Pediatr.
, vol.153
, pp. 95-100
-
-
Bliek, J.1
Maas, S.2
Alders, M.3
-
16
-
-
78751627817
-
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor
-
Bourdeaut F., Lequin D., Brugieres L., et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin. Cancer Res. 2011, 17:31-38.
-
(2011)
Clin. Cancer Res.
, vol.17
, pp. 31-38
-
-
Bourdeaut, F.1
Lequin, D.2
Brugieres, L.3
-
17
-
-
84863834071
-
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
-
Carlsson G., Fasth A., Berglof E., et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br. J. Haematol. 2012, 158:363-369.
-
(2012)
Br. J. Haematol.
, vol.158
, pp. 363-369
-
-
Carlsson, G.1
Fasth, A.2
Berglof, E.3
-
19
-
-
63449129594
-
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
-
Clericuzio C.L., Martin R.A. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet. Med. 2009, 11:220-222.
-
(2009)
Genet. Med.
, vol.11
, pp. 220-222
-
-
Clericuzio, C.L.1
Martin, R.A.2
-
20
-
-
84903819722
-
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations
-
De Kock L., Sabbaghian N., Plourde F., Srivastava A., Weber E., Bouron-Dal Soglio D., Hamel N., Choi J.H., Park S.H., Deal C.L., Kelsey M.M., Dishop M.K., Esbenshade A., Kuttesch J.F., Jacques T.S., Perry A., Leichter H., Maeder P., Brundler M.A., Warner J., Neal J., Zacharin M., Korbonits M., Cole T., Traunecker H., McLean T.W., Rotondo F., Lepage P., Albrecht S., Horvath E., Kovacs K., Priest J.R., Foulkes W.D. Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol. 2014, 128(1):111-122.
-
(2014)
Acta Neuropathol.
, vol.128
, Issue.1
, pp. 111-122
-
-
De Kock, L.1
Sabbaghian, N.2
Plourde, F.3
Srivastava, A.4
Weber, E.5
Bouron-Dal Soglio, D.6
Hamel, N.7
Choi, J.H.8
Park, S.H.9
Deal, C.L.10
Kelsey, M.M.11
Dishop, M.K.12
Esbenshade, A.13
Kuttesch, J.F.14
Jacques, T.S.15
Perry, A.16
Leichter, H.17
Maeder, P.18
Brundler, M.A.19
Warner, J.20
Neal, J.21
Zacharin, M.22
Korbonits, M.23
Cole, T.24
Traunecker, H.25
McLean, T.W.26
Rotondo, F.27
Lepage, P.28
Albrecht, S.29
Horvath, E.30
Kovacs, K.31
Priest, J.R.32
Foulkes, W.D.33
more..
-
21
-
-
84919917120
-
Germ-line and somatic DICER1 mutations in pineoblastoma
-
De Kock L., Sabbaghian N., Druker H., Weber E., Hamel N., Miller S., Choong C.S., Gottardo N.G., Kees U.R., Rednam S.P., van Hest L.P., Jongmans M.C., Jhangiani S., Lupski J.R., Zacharin M., Bouron-Dal Soglio D., Huang A., Priest J.R., Perry A., Mueller S., Albrecht S., Malkin D., Grundy R.G., Foulkes W.D. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014, 128(4):583-595.
-
(2014)
Acta Neuropathol.
, vol.128
, Issue.4
, pp. 583-595
-
-
De Kock, L.1
Sabbaghian, N.2
Druker, H.3
Weber, E.4
Hamel, N.5
Miller, S.6
Choong, C.S.7
Gottardo, N.G.8
Kees, U.R.9
Rednam, S.P.10
van Hest, L.P.11
Jongmans, M.C.12
Jhangiani, S.13
Lupski, J.R.14
Zacharin, M.15
Bouron-Dal Soglio, D.16
Huang, A.17
Priest, J.R.18
Perry, A.19
Mueller, S.20
Albrecht, S.21
Malkin, D.22
Grundy, R.G.23
Foulkes, W.D.24
more..
-
22
-
-
84890287257
-
Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer
-
Dekker N., Hermens R.P., Mensenkamp A.R., van Zelst-Stams W.A., Hoogerbrugge N. Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer. Colorectal Dis. 2014 Jan, 16(1):O26-O34.
-
(2014)
Colorectal Dis.
, vol.16
, Issue.1
, pp. O26-O34
-
-
Dekker, N.1
Hermens, R.P.2
Mensenkamp, A.R.3
van Zelst-Stams, W.A.4
Hoogerbrugge, N.5
-
23
-
-
80052089944
-
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
-
Dickinson R.E., Griffin H., Bigley V., et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011, 118(10):2656-2658.
-
(2011)
Blood
, vol.118
, Issue.10
, pp. 2656-2658
-
-
Dickinson, R.E.1
Griffin, H.2
Bigley, V.3
-
24
-
-
84857111277
-
Association of adrenocortical carcinoma with familial cancer susceptibility syndromes
-
Else T. Association of adrenocortical carcinoma with familial cancer susceptibility syndromes. Mol. Cell Endocrinol. 2012, 351:66-70.
-
(2012)
Mol. Cell Endocrinol.
, vol.351
, pp. 66-70
-
-
Else, T.1
-
25
-
-
0026043909
-
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma
-
Evans D.G., Farndon P.A., Burnell L.D., et al. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br. J. Cancer. 1991, 64:959-961.
-
(1991)
Br. J. Cancer.
, vol.64
, pp. 959-961
-
-
Evans, D.G.1
Farndon, P.A.2
Burnell, L.D.3
-
26
-
-
0026342687
-
Brain tumors and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome
-
Evans D.G., Birch J.M., Orton C.I. Brain tumors and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome. Br. J. Neurosurg. 1991, 5:643-646.
-
(1991)
Br. J. Neurosurg.
, vol.5
, pp. 643-646
-
-
Evans, D.G.1
Birch, J.M.2
Orton, C.I.3
-
27
-
-
0017060019
-
Sporadic bilateral retinoblastoma and 13q- chromosomal deletion
-
Francke U., Kung F. Sporadic bilateral retinoblastoma and 13q- chromosomal deletion. Med. Pediatr. Oncol. 1976, 2:379-385.
-
(1976)
Med. Pediatr. Oncol.
, vol.2
, pp. 379-385
-
-
Francke, U.1
Kung, F.2
-
28
-
-
32944469779
-
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
-
Frebourg T., Oliveira C., Hochain P., et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J. Med. Genet. 2006, 43:138-142.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 138-142
-
-
Frebourg, T.1
Oliveira, C.2
Hochain, P.3
-
29
-
-
34250772785
-
Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children
-
Friedrich R.E., Hartmann M., Mautner V.F. Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children. Anticancer Res. 2007, 27:1957-1960.
-
(2007)
Anticancer Res.
, vol.27
, pp. 1957-1960
-
-
Friedrich, R.E.1
Hartmann, M.2
Mautner, V.F.3
-
30
-
-
0022506980
-
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
-
Friend S.H., Bernards R., Rogelj S., et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986, 323:643-646.
-
(1986)
Nature
, vol.323
, pp. 643-646
-
-
Friend, S.H.1
Bernards, R.2
Rogelj, S.3
-
31
-
-
79958818307
-
Congenital amegakaryocytic thrombocytopenia
-
Geddis A.E. Congenital amegakaryocytic thrombocytopenia. Pediatr. Blood Cancer. 2011, 57:199-203.
-
(2011)
Pediatr. Blood Cancer.
, vol.57
, pp. 199-203
-
-
Geddis, A.E.1
-
33
-
-
0031052108
-
Bloom's syndrome. XX. The first 100 cancers
-
German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet. Cytogenet. 1997, 93:100-106.
-
(1997)
Cancer Genet. Cytogenet.
, vol.93
, pp. 100-106
-
-
German, J.1
-
34
-
-
0030478208
-
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis
-
Giardiello F.M., Petersen G.M., Brensinger J.D., et al. Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. Gut 1996, 39:867-869.
-
(1996)
Gut
, vol.39
, pp. 867-869
-
-
Giardiello, F.M.1
Petersen, G.M.2
Brensinger, J.D.3
-
37
-
-
0025938038
-
Identification and characterization of the familial adenomatous polyposis coli gene
-
Groden J., Thliveris A., Samowitz W., et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991, 66:589-600.
-
(1991)
Cell
, vol.66
, pp. 589-600
-
-
Groden, J.1
Thliveris, A.2
Samowitz, W.3
-
38
-
-
80053383273
-
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
-
Hahn C.N., Chong C.E., Carmichael C.L., Wilkins E.J., Brautigan P.J., Li X.C., Babic M., Lin M., Carmagnac A., Lee Y.K., Kok C.H., Gagliardi L., Friend K.L., Ekert P.G., Butcher C.M., Brown A.L., Lewis I.D., To L.B., Timms A.E., Storek J., Moore S., Altree M., Escher R., Bardy P.G., Suthers G.K., D'Andrea R.J., Horwitz M.S., Scott H.S. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat. Genet. 2011, 43:1012-1017.
-
(2011)
Nat. Genet.
, vol.43
, pp. 1012-1017
-
-
Hahn, C.N.1
Chong, C.E.2
Carmichael, C.L.3
Wilkins, E.J.4
Brautigan, P.J.5
Li, X.C.6
Babic, M.7
Lin, M.8
Carmagnac, A.9
Lee, Y.K.10
Kok, C.H.11
Gagliardi, L.12
Friend, K.L.13
Ekert, P.G.14
Butcher, C.M.15
Brown, A.L.16
Lewis, I.D.17
To, L.B.18
Timms, A.E.19
Storek, J.20
Moore, S.21
Altree, M.22
Escher, R.23
Bardy, P.G.24
Suthers, G.K.25
D'Andrea, R.J.26
Horwitz, M.S.27
Scott, H.S.28
more..
-
39
-
-
0022810104
-
Gardner syndrome in a man with an interstitial deletion of 5q
-
Herrera L., Kakati S., Gibas L., et al. Gardner syndrome in a man with an interstitial deletion of 5q. Am. J. Med. Genet. 1986, 25:473-476.
-
(1986)
Am. J. Med. Genet.
, vol.25
, pp. 473-476
-
-
Herrera, L.1
Kakati, S.2
Gibas, L.3
-
40
-
-
67749129007
-
DICER1 mutations in familial pleuropulmonary blastoma
-
Hill D.A., Ivanovich J., Priest J.R., et al. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009, 325:965.
-
(2009)
Science
, vol.325
, pp. 965
-
-
Hill, D.A.1
Ivanovich, J.2
Priest, J.R.3
-
41
-
-
84874647204
-
The genomic landscape of hypodiploid acute lymphoblastic leukemia
-
Holmfeldt L., Wei L., Diaz-Flores E., et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat. Genet. 2013, 45:242-252.
-
(2013)
Nat. Genet.
, vol.45
, pp. 242-252
-
-
Holmfeldt, L.1
Wei, L.2
Diaz-Flores, E.3
-
42
-
-
79961074298
-
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
-
Hsu A.P., Sampaio E.P., Khan J., et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011, 118(10):2653-2655.
-
(2011)
Blood
, vol.118
, Issue.10
, pp. 2653-2655
-
-
Hsu, A.P.1
Sampaio, E.P.2
Khan, J.3
-
43
-
-
0026629703
-
Risk of hepatoblastoma in familial adenomatous polyposis
-
Hughes L.J., Michels V.V. Risk of hepatoblastoma in familial adenomatous polyposis. Am. J. Med. Genet. 1992, 43:1023-1025.
-
(1992)
Am. J. Med. Genet.
, vol.43
, pp. 1023-1025
-
-
Hughes, L.J.1
Michels, V.V.2
-
44
-
-
9144241005
-
Clinical course of patients with WASP gene mutations
-
Imai K., Morio T., Zhu Y., et al. Clinical course of patients with WASP gene mutations. Blood 2004, 103:456-464.
-
(2004)
Blood
, vol.103
, pp. 456-464
-
-
Imai, K.1
Morio, T.2
Zhu, Y.3
-
45
-
-
0037089953
-
High risk of malignancy in mosaic variegated aneuploidy syndrome
-
Jacquemont S., Boceno M., Rival J.M., et al. High risk of malignancy in mosaic variegated aneuploidy syndrome. Am. J. Med. Genet. 2002, 109:17-21.
-
(2002)
Am. J. Med. Genet.
, vol.109
, pp. 17-21
-
-
Jacquemont, S.1
Boceno, M.2
Rival, J.M.3
-
46
-
-
79955437939
-
Basal cell carcinomas in gorlin syndrome: a review of 202 patients
-
Jones E.A., Sajid M.I., Shenton A., et al. Basal cell carcinomas in gorlin syndrome: a review of 202 patients. J. Skin. Cancer. 2011, 2011:217378.
-
(2011)
J. Skin. Cancer.
, vol.2011
, pp. 217378
-
-
Jones, E.A.1
Sajid, M.I.2
Shenton, A.3
-
47
-
-
79960636001
-
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
-
Jongmans M.C., van dB I., Hoogerbrugge P.M., et al. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur. J. Hum. Genet. 2011, 19:870-874.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 870-874
-
-
Jongmans, M.C.1
van dB, I.2
Hoogerbrugge, P.M.3
-
48
-
-
79551490927
-
Dermatological manifestations of inherited cancer syndromes in children
-
Karalis A., Tischkowitz M., Millington G.W. Dermatological manifestations of inherited cancer syndromes in children. Br. J. Dermatol. 2011, 164:245-256.
-
(2011)
Br. J. Dermatol.
, vol.164
, pp. 245-256
-
-
Karalis, A.1
Tischkowitz, M.2
Millington, G.W.3
-
49
-
-
66849142292
-
High frequency of tumors in mulibrey nanism
-
Karlberg N., Karlberg S., Karikoski R., et al. High frequency of tumors in mulibrey nanism. J. Pathol. 2009, 218:163-171.
-
(2009)
J. Pathol.
, vol.218
, pp. 163-171
-
-
Karlberg, N.1
Karlberg, S.2
Karikoski, R.3
-
51
-
-
0031002840
-
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
-
Kimonis V.E., Goldstein A.M., Pastakia B., et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am. J. Med. Genet. 1997, 69:299-308.
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 299-308
-
-
Kimonis, V.E.1
Goldstein, A.M.2
Pastakia, B.3
-
52
-
-
0025817880
-
Identification of FAP locus genes from chromosome 5q21
-
Kinzler K.W., Nilbert M.C., Su L.K., et al. Identification of FAP locus genes from chromosome 5q21. Science 1991, 253:661-665.
-
(1991)
Science
, vol.253
, pp. 661-665
-
-
Kinzler, K.W.1
Nilbert, M.C.2
Su, L.K.3
-
53
-
-
81155151775
-
Hereditary cancer risk assessment in a pediatric oncology follow-up clinic
-
Knapke S., Nagarajan R., Correll J., et al. Hereditary cancer risk assessment in a pediatric oncology follow-up clinic. Pediatr. Blood Cancer. 2012, 58:85-89.
-
(2012)
Pediatr. Blood Cancer.
, vol.58
, pp. 85-89
-
-
Knapke, S.1
Nagarajan, R.2
Correll, J.3
-
54
-
-
79955043471
-
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes
-
Kratz C.P., Rapisuwon S., Reed H., et al. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am. J. Med. Genet. C Semin. Med. Genet. 2011, 157:83-89.
-
(2011)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.157
, pp. 83-89
-
-
Kratz, C.P.1
Rapisuwon, S.2
Reed, H.3
-
55
-
-
84928205738
-
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
-
Kratz C.P., Franke L., Peters H., Kohlschmidt N., Kazmierczak B., Finckh U., Bier A., Eichhorn B., Blank C., Kraus C., Kohlhase J., Pauli S., Wildhardt G., Kutsche K., Auber B., Christmann A., Bachmann N., Mitter D., Cremer F.W., Mayer K., Daumer-Haas C., Nevinny-Stickel-Hinzpeter C., Oeffner F., Schlüter G., Gencik M., Überlacker B., Lissewski C., Schanze I., Greene M.H., Spix C., Zenker M. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br. J. Cancer 2015 Apr 14, 112(8):1392-1397.
-
(2015)
Br. J. Cancer
, vol.112
, Issue.8
, pp. 1392-1397
-
-
Kratz, C.P.1
Franke, L.2
Peters, H.3
Kohlschmidt, N.4
Kazmierczak, B.5
Finckh, U.6
Bier, A.7
Eichhorn, B.8
Blank, C.9
Kraus, C.10
Kohlhase, J.11
Pauli, S.12
Wildhardt, G.13
Kutsche, K.14
Auber, B.15
Christmann, A.16
Bachmann, N.17
Mitter, D.18
Cremer, F.W.19
Mayer, K.20
Daumer-Haas, C.21
Nevinny-Stickel-Hinzpeter, C.22
Oeffner, F.23
Schlüter, G.24
Gencik, M.25
Überlacker, B.26
Lissewski, C.27
Schanze, I.28
Greene, M.H.29
Spix, C.30
Zenker, M.31
more..
-
56
-
-
22144487341
-
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations
-
Krutilkova V., Trkova M., Fleitz J., et al. Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. Eur. J. Cancer. 2005, 41:1597-1603.
-
(2005)
Eur. J. Cancer.
, vol.41
, pp. 1597-1603
-
-
Krutilkova, V.1
Trkova, M.2
Fleitz, J.3
-
57
-
-
0030840785
-
Examine your orofacial cleft patients for Gorlin-Goltz syndrome
-
Lambrecht J.T., Kreusch T. Examine your orofacial cleft patients for Gorlin-Goltz syndrome. Cleft Palate Craniofac J. 1997, 34:342-350.
-
(1997)
Cleft Palate Craniofac J.
, vol.34
, pp. 342-350
-
-
Lambrecht, J.T.1
Kreusch, T.2
-
58
-
-
0031982161
-
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma
-
Lapunzina P., Badia I., Galoppo C., et al. A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. J. Med. Genet. 1998, 35:153-156.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 153-156
-
-
Lapunzina, P.1
Badia, I.2
Galoppo, C.3
-
59
-
-
4344670960
-
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review
-
Lapunzina P., Gairi A., Delicado A., et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am. J. Med. Genet. A 2004, 130A:45-51.
-
(2004)
Am. J. Med. Genet. A
, vol.130A
, pp. 45-51
-
-
Lapunzina, P.1
Gairi, A.2
Delicado, A.3
-
61
-
-
58149151088
-
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
-
Lo M.L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J. Rare Dis. 2008, 3:32.
-
(2008)
Orphanet J. Rare Dis.
, vol.3
, pp. 32
-
-
Lo, M.L.1
-
62
-
-
79951979515
-
Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia
-
Loh M.L. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br. J. Haematol. 2011, 152:677-687.
-
(2011)
Br. J. Haematol.
, vol.152
, pp. 677-687
-
-
Loh, M.L.1
-
63
-
-
79956317112
-
Von Hippel-Lindau disease: a clinical and scientific review
-
Maher E.R., Neumann H.P., Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur. J. Hum. Genet. 2011, 19:617-623.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 617-623
-
-
Maher, E.R.1
Neumann, H.P.2
Richard, S.3
-
65
-
-
0034934179
-
Hepatoblastoma associated with trisomy 18 syndrome: a case report and a review of the literature
-
Maruyama K., Ikeda H., Koizumi T. Hepatoblastoma associated with trisomy 18 syndrome: a case report and a review of the literature. Pediatr. Int. 2001, 43:302-305.
-
(2001)
Pediatr. Int.
, vol.43
, pp. 302-305
-
-
Maruyama, K.1
Ikeda, H.2
Koizumi, T.3
-
66
-
-
63449134714
-
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
-
Maserati E., Pressato B., Valli R., et al. The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. Br. J. Haematol. 2009, 145:190-197.
-
(2009)
Br. J. Haematol.
, vol.145
, pp. 190-197
-
-
Maserati, E.1
Pressato, B.2
Valli, R.3
-
67
-
-
34447328730
-
Further evidence of the increased risk for malignant peripheral nerve sheath tumor from a Scottish cohort of patients with neurofibromatosis type 1
-
McCaughan J.A., Holloway S.M., Davidson R., et al. Further evidence of the increased risk for malignant peripheral nerve sheath tumor from a Scottish cohort of patients with neurofibromatosis type 1. J. Med. Genet. 2007, 44:463-466.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 463-466
-
-
McCaughan, J.A.1
Holloway, S.M.2
Davidson, R.3
-
68
-
-
15944401335
-
High incidence of malformation syndromes in a series of 1,073 children with cancer
-
Merks J.H., Caron H.N., Hennekam R.C. High incidence of malformation syndromes in a series of 1,073 children with cancer. Am. J. Med. Genet. A 2005, 134A:132-143.
-
(2005)
Am. J. Med. Genet. A
, vol.134A
, pp. 132-143
-
-
Merks, J.H.1
Caron, H.N.2
Hennekam, R.C.3
-
69
-
-
38049088135
-
Prevalence and patterns of morphological abnormalities in patients with childhood cancer
-
Merks J.H., Ozgen H.M., Koster J., Zwinderman A.H., Caron H.N., Hennekam R.C. Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA 2008 Jan 2, 299(1):61-69.
-
(2008)
JAMA
, vol.299
, Issue.1
, pp. 61-69
-
-
Merks, J.H.1
Ozgen, H.M.2
Koster, J.3
Zwinderman, A.H.4
Caron, H.N.5
Hennekam, R.C.6
-
71
-
-
84930051063
-
PIK3CA-Related segmental overgrowth
-
[Internet]. Seattle (WA), University of Washington, Seattle, 1993-2015, R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.)
-
® 2013, [Internet]. Seattle (WA), University of Washington, Seattle, 1993-2015. R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
-
(2013)
®
-
-
Mirzaa, G.1
Conway, R.2
Graham, J.M.3
Dobyns, W.B.4
-
72
-
-
84959085716
-
Familial mosaic monosomy 7 syndrome
-
[updated 2013 Feb 07], R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.)
-
® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015 2010 Jul 08, [updated 2013 Feb 07]. R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
-
(2010)
® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015
-
-
Morrissette, J.J.D.1
de Chadarévian, J.P.2
Kolb, E.A.3
-
73
-
-
54049094708
-
Identification of ALK as a major familial neuroblastoma predisposition gene
-
Mosse Y.P., 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
-
74
-
-
0025893028
-
An estimate of the heritable fraction of childhood cancer
-
Narod S.A., Stiller C., Lenoir G.M. An estimate of the heritable fraction of childhood cancer. Br. J. Cancer. 1991, 63:993-999.
-
(1991)
Br. J. Cancer.
, vol.63
, pp. 993-999
-
-
Narod, S.A.1
Stiller, C.2
Lenoir, G.M.3
-
75
-
-
0031027499
-
Congenital anomalies and childhood cancer in Great Britain
-
Narod S.A., Hawkins M.M., Robertson C.M., Stiller C.A. Congenital anomalies and childhood cancer in Great Britain. Am. J. Hum. Genet. 1997 Mar, 60(3):474-485.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, Issue.3
, pp. 474-485
-
-
Narod, S.A.1
Hawkins, M.M.2
Robertson, C.M.3
Stiller, C.A.4
-
76
-
-
84896739101
-
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
-
Nieuwenhuis M.H., Kets C.M., Murphy-Ryan M., Yntema H.G., Evans D.G., Colas C., Møller P., Hes F.J., Hodgson S.V., Olderode-Berends M.J., Aretz S., Heinimann K., Gómez García E.B., Douglas F., Spigelman A., Timshel S., Lindor N.M., Vasen H.F. Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam. Cancer 2014 Mar, 13(1):57-63.
-
(2014)
Fam. Cancer
, vol.13
, Issue.1
, pp. 57-63
-
-
Nieuwenhuis, M.H.1
Kets, C.M.2
Murphy-Ryan, M.3
Yntema, H.G.4
Evans, D.G.5
Colas, C.6
Møller, P.7
Hes, F.J.8
Hodgson, S.V.9
Olderode-Berends, M.J.10
Aretz, S.11
Heinimann, K.12
Gómez García, E.B.13
Douglas, F.14
Spigelman, A.15
Timshel, S.16
Lindor, N.M.17
Vasen, H.F.18
-
77
-
-
84929130522
-
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lyphoblastic leukemia
-
Noetzli L., Lo R.W., Lee-Sherick A.B., Callaghan M., Noris P., Savoia A., Rajpurkar M., Jones K., Gowan K., Balduini C.L., Pecci A., Gnan C., De Rocco D., Doubek M., Li L., Lu L., Leung R., Landolt-Marticorena C., Hunger S., Heller P., Gutierrez-Hartmann A., Xiayuan L., Pluthero F.G., Rowley J.W., Weyrich A.S., Kahr W.H., Porter C.C., Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lyphoblastic leukemia. Nat. Genet. 2015 May, 47(5):535-538.
-
(2015)
Nat. Genet.
, vol.47
, Issue.5
, pp. 535-538
-
-
Noetzli, L.1
Lo, R.W.2
Lee-Sherick, A.B.3
Callaghan, M.4
Noris, P.5
Savoia, A.6
Rajpurkar, M.7
Jones, K.8
Gowan, K.9
Balduini, C.L.10
Pecci, A.11
Gnan, C.12
De Rocco, D.13
Doubek, M.14
Li, L.15
Lu, L.16
Leung, R.17
Landolt-Marticorena, C.18
Hunger, S.19
Heller, P.20
Gutierrez-Hartmann, A.21
Xiayuan, L.22
Pluthero, F.G.23
Rowley, J.W.24
Weyrich, A.S.25
Kahr, W.H.26
Porter, C.C.27
Di Paola, J.28
more..
-
78
-
-
84887332514
-
ANKRD26-related thrombocytopenia and myeloid malignancies
-
Noris P., Favier R., Alessi M.C., Geddis A.E., Kunishima S., Heller P.G., Giordano P., Niederhoffer K.Y., Bussel J.B., Podda G.M., Vianelli N., Kersseboom R., Pecci A., Gnan C., Marconi C., Auvrignon A., Cohen W., Yu J.C., Iguchi A., Miller Imahiyerobo A., Boehlen F., Ghalloussi D., De Rocco D., Magini P., Civaschi E., Biino G., Seri M., Savoia A., Balduini C.L. ANKRD26-related thrombocytopenia and myeloid malignancies. Blood 2013 Sep 12, 122(11):1987-1989.
-
(2013)
Blood
, vol.122
, Issue.11
, pp. 1987-1989
-
-
Noris, P.1
Favier, R.2
Alessi, M.C.3
Geddis, A.E.4
Kunishima, S.5
Heller, P.G.6
Giordano, P.7
Niederhoffer, K.Y.8
Bussel, J.B.9
Podda, G.M.10
Vianelli, N.11
Kersseboom, R.12
Pecci, A.13
Gnan, C.14
Marconi, C.15
Auvrignon, A.16
Cohen, W.17
Yu, J.C.18
Iguchi, A.19
Miller Imahiyerobo, A.20
Boehlen, F.21
Ghalloussi, D.22
De Rocco, D.23
Magini, P.24
Civaschi, E.25
Biino, G.26
Seri, M.27
Savoia, A.28
Balduini, C.L.29
more..
-
79
-
-
84901344345
-
Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment
-
Jyothi S, Lissauer S, Welch S, Hackett S. Immune deficiencies in children: an overview. Arch Dis Child Educ Pract Ed. 2013 Oct;98(5):186-96
-
Ochs H.D., Hagin D. Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment. Ann. Allergy Asthma Immunol. 2014 Jun, 112(6):489-495. Jyothi S, Lissauer S, Welch S, Hackett S. Immune deficiencies in children: an overview. Arch Dis Child Educ Pract Ed. 2013 Oct;98(5):186-96.
-
(2014)
Ann. Allergy Asthma Immunol.
, vol.112
, Issue.6
, pp. 489-495
-
-
Ochs, H.D.1
Hagin, D.2
-
80
-
-
0034979372
-
Regulation of antigen receptor gene assembly in lymphocytes
-
Oltz E.M. Regulation of antigen receptor gene assembly in lymphocytes. Immunol. Res. 2001, 23:121-133.
-
(2001)
Immunol. Res.
, vol.23
, pp. 121-133
-
-
Oltz, E.M.1
-
81
-
-
58149378467
-
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
-
Owen C.J., Toze C.L., Koochin A., et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008, 112:4639-4645.
-
(2008)
Blood
, vol.112
, pp. 4639-4645
-
-
Owen, C.J.1
Toze, C.L.2
Koochin, A.3
-
82
-
-
0025865691
-
Lhermitte-Duclos disease and Cowden disease: a single phakomatosis
-
Padberg G.W., Schot J.D., Vielvoye G.J., Bots G.T., de Beer F.C. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann. Neurol. 1991 May, 29(5):517-523.
-
(1991)
Ann. Neurol.
, vol.29
, Issue.5
, pp. 517-523
-
-
Padberg, G.W.1
Schot, J.D.2
Vielvoye, G.J.3
Bots, G.T.4
de Beer, F.C.5
-
83
-
-
80053569310
-
Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia
-
Ripperger T., Tauscher M., Praulich I., et al. Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia. Br. J. Haematol. 2011, 155:209-217.
-
(2011)
Br. J. Haematol.
, vol.155
, pp. 209-217
-
-
Ripperger, T.1
Tauscher, M.2
Praulich, I.3
-
84
-
-
84857918921
-
Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes
-
Rodriguez F.J., Stratakis C.A., Evans D.G. Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes. Acta Neuropathol. 2012, 123:349-367.
-
(2012)
Acta Neuropathol.
, vol.123
, pp. 349-367
-
-
Rodriguez, F.J.1
Stratakis, C.A.2
Evans, D.G.3
-
85
-
-
0036700292
-
Intracranial neoplasms in children with neurofibromatosis 1
-
Rosser T., Packer R.J. Intracranial neoplasms in children with neurofibromatosis 1. J. Child. Neurol. 2002, 17:630-637.
-
(2002)
J. Child. Neurol.
, vol.17
, pp. 630-637
-
-
Rosser, T.1
Packer, R.J.2
-
86
-
-
21644461973
-
Tumor risk in Beckwith-Wiedemann syndrome: a review and meta-analysis
-
Rump P., Zeegers M.P., van Essen A.J. Tumor risk in Beckwith-Wiedemann syndrome: a review and meta-analysis. Am. J. Med. Genet. A 2005, 136:95-104.
-
(2005)
Am. J. Med. Genet. A
, vol.136
, pp. 95-104
-
-
Rump, P.1
Zeegers, M.P.2
van Essen, A.J.3
-
87
-
-
33749266701
-
Syndromes and constitutional chromosomal abnormalities associated with wilms tumor
-
Scott R.H., Stiller C.A., Walker L., et al. Syndromes and constitutional chromosomal abnormalities associated with wilms tumor. J. Med. Genet. 2006, 43:705-715.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 705-715
-
-
Scott, R.H.1
Stiller, C.A.2
Walker, L.3
-
88
-
-
77957263081
-
The diagnostic and clinical significance of cafe-au-lait macules
-
Shah K.N. The diagnostic and clinical significance of cafe-au-lait macules. Pediatr. Clin. North Am. 2010, 57:1131-1153.
-
(2010)
Pediatr. Clin. North Am.
, vol.57
, pp. 1131-1153
-
-
Shah, K.N.1
-
89
-
-
0030028939
-
Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B
-
Skinner M.A., DeBenedetti M.K., Moley J.F., et al. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J. Pediatr. Surg. 1996, 31:177-181.
-
(1996)
J. Pediatr. Surg.
, vol.31
, pp. 177-181
-
-
Skinner, M.A.1
DeBenedetti, M.K.2
Moley, J.F.3
-
90
-
-
79958127479
-
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma
-
Slade I., Murray A., Hanks S., et al. Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. Fam. Cancer. 2011, 10:337-342.
-
(2011)
Fam. Cancer.
, vol.10
, pp. 337-342
-
-
Slade, I.1
Murray, A.2
Hanks, S.3
-
91
-
-
79953699619
-
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome
-
Slade I., Bacchelli C., Davies H., et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome. J. Med. Genet. 2011, 48:273-278.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 273-278
-
-
Slade, I.1
Bacchelli, C.2
Davies, H.3
-
92
-
-
0028116532
-
A multiinstitutional survey of the Wiskott-Aldrich syndrome
-
Sullivan K.E., Mullen C.A., Blaese R.M., et al. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J. Pediatr. 1994, 125:876-885.
-
(1994)
J. Pediatr.
, vol.125
, pp. 876-885
-
-
Sullivan, K.E.1
Mullen, C.A.2
Blaese, R.M.3
-
93
-
-
79955043828
-
Late recurrence of childhood t-cell acute lymphoblastic leukemia frequently represents a second leukemia rather than a relapse: first evidence for genetic predisposition
-
Szczepanski T., van der Velden V.H., Waanders E., Kuiper R.P., Van Vlierberghe P., Gruhn B., Eckert C., Panzer-Grümayer R., Basso G., Cavé H., Stadt U.Z., Campana D., Schrauder A., Sutton R., van Wering E., Meijerink J.P., van Dongen J.J. Late recurrence of childhood t-cell acute lymphoblastic leukemia frequently represents a second leukemia rather than a relapse: first evidence for genetic predisposition. J. Clin. Oncol. 2011 Apr 20, 29(12):1643-1649.
-
(2011)
J. Clin. Oncol.
, vol.29
, Issue.12
, pp. 1643-1649
-
-
Szczepanski, T.1
van der Velden, V.H.2
Waanders, E.3
Kuiper, R.P.4
Van Vlierberghe, P.5
Gruhn, B.6
Eckert, C.7
Panzer-Grümayer, R.8
Basso, G.9
Cavé, H.10
Stadt, U.Z.11
Campana, D.12
Schrauder, A.13
Sutton, R.14
van Wering, E.15
Meijerink, J.P.16
van Dongen, J.J.17
-
94
-
-
51449112807
-
Extended follow-up of the finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma
-
Taskinen M., Ranki A., Pukkala E., et al. Extended follow-up of the finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. Am. J. Med. Genet. A 2008, 146A:2370-2375.
-
(2008)
Am. J. Med. Genet. A
, vol.146A
, pp. 2370-2375
-
-
Taskinen, M.1
Ranki, A.2
Pukkala, E.3
-
96
-
-
0036648241
-
Mutations in SUFU predispose to medulloblastoma
-
Taylor M.D., Liu L., Raffel C., et al. Mutations in SUFU predispose to medulloblastoma. Nat. Genet. 2002, 31:306-310.
-
(2002)
Nat. Genet.
, vol.31
, pp. 306-310
-
-
Taylor, M.D.1
Liu, L.2
Raffel, C.3
-
97
-
-
48149086402
-
Immunodeficiency-associated lymphomas
-
Tran H., Nourse J., Hall S., et al. Immunodeficiency-associated lymphomas. Blood Rev. 2008, 22:261-281.
-
(2008)
Blood Rev.
, vol.22
, pp. 261-281
-
-
Tran, H.1
Nourse, J.2
Hall, S.3
-
98
-
-
26944452857
-
Cumulative absolute breast cancer risk for young women treated for hodgkin lymphoma
-
Travis L.B., Hill D., Dores G.M., et al. Cumulative absolute breast cancer risk for young women treated for hodgkin lymphoma. J. Natl. Cancer Inst. 2005, 97:1428-1437.
-
(2005)
J. Natl. Cancer Inst.
, vol.97
, pp. 1428-1437
-
-
Travis, L.B.1
Hill, D.2
Dores, G.M.3
-
99
-
-
2642647094
-
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
-
Versteege I., Sevenet N., Lange J., et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998, 394:203-206.
-
(1998)
Nature
, vol.394
, pp. 203-206
-
-
Versteege, I.1
Sevenet, N.2
Lange, J.3
-
100
-
-
84860338982
-
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
-
Vlachos A., Rosenberg P.S., Atsidaftos E., et al. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood 2012, 119:3815-3819.
-
(2012)
Blood
, vol.119
, pp. 3815-3819
-
-
Vlachos, A.1
Rosenberg, P.S.2
Atsidaftos, E.3
-
101
-
-
33745876263
-
A prospective study of neurofibromatosis type 1 cancer incidence in the UK
-
Walker L., Thompson D., Easton D., et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br. J. Cancer. 2006, 95:233-238.
-
(2006)
Br. J. Cancer.
, vol.95
, pp. 233-238
-
-
Walker, L.1
Thompson, D.2
Easton, D.3
-
102
-
-
0031007587
-
Complications of the nevoid basal cell carcinoma syndrome: a case report
-
Walter A.W., Pivnick E.K., Bale A.E., et al. Complications of the nevoid basal cell carcinoma syndrome: a case report. J. Pediatr. Hematol. Oncol. 1997, 19:258-262.
-
(1997)
J. Pediatr. Hematol. Oncol.
, vol.19
, pp. 258-262
-
-
Walter, A.W.1
Pivnick, E.K.2
Bale, A.E.3
-
103
-
-
0035934019
-
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients
-
Wang L.L., Levy M.L., Lewis R.A., et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am. J. Med. Genet. 2001, 102:11-17.
-
(2001)
Am. J. Med. Genet.
, vol.102
, pp. 11-17
-
-
Wang, L.L.1
Levy, M.L.2
Lewis, R.A.3
-
104
-
-
0002229288
-
Ataxia-telangiectasia variants (Nijmegen breakage syndrome)
-
Oxford University Press, H.D. Ochs, C.I.E. Smith, J.M. Puck (Eds.)
-
Wegner R.D., Chrzanowska K.H., Sperling K., et al. Ataxia-telangiectasia variants (Nijmegen breakage syndrome). Primary Immunodeficiency Diseases, a Molecular and Genetic Approach 1999, Oxford University Press. H.D. Ochs, C.I.E. Smith, J.M. Puck (Eds.).
-
(1999)
Primary Immunodeficiency Diseases, a Molecular and Genetic Approach
-
-
Wegner, R.D.1
Chrzanowska, K.H.2
Sperling, K.3
-
105
-
-
50649111364
-
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
-
Wimmer K., Etzler J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?. Hum. Genet. 2008, 124:105-122.
-
(2008)
Hum. Genet.
, vol.124
, pp. 105-122
-
-
Wimmer, K.1
Etzler, J.2
-
106
-
-
84899637126
-
Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American society of clinical oncology quality oncology practice Initiative
-
Wood M.E., Kadlubek P., Pham T.H., et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American society of clinical oncology quality oncology practice Initiative. J. Clin. Oncol. 2014, 32:824-829.
-
(2014)
J. Clin. Oncol.
, vol.32
, pp. 824-829
-
-
Wood, M.E.1
Kadlubek, P.2
Pham, T.H.3
-
107
-
-
84926216729
-
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
-
Zhang M.Y., Churpek J.E., Keel S.B., Walsh T., Lee M.K., Loeb K.R., Gulsuner S., Pritchard C.C., Sanchez-Bonilla M., Delrow J.J., Basom R.S., Forouhar M., Gyurkocza B., Schwartz B.S., Neistadt B., Marquez R., Mariani C.J., Coats S.A., Hofmann I., Lindsley R.C., Williams D.A., Abkowitz J.L., Horwitz M.S., King M.C., Godley L.A., Shimamura A. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat. Genet. 2015 Feb, 47(2):180-185.
-
(2015)
Nat. Genet.
, vol.47
, Issue.2
, pp. 180-185
-
-
Zhang, M.Y.1
Churpek, J.E.2
Keel, S.B.3
Walsh, T.4
Lee, M.K.5
Loeb, K.R.6
Gulsuner, S.7
Pritchard, C.C.8
Sanchez-Bonilla, M.9
Delrow, J.J.10
Basom, R.S.11
Forouhar, M.12
Gyurkocza, B.13
Schwartz, B.S.14
Neistadt, B.15
Marquez, R.16
Mariani, C.J.17
Coats, S.A.18
Hofmann, I.19
Lindsley, R.C.20
Williams, D.A.21
Abkowitz, J.L.22
Horwitz, M.S.23
King, M.C.24
Godley, L.A.25
Shimamura, A.26
more..
|