Beckwith-Wiedemann syndrome

Weksberg, Rosanna; Shuman, Cheryl; Smith, Adam C.

doi:10.1002/ajmg.c.30058

Cited by 307Genetic Syndromes and ImprintingBirth, Development, and HealthEpigenetics and DNA Methylation

Beckwith-Wiedemann syndrome

Weksberg, Rosanna, Shuman, Cheryl, Smith, Adam C.·2005·American Journal of Medical Genetics Part C Seminars in Medical Genetics

DOI 10.1002/ajmg.c.30058

Open this paper in CoChat — free account

Abstract

Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype-phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre-implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling.

Integrity signals

Registry

Crossref · 10.1002/ajmg.c.30058

Cites

89 of 89 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

The common sequelae of these changes are upregulation of IGF2 expression and downregulation of the other two transcripts.
“The common sequelae of all these changes are an upregulation of IGF2 expression and a downregulation of the other two transcripts (41).”
From Adrenocortical carcinoma (2014) · cites this paper as [41]
A hallmark of BWS spectrum disorders is alterations of DNA methylation of the 11p15 locus, which harbors IGF2, CDKN1C, and H19.
“A hallmark is alterations of DNA methylation of the 11p15 locus, which harbors the coding regions for IGF2, the cell cycle regulator CDKN1C, and the nontranslated RNA, H19 (41).”
From Adrenocortical carcinoma (2014) · cites this paper as [41]

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
Hark, A. T., Schoenherr, C. J., Katz, D. J., Ingram, R. S., Levorse, J. M., & Tilghman, S. M. (2000) · Nature · doi:10.1038/35013106 · Cited by 1,547 · see citing works
Epigenetics: Regulation Through Repression
Wolffe, A. P., & Matzke, M. A. (1999) · Science · doi:10.1126/science.286.5439.481 · Cited by 1,241 · see citing works
Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19
DeBaun, M. R., Niemitz, E. L., & Feinberg, A. P. (2003) · The American Journal of Human Genetics · doi:10.1086/346031 · Cited by 917 · see citing works
Relaxation of imprinted genes in human cancer
Rainier, S. R., Johnson, L. A., Dobry, C. J., Ping, A. J., Grundy, P. E., & Feinberg, A. P. (1993) · Nature · doi:10.1038/362747a0 · Cited by 790 · see citing works
Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
Ogawa, O., Eccles, M. R., Szeto, J., McNoe, L. A., Yun, K., Maw, M. A., Smith, P. J., & Reeve, A. E. (1993) · Nature · doi:10.1038/362749a0 · Cited by 706 · see citing works
Genomic Imprinting Disrupted by a Maternal Effect Mutation in the Dnmt1 Gene
Howell, C. Y., Bestor, T. H., Ding, F., Latham, K. E., Mertineit, C., Trasler, J. M., & Chaillet, J. R. (2001) · Cell · doi:10.1016/s0092-8674(01)00280-x · Cited by 688 · see citing works
Nephrogenic Rests, Nephroblastomatosis, and the Pathogenesis of Wilms' Tumor
Beckwith, J. B., Kiviat, N. B., & Bonadio, J. F. (1990) · Pediatric Pathology · doi:10.3109/15513819009067094 · Cited by 666 · see citing works
Haploinsufficiency of NSD1 causes Sotos syndrome
Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., et al. (2002) · Nature Genetics · doi:10.1038/ng863 · Cited by 647 · see citing works
Tumour-suppressor activity of H19 RNA
Hao, Y., Crenshaw, T., Moulton, T. A., Newcomb, E. W., & Tycko, B. (1993) · Nature · doi:10.1038/365764a0 · Cited by 629 · see citing works
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART): Table 1
Maher, E. R., Brueton, L. A., Bowdin, S. C., Luharia, A., Cooper, W., Cole, T. R., Macdonald, F., Sampson, J. R., Barratt, C. L. R., Reik, W., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.1.62 · Cited by 574 · see citing works
In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene
Gicquel, C., Gaston, V., Mandelbaum, J., Siffroi, J., Flahault, A., & Bouc, Y. L. (2003) · The American Journal of Human Genetics · doi:10.1086/374824 · Cited by 521 · see citing works
Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1
Fitzpatrick, G. V., Soloway, P. D., & Higgins, M. J. (2002) · Nature Genetics · doi:10.1038/ng988 · Cited by 467 · see citing works
Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome
Weksberg, R., Shen, D. R., Fei, Y. L., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-143 · Cited by 426 · see citing works
Self-citation
Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases
Elliott, M. M., Bayly, R. J., Cole, T., Temple, I. K., & Maher, E. R. (1994) · Clinical Genetics · doi:10.1111/j.1399-0004.1994.tb04219.x · Cited by 423 · see citing works
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
Henry, I., Bonaïti‐Pellié, C., Chéhensse, V., et al. (1991) · Nature · doi:10.1038/351665a0 · Cited by 421 · see citing works
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome
Smilinich, N. J., Day, C. D., Fitzpatrick, G. V., Caldwell, G. M., Lossie, A. C., Cooper, P. R., Smallwood, A. C., Joyce, J. A., Schofield, P. N., Reik, W., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.14.8064 · Cited by 408 · see citing works
Self-citation
An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome
Hatada, I., Ohashi, H., Fukushima, Y., Kaneko, Y., Inoue, M., Komoto, Y., Okada, A., Oh‐ishi, S., Nabetani, A., Morisaki, H., et al. (1996) · Nature Genetics · doi:10.1038/ng1096-171 · Cited by 382 · see citing works
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
Sparago, A., Cerrato, F., Vernucci, M., Ferrero, G. B., Silengo, M., & Riccio, A. (2004) · Nature Genetics · doi:10.1038/ng1410 · Cited by 366 · see citing works
Loss of imprinting of a paternally expressed transcript, with antisense orientation to K V LQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
Lee, M. P., DeBaun, M. R., Mitsuya, K., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.9.5203 · Cited by 359 · see citing works
Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
Lee, M. P., Hu, R.-J., Johnson, L. A., & Feinberg, A. P. (1997) · Nature Genetics · doi:10.1038/ng0297-181 · Cited by 356 · see citing works
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
Weksberg, R. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.11.1317 · Cited by 328 · see citing works
Self-citation
Sotos syndrome: a study of the diagnostic criteria and natural history.
Cole, T. R. P., & Hughes, H. E. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.1.20 · Cited by 314 · see citing works
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
de Lonlay, P., Fournet, J., Rahier, J., Gross, M., Poggi-Travert, F., Foussier, V., Bonnefont, J., Brusset, M. C., Brunelle, F., Robert, J., et al. (1997) · Journal of Clinical Investigation · doi:10.1172/jci119594 · Cited by 305 · see citing works
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature
Pettenati, M. J., Haines, J. L., Higgins, R. R., Wappner, R. S., Palmer, C. G., & Weaver, D. D. (1986) · Human Genetics · doi:10.1007/bf00282078 · Cited by 300 · see citing works
Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential
Sotelo‐Avila, C., Gonzalez‐Crussi, F., & Fowler, J. W. (1980) · The Journal of Pediatrics · doi:10.1016/s0022-3476(80)80322-2 · Cited by 290 · see citing works
Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome
Wiedemann, H. R. (1983) · European Journal of Pediatrics · doi:10.1007/bf00496807 · Cited by 281 · see citing works
The imprinted gene and parent-of-origin effect database
Morison, I. M. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.275 · Cited by 260 · see citing works
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
Weksberg, R. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.26.2989 · Cited by 247 · see citing works
Self-citation
Abnormality of chromosome 11 in patients withfeatures of Beckwith-Wiedemann syndrome
Waziri, M. H., Patil, S. R., Hanson, J. W., et al. (1983) · The Journal of Pediatrics · doi:10.1016/s0022-3476(83)80014-6 · Cited by 234 · see citing works
Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients
Chang, A. S., Moley, K. H., Wangler, M. F., Feinberg, A. P., & DeBaun, M. R. (2005) · Fertility and Sterility · doi:10.1016/j.fertnstert.2004.07.964 · Cited by 219 · see citing works
Beckwith-Wiedemann syndrome.
Elliott, M., & Maher, E. R. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.7.560 · Cited by 187 · see citing works
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
Lam, W. W. K., Hatada, I., Oh‐ishi, S., Mukai, T., Joyce, J. A., Cole, T. R. P., Donnai, D., Reik, W., Schofield, P. N., & Maher, E. R. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.7.518 · Cited by 179 · see citing works
Wiedemann-beckwith syndrome
Engstr�m, W., Lindham, S., & Schofield, P. N. (1988) · European Journal of Pediatrics · doi:10.1007/bf00441965 · Cited by 178 · see citing works
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
Bliek, J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.5.467 · Cited by 177 · see citing works
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome
Gaston, V., Bouc, Y. L., Soupre, V., Bürglen, L., Donadieu, J., Oro, H., Audry, G., Vazquez, M., & Gicquel, C. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200649 · Cited by 173 · see citing works
The IPL Gene on Chromosome 11p15.5 is Imprinted in Humans and Mice and is Similar to TDAG51, Implicated in Fas Expression and Apoptosis
Qian, N., Frank, D., O’Keefe, D., Dao, D. N., Zhao, L., Yuan, L., Wang, Q., Keating, M. T., Walsh, C. P., & Tycko, B. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.12.2021 · Cited by 165 · see citing works
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
Slavotinek, A. M., Gaunt, L., & Donnai, D. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.10.819 · Cited by 161 · see citing works
Isolated hemihyperplasia (hemihypertrophy): Report of a prospective multicenter study of the incidence of neoplasia and review
Hoyme, H. E., Seaver, L. H., Jones, K. L., Procopio, F., Crooks, W., & Feingold, M. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19981002)79:4 · Cited by 149 · see citing works
Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy
Choyke, P. L., Siegel, M. J., Craft, A. W., Green, D. M., & DeBaun, M. R. (1999) · Medical and Pediatric Oncology · doi:10.1002/(sici)1096-911x(199903)32:3 · Cited by 148 · see citing works
New insights reveal complex mechanisms involved in genomic imprinting.
Nicholls, R. D. (1994) · PubMed Central · Cited by 143 · see citing works
Low Frequency of p57KIP2 Mutation in Beckwith-Wiedemann Syndrome
Lee, M. P., DeBaun, M. R., Randhawa, G. S., Reichard, B. A., Elledge, S. J., & Feinberg, A. P. (1997) · The American Journal of Human Genetics · doi:10.1086/514858 · Cited by 137 · see citing works
Coding Mutations in p57 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors
O’Keefe, D., Dao, D., Zhao, L., Sanderson, R., Warburton, D., Weiss, L. M., Anyane‐Yeboa, K., & Tycko, B. (1997) · The American Journal of Human Genetics · doi:10.1086/514854 · Cited by 135 · see citing works
Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome
Niemitz, E. L., DeBaun, M. R., Fallon, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425343 · Cited by 133 · see citing works
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms' tumor
Prawitt, D., Enklaar, T., Gärtner-Rupprecht, B., Spangenberg, C., Oswald, M., Lausch, E. U., Schmidtke, P., Reutzel, D., Fees, S. A., Lucito, R., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500037102 · Cited by 130 · see citing works
Wilms tumor and nephroblastomatosis: imaging characteristics at gadolinium-enhanced MR imaging.
Gylys-Morin, V. M., Hoffer, F. A., Kozakewich, H. P., et al. (1993) · Radiology · doi:10.1148/radiology.188.2.8392214 · Cited by 125 · see citing works
Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith- Wiedemann syndrome
Joyce, J. A. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.9.1543 · Cited by 124 · see citing works
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
Baujat, G., Rio, M., Rossignol, S., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/383093 · Cited by 120 · see citing works
Exomphalos-Macroglossia-Gigantism Syndrome in Jamaican Infants
Thorburn, M. J. (1970) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1970.02100050318006 · Cited by 119 · see citing works
The impact of genomic imprinting for neurobehavioral and developmental disorders
Nicholls, R. D. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9460 · Cited by 118 · see citing works
Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause
Johnson, J. P., Golabi, M., Norton, M. E., et al. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70284-7 · Cited by 105 · see citing works
Behavior and emotional disturbance in Prader-Willi syndrome
Einfeld, S., Smith, A., Durvasula, S., Florio, T., & Tonge, B. J. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990115)82:2 · Cited by 100 · see citing works
Self-citation
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients
Brown, M. D., Shoffner, J. M., Kim, Y. L., Jun, A. S., Graham, B. H., Cabell, M. F., Gurley, D. S., & Wallace, D. C. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960122)61:3 · Cited by 99 · see citing works
IMPT1, an imprinted gene similar to polyspecific transporter and multi- drug resistance genes
Dao, D. N. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.4.597 · Cited by 98 · see citing works
Imprinting: a gamete's point of view
Barlow, D. P. (1994) · Trends in Genetics · doi:10.1016/0168-9525(94)90255-0 · Cited by 96 · see citing works
Longitudinal observations on 15 children with Wiedemann‐Beckwith syndrome
Weng, E. Y., Moeschler, J. B., & Graham, J. M. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560405 · Cited by 96 · see citing works
Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms
Grundy, P. E., Telzerow, P., Paterson, M. C., et al. (1991) · The Lancet · doi:10.1016/0140-6736(91)91937-p · Cited by 95 · see citing works
New p57 KIP2 mutations in Beckwith-Wiedemann syndrome
Hatada, I., Nabetani, A., Morisaki, H., Xin, Z., Ohishi, S., Tonoki, H., Niikawa, N., Inoue, M., Komoto, Y., Okada, A., et al. (1997) · Human Genetics · doi:10.1007/s004390050573 · Cited by 94 · see citing works
Nephromegaly in infancy and early childhood: A risk factor for Wilms tumor in Beckwith-Wiedemann syndrome
DeBaun, M. R., Siegel, M. J., & Choyke, P. L. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70009-5 · Cited by 84 · see citing works
Chromatin conformation of the H19 epigenetic mark
Hark, A. T., & Tilghman, S. M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.12.1979 · Cited by 77 · see citing works
Glypicans: a growing trend
Weksberg, R., Squire, J. A., & Templeton, D. M. (1996) · Nature Genetics · doi:10.1038/ng0396-225 · Cited by 76 · see citing works
Self-citation
Serum α-fetoprotein levels in Beckwith-Wiedemann syndrome
Everman, D. B., Shuman, C. T., Dzolganovski, B., O’Riordan, M. A., Weksberg, R., & Robin, N. H. (2000) · The Journal of Pediatrics · doi:10.1067/mpd.2000.106217 · Cited by 76 · see citing works
Self-citation
Thyroid dysfunction associated with immunotherapy for patients with cancer
Schwartzentruber, D. J., White, D. E., ZWEIG, M. H., Weintraub, B. D., & Rosenberg, S. A. (1991) · Cancer · doi:10.1002/1097-0142(19911201)68:11 · Cited by 73 · see citing works
Molecular genetics of Beckwith-Wiedemann syndrome
Li, M., Squire, J. A., & Weksberg, R. (1997) · Current Opinion in Pediatrics · doi:10.1097/00008480-199712000-00012 · Cited by 67 · see citing works
Self-citation
Favorable outcome in children with Beckwith-Wiedeman syndrome and intraabdominal malignant tumors
Vaughan, W. G., Sanders, D., Grosfeld, J. L., Plumley, D. A., Rescorla, F. J., Scherer, L. R., West, K. W., & Breitfeld, P. P. (1995) · Journal of Pediatric Surgery · doi:10.1016/0022-3468(95)90338-0 · Cited by 64 · see citing works
The Perlman familial nephroblastomatosis syndrome
Greenberg, F., Stein, F., Gresik, M. V., Finegold, M. J., Carpenter, R. J., Riccardi, V. M., Beaudet, A. L., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320240112 · Cited by 64 · see citing works
Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations
Li, M., Squire, J. A., Shuman, C., et al. (2001) · Genomics · doi:10.1006/geno.2001.6549 · Cited by 61 · see citing works
Self-citation
Association of Alveolar Rhabdomyosarcoma with the Beckwith-Wiedemann Syndrome
Smith, A. C., Squire, J. A., Thorner, P. S., Zieleńska, M., Shuman, C. T., Grant, R. M., Chitayat, D. A., Nishikawa, J. L., & Weksberg, R. (2001) · Pediatric and Developmental Pathology · doi:10.1007/s10024001-0110-6 · Cited by 60 · see citing works
Self-citation
Effects of tamoxifen on telomerase activity in breast carcinoma cell lines
Aldous, W. K., Marean, A. J., Dehart, M. J., Matej, L. A., & Moore, K. H. (1999) · Cancer · doi:10.1002/(sici)1097-0142(19990401)85:7 · Cited by 56 · see citing works
Screening for wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy
Craft, A. W., Parker, L., Stiller, C. A., & Cole, M. F. (1995) · Medical and Pediatric Oncology · doi:10.1002/mpo.2950240404 · Cited by 56 · see citing works
Genomic imprinting, monozygous twinning, and X inactivation
Lubinsky, M., & Hall, J. G. (1991) · The Lancet · doi:10.1016/0140-6736(91)92956-3 · Cited by 55 · see citing works
Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour
Grundy, R. G., Pritchard, J., Baraitser, M., Risdon, A., & Robards, M. (1992) · European Journal of Pediatrics · doi:10.1007/bf01954125 · Cited by 53 · see citing works
Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome
Brown, K. W., Gardner, A., Williams, J. C., et al. (1992) · Cancer Genetics and Cytogenetics · doi:10.1016/0165-4608(92)90136-v · Cited by 51 · see citing works
Monozygotic twinning and Wiedemann‐Beckwith syndrome
Franceschini, P., Guala, A., Vardeu, M. P., et al. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320460327 · Cited by 51 · see citing works
Non‐random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann‐Beckwith syndrome
Eliseörstavik, R., Tommerup, N., Eiklid, K. L., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560219 · Cited by 49 · see citing works
Localization of beckwith‐wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5
Salt, S. N. J., Nowak, N. J., Singh-Kahlon, P., et al. (1994) · Genes Chromosomes and Cancer · doi:10.1002/gcc.2870110206 · Cited by 48 · see citing works
Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.
Berry, A. C., Belton, E. M., & CHANTLER, C. (1980) · Journal of Medical Genetics · doi:10.1136/jmg.17.2.136 · Cited by 48 · see citing works
Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann‐Beckwith syndrome
Litz, C. E., Taylor, K. A., Qiu, J., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320300316 · Cited by 44 · see citing works
Wiedemann‐Beckwith syndrome in apparently discordant monozygotic twins
Olney, A. H., Buehler, B. A., Waziri, M. H., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290304 · Cited by 43 · see citing works
RENAL FINDINGS ON RADIOLOGICAL FOLLOWUP OF PATIENTS WITH BECKWITH-WIEDEMANN SYNDROME
Borer, J. G., Kaefer, M. A., Barnewolt, C. E., Elias, E. R., Hobbs, N., RETIC, A. B., & Peters, C. A. (1999) · The Journal of Urology · doi:10.1016/s0022-5347(01)62118-9 · Cited by 42 · see citing works
Monozygotic twinning and Wiedemann‐Beckwith syndrome
Clayton‐Smith, J., Read, A., & Donnai, D. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420440 · Cited by 42 · see citing works
Wiedemann-Beckwith syndrome in one of monozygotic twins.
Bose, B., Wilkie, R., Madlom, M. M., et al. (1985) · Archives of Disease in Childhood · doi:10.1136/adc.60.12.1191 · Cited by 39 · see citing works
Apparent postnatal onset of some manifestations of the Wiedemann‐Beckwith syndrome
Chitayat, D. A., Rothchild, A., Ling, E. W. Y., et al. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320360412 · Cited by 38 · see citing works
Hypercalciuria in Beckwith-Wiedemann syndrome
Goldman, M., Shuman, C., Weksberg, R., et al. (2003) · The Journal of Pediatrics · doi:10.1067/mpd.2003.82 · Cited by 27 · see citing works
Self-citation
Neuroblastoma in a child with Wiedemann–Beckwith syndrome
Chitayat, D. A., Friedman, J. M., & Dimmick, J. E. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350322 · Cited by 23 · see citing works
CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance
Algar, E. M., Deeble, G. J., & Smith, P. J. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.7.524 · Cited by 19 · see citing works
Wiedemann-Beckwith syndrome with congenital central hypothyroidism in one of monozygotic twins.
Ch, C., Js, L., Tsai, W., et al. (1990) · PubMed · Cited by 16 · see citing works
Summary and recommendations of the workshop held at the first international conference on molecular and clinical genetics of childhood renal tumors, Albuquerque, New Mexico, May 14–16, 1992
Clericuzio, C. L., D’Angio, G. J., Duncan, M. H., et al. (1993) · Medical and Pediatric Oncology · doi:10.1002/mpo.2950210314 · Cited by 15 · see citing works
Bilaterally multicentric synchronous Wilms' tumor: Successful conservative treatment despite persistence of nephrogenic rests
Regalado, J. J., Rodriguez, M. M., & Toledano, S. (1997) · Medical and Pediatric Oncology · doi:10.1002/(sici)1096-911x(199706)28:6 · Cited by 12 · see citing works
Untitled work
(1999) · doi:10.1002/(sici)1096-8628(19990423)83:5

Flagged first, then by citations

Sorted by citations

Environmental epigenomics and disease susceptibility
Jirtle, R. L., & Skinner, M. K. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2045 · Cited by 2,492 · see citing works
CDK inhibitors: Cell cycle regulators and beyond
Besson, A., Dowdy, S. F., & Roberts, J. M. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.01.013 · Cited by 1,152 · see citing works
Adrenocortical carcinoma
Else, T., Kim, A. C., Sabolch, A., Raymond, V. M., Kandathil, A., Caoili, E. M., Jolly, S., Miller, B. S., Giordano, T. J., & Hammer, G. D. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1029 · Cited by 892 · see citing works
Mammalian genomic imprinting
Bartolomei, M. S., & Ferguson-Smith, A. C. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a002592 · Cited by 518 · see citing works
Pathology of the adrenal cortex: a reappraisal of the past 25 years focusing on adrenal cortical tumors
Papotti, M., Duregon, E., Volante, M., & McNicol, A. M. (2014) · Endocrine Pathology · doi:10.1007/s12022-013-9291-6 · Cited by 33 · see citing works

Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2Preprint
Duffy, K. A., Hathaway, E. R., Klein, S. D., et al. (2021) · Molecular Case Studies · doi:10.1101/mcs.a006115 · Cited by 16 · see citing works
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M., Alders, M. M., Maas, S. M., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0649-6 · Cited by 28 · see citing works
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.5
Eggermann, T., Kraft, F., Kloth, K., et al. (2020) · Clinical Genetics · doi:10.1111/cge.13820 · Cited by 7 · see citing works
Aberrant methylation of H19‐DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome
Higashimoto, K., Nakabayashi, K., Yatsuki, H., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35335 · Cited by 8 · see citing works
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth
Delaval, K., Wagschal, A., & Feil, R. (2006) · BioEssays · doi:10.1002/bies.20407 · Cited by 119 · see citing works

Authors: Weksberg, R., Shuman, C., & Smith, A. C.
Affiliations: University of Toronto (CA)
Corresponding author: Weksberg, Rosanna
ORCID: Weksberg, Rosanna
Smith, Adam C.
Venue: American Journal of Medical Genetics Part C Seminars in Medical Genetics
Publisher: Wiley
Published: 2005-07-11
Volume: 137C
Issue: 1
Pages: 12-23
ISSN: 1552-4868 (ISSN-L)
1552-4876
DOI: 10.1002/ajmg.c.30058
OpenAlex: W4245280555
Cited by: 307
References: 89
Citations by year: 2026: 1 · 2025: 1 · 2024: 5 · 2023: 4 · 2022: 5 · 2021: 11 · 2020: 13 · 2019: 8 · 2018: 10 · 2017: 8 · 2016: 16 · 2015: 20 · 2014: 22 · 2013: 21 · 2012: 16
FWCI: 2.49
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Birth, Development, and Health
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords: Beckwith-Wiedemann syndrome, overgrowth syndromes, embryonal tumors, Wilms tumor, genomic imprinting, chromosome 11p15, epigenetic mechanisms, monozygotic twinning, genetic counseling
MeSH terms: Beckwith-Wiedemann Syndrome, Chromosome Aberrations, Chromosomes, Human, Pair 11, Humans, Twins, Monozygotic, Genomic Imprinting

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Beckwith-Wiedemann syndrome

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks