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Eamonn R. Maher, Wolf Reik
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2008 | |
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American Journal of Medical Genetics Part A | 2007 |
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Features and Trend of Loss of Promoter-Associated CpG Islands in the Human and Mouse Genomes
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Molecular Biology and Evolution | 2007 |
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A survey of assisted reproductive technology births and imprinting disorders
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Human Reproduction | 2007 |
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Uroonkologie
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Placental Mesenchymal Dysplasia
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2005 |
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Journal of medical genetics | 2005 |
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Biochemistry (Moscow) | 2005 |
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GNAS Locus and Pseudohypoparathyroidism
M Bastepe, H Jüppner |
Hormone Research | 2005 |
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Intraneural perineurioma in a child with Beckwith-Wiedemann syndrome
L Chen, Y Li, JH Lin |
Journal of Pediatric Surgery | 2005 |
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H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia
MV de Gomes, SA Santos, ES Ramos |
Genetics and molecular biology | 2005 |
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The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster
F Cerrato, A Sparago, ID Matteo, X Zou, W Dean, H Sasaki, P Smith, R Genesio, M Bruggemann, W Reik, A Riccio |
Human Molecular Genetics | 2005 |
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Temporal and parental-specific expression of imprinted genes in a newly derived Chinese human embryonic stem cell line and embryoid bodies
BW Sun, AC Yang, Y Feng, YJ Sun, Y fei Zhu, Y Zhang, H Jiang, CL Li, FR Gao, ZH Zhang, WC Wang, XY Kong, G Jin, SJ Fu, Y Jin |
Human Molecular Genetics | 2005 |
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Transforming growth factor beta-induced cell cycle arrest of human hematopoietic cells requires p57KIP2 up-regulation
JM Scandura, P Boccuni, J Massagué, SD Nimer |
Proceedings of the National Academy of Sciences | 2004 |
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Long-term effect of in vitro culture of mouse embryos with serum on mRNA expression of imprinting genes, development, and behavior
R Fernández-Gonzalez, P Moreira, A Bilbao, A Jiménez, M Pérez-Crespo, MA Ramírez, FR de Fonseca, B Pintado, A Gutiérrez-Adán |
Proceedings of the National Academy of Sciences | 2004 |
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Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells
A Schumacher, W Doerfler |
Nucleic Acids Research | 2004 |
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Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
G Baujat, M Rio, S Rossignol, D Sanlaville, S Lyonnet, ML Merrer, A Munnich, C Gicquel, V Cormier-Daire, L Colleaux |
The American Journal of Human Genetics | 2004 |
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Loss of AP-2α impacts multiple aspects of ventral body wall development and closure
S Brewer, T Williams |
Developmental Biology | 2004 |
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Intrauterine growth restriction—genetic causes and consequences
D Monk, GE Moore |
Seminars in Fetal and Neonatal Medicine | 2004 |
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Finally, a sense of closure? Animal models of human ventral body wall defects
S Brewer, T Williams |
BioEssays | 2004 |
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Epigenetics in human disease and prospects for epigenetic therapy
G Egger, G Liang, A Aparicio, PA Jones |
Nature | 2004 |
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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
A Sparago, F Cerrato, M Vernucci, GB Ferrero, MC Silengo, A Riccio |
Nature Genetics | 2004 |
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Diagnosis, Treatment and Outcome of Pancreatoblastoma
AR Dhebri, S Connor, F Campbell, P Ghaneh, R Sutton, JP Neoptolemos |
Pancreatology | 2004 |
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Adrenocortical cancer: recent clinical and molecular advances
S Sidhu, M Sywak, B Robinson, L Delbridge |
Current Opinion in Oncology | 2004 |
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De novo quantitative bisulfite sequencing using the pyrosequencing technology
JM Dupont, J Tost, H Jammes, IG Gut |
Analytical Biochemistry | 2004 |
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CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer
JM Lew, YL Fei, K Aleck, BJ Blencowe, R Weksberg, PD Sadowski |
American journal of medical genetics. Part A | 2004 |
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Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)
J Bliek, C Gicquel, S Maas, V Gaston, Y Bouc, M Mannens |
The Journal of Pediatrics | 2004 |
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DNA Methylation: Approaches, Methods, and Applications
J Hasskarl, R Claus, M Lubbert |
DNA Methylation: Approaches, Methods, and Applications | 2004 |
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Die Onkologie
W Hiddemann, H Huber, CR Bartram |
2004 | |
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Selective loss of imprinting in the placenta following preimplantation development in culture
MR Mann, SS Lee, AS Doherty, RI Verona, LD Nolen, RM Schultz, MS Bartolomei |
Development (Cambridge, England) | 2004 |
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The H19 Differentially Methylated Region Marks the Parental Origin of a Heterologous Locus without Gametic DNA Methylation
KY Park, EA Sellars, A Grinberg, SP Huang, K Pfeifer |
Molecular and cellular biology | 2004 |
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Biallelic expression of HRAS and MUCDHL in human and mouse
M Goldberg, M Wei, L Yuan, VV Murty, B Tycko |
Human Genetics | 2003 |
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Impact of aging on DNA methylation
B Richardson |
Ageing Research Reviews | 2003 |
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Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
N Diaz-Meyer, CD Day, K Khatod, ER Maher, W Cooper, W Reik, C Junien, G Graham, E Algar, VM der Kaloustian, MJ Higgins |
Journal of medical genetics | 2003 |
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Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome
K Higashimoto, T Urano, K Sugiura, H Yatsuki, K Joh, W Zhao, M Iwakawa, H Ohashi, M Oshimura, N Niikawa, T Mukai, H Soejima |
The American Journal of Human Genetics | 2003 |
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In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene
C Gicquel, V Gaston, J Mandelbaum, JP Siffroi, A Flahault, YL Bouc |
The American Journal of Human Genetics | 2003 |
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Genome-Wide Analysis of Epigenetics in Cancer
MP Lee |
Annals of the New York Academy of Sciences | 2003 |
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Clinical and molecular aspects of adrenocortical tumourigenesis
S Sidhu, C Gicquel, CP Bambach, P Campbell, C Magarey, BG Robinson, LW Delbridge |
ANZ Journal of Surgery | 2003 |
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Imprinting and disease
J Walter, M Paulsen |
Seminars in Cell & Developmental Biology | 2003 |
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In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene
C Gicquel, V Gaston, J Mandelbaum, JP Siffroi, A Flahault, YL Bouc |
The American Journal of Human Genetics | 2003 |
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GENOMICIMPRINTING: Intricacies of Epigenetic Regulation in Clusters
RI Verona, MR Mann, MS Bartolomei |
Annual Review of Cell and Developmental Biology | 2003 |
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NATURALSELECTION AND THEEVOLUTION OFGENOMEIMPRINTING
E la Casa-Esperón, C Sapienza |
Annual Review of Genetics | 2003 |
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Transcriptional derepression as a cause of genetic diseases
D Gabellini, R Tupler, MR Green |
Current Opinion in Genetics & Development | 2003 |
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Beckwith-Wiedemann syndrome and isolated hemihyperplasia
MV de Gomes, ES Ramos |
Sao Paulo Medical Journal | 2003 |
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Bidirectional Silencing and DNA Methylation-sensitive Methylation-spreading Properties of the Kcnq1 Imprinting Control Region Map to the Same Regions
N Thakur, M Kanduri, C Holmgren, R Mukhopadhyay, C Kanduri |
The Journal of biological chemistry | 2003 |
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Epigenetics and bipolar disorder: New opportunities and challenges
A Petronis |
American Journal of Medical Genetics | 2003 |
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Épidémiologie des cancers de l’enfant
D Sommelet, B Lacour, J Clavel |
Bulletin de l'Académie nationale de médecine | 2003 |
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Induction of p57(KIP2) expression by p73beta
E Blint, AC Phillips, S Kozlov, CL Stewart, KH Vousden |
Proceedings of the National Academy of Sciences | 2002 |
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Physiological functions of imprinted genes
B Tycko, IM Morison |
Journal of Cellular Physiology | 2002 |
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Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region
H Yatsuki, K Joh, K Higashimoto, H Soejima, Y Arai, Y Wang, I Hatada, Y Obata, H Morisaki, Z Zhang, T Nakagawachi, Y Satoh, T Mukai |
Genome research | 2002 |
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The Tnfrh1 (Tnfrsf23) gene is weakly imprinted in several organs and expressed at the trophoblast-decidua interface
L Clark, M Wei, G Cattoretti, C Mendelsohn, B Tycko |
BMC genetics | 2002 |
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Placental overgrowth in mice lacking the imprinted gene Ipl
D Frank, W Fortino, L Clark, R Musalo, W Wang, A Saxena, CM Li, W Reik, T Ludwig, B Tycko |
Proceedings of the National Academy of Sciences | 2002 |
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Overgrowth
G Ambler |
Best Practice & Research Clinical Endocrinology & Metabolism | 2002 |
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Recent advances in Wilms tumor genetics
JS Dome, MJ Coppes |
Current Opinion in Pediatrics | 2002 |
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Characterization and Imprinting Status of OBPH1/Obph1 Gene: Implications for an Extended Imprinting Domain in Human and Mouse
K Higashimoto, H Soejima, H Yatsuki, K Joh, M Uchiyama, Y Obata, R Ono, Y Wang, Z Xin, X Zhu, S Masuko, F Ishino, I Hatada, Y Jinno, T Iwasaka, T Katsuki, T Mukai |
Genomics | 2002 |
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Structural characterization of Rasgrf1 and a novel linked imprinted locus
A la Puente, J Hall, YZ Wu, G Leone, J Peters, BJ Yoon, P Soloway, C Plass |
Gene | 2002 |
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Epigenetics and DNA Methylation Come of Age in Toxicology
RE Watson, JI Goodman |
Toxicological Sciences | 2002 |
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Overgrowth of a Mouse Model of the Simpson–Golabi–Behmel Syndrome Is Independent of IGF Signaling
E Chiao, P Fisher, L Crisponi, M Deiana, I Dragatsis, D Schlessinger, G Pilia, A Efstratiadis |
Developmental Biology | 2002 |
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Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1
GV Fitzpatrick, PD Soloway, MJ Higgins |
Nature Genetics | 2002 |
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Acute myeloid leukemia in a 23-year-old patient with Beckwith-Wiedemann syndrome
I Houtenbos, GJ Ossenkoppele |
Cancer Genetics and Cytogenetics | 2002 |
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Identification of a New Murine Tumor Necrosis Factor Receptor Locus That Contains Two Novel Murine Receptors for Tumor Necrosis Factor-related Apoptosis-inducing Ligand (TRAIL)
P Schneider, D Olson, A Tardivel, B Browning, A Lugovskoy, DH Gong, M Dobles, S Hertig, K Hofmann, HV Vlijmen, YM Hsu, LC Burkly, J Tschopp, TS Zheng |
The Journal of biological chemistry | 2002 |
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A Differentially Methylated Imprinting Control Region within the Kcnq1 Locus Harbors a Methylation-sensitive Chromatin Insulator
C Kanduri, G Fitzpatrick, R Mukhopadhyay, M Kanduri, V Lobanenkov, M Higgins, R Ohlsson |
The Journal of biological chemistry | 2002 |
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Loss of Igf2 Imprinting in Monoclonal Mouse Hepatic Tumor Cells Is Not Associated with Abnormal Methylation Patterns for the H19 , Igf2 , and Kvlqt1 Differentially Methylated Regions
T Ishizaki, M Yoshie, Y Yaginuma, T Tanaka, K Ogawa |
The Journal of biological chemistry | 2002 |
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Imprint Control Element-mediated Secondary Methylation Imprints at the Igf2/H19 Locus
M Srivastava, E Frolova, B Rottinghaus, SP Boe, A Grinberg, E Lee, PE Love, K Pfeifer |
The Journal of biological chemistry | 2002 |
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Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS)
G Yoon, G Graham, R Weksberg, HP Gaul, MR DeBaun, MJ Coppes |
Medical and Pediatric Oncology | 2002 |
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Loss of methylation at chromosome 11p15.5 is common in human adult tumors
RA Scelfo, C Schwienbacher, A Veronese, L Gramantieri, L Bolondi, P Querzoli, I Nenci, GA Calin, A Angioni, G Barbanti-Brodano, M Negrini |
Oncogene | 2002 |
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Comparative Genomic Hybridization Analysis of Adrenocortical Tumors
S Sidhu, DJ Marsh, G Theodosopoulos, J Philips, CP Bambach, P Campbell, CJ Magarey, CF Russell, KM Schulte, HD Röher, L Delbridge, BG Robinson |
The Journal of clinical endocrinology and metabolism | 2002 |
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Germ Cell Tumours V
P Harnden, JK Joffe, WG Jones |
2002 | |
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Disruption of mesodermal enhancers for Igf2 in the minute mutant
K Davies, L Bowden, P Smith, W Dean, D Hill, H Furuumi, H Sasaki, B Cattanach, W Reik |
Development (Cambridge, England) | 2002 |
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Renal Abnormalities in Beckwith-Wiedemann Syndrome Are Associated with 11p15.5 Uniparental Disomy
M Goldman, A Smith, C Shuman, O Caluseriu, C Wei, L Steele, P Ray, P Sadowski, J Squire, R Weksberg, ND Rosenblum |
Journal of the American Society of Nephrology : JASN | 2002 |
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Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice
MA Cleary, CD van Raamsdonk, J Levorse, B Zheng, A Bradley, SM Tilghman |
Nature Genetics | 2001 |
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Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
D Kotzot |
Journal of medical genetics | 2001 |
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Methylation matters
JF Costello, C Plass |
Journal of medical genetics | 2001 |
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The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome
M Hanel, R Wevrick |
Clinical Genetics | 2001 |
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Environmental effects on genomic imprinting in mammals
SL Thompson, G Konfortova, RI Gregory, W Reik, W Dean, R Feil |
Toxicology Letters | 2001 |
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Hyperinsulinism in syndromal disorders
T Meissner, W Rabl, K Mohnike, S Scholl, R Santer, E Mayatepek |
Acta Paediatrica | 2001 |
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Genomic imprinting: parental influence on the genome
W Reik, J Walter |
Nature Reviews Genetics | 2001 |
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Genética no mendeliana y crecimiento. El síndrome de Russel-Silver
MC Casanelles, LA Jurado |
Anales de Pediatría | 2001 |
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Genomic imprinting and cancer; new paradigms in the genetics of neoplasia
P N Schofield, J A Joyce, W K Lam, V Grandjean, A Ferguson-Smith, W Reik, E R Maher |
Toxicology Letters | 2001 |
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Culture of Preimplantation Mouse Embryos Affects Fetal Development and the Expression of Imprinted Genes1
S Khosla, W Dean, D Brown, W Reik, R Feil |
Biology of reproduction | 2001 |
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Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome
V Gaston, YL Bouc, V Soupre, L Burglen, J Donadieu, H Oro, G Audry, MP Vazquez, C Gicquel |
European Journal of Human Genetics | 2001 |
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Medullary sponge kidney—part of a congenital syndrome
D Rommel, Y Pirson |
Nephrology Dialysis Transplantation | 2001 |
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The two-domain hypothesis in Beckwith-Wiedemann Syndrome
Andrew P. Feinberg |
Journal of Clinical Investigation | 2000 |
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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
JR Engel, A Smallwood, A Harper, MJ Higgins, M Oshimura, W Reik, PN Schofield, ER Maher |
Journal of medical genetics | 2000 |
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