Works matching DE "BECKWITH-Wiedemann syndrome"

Results: 187

Accuracy and impact of prenatal diagnosis in infants with omphalocele.

Published in:

2018

By:

Conner, Peter;
Vejde, Jenny Hammarqvist;
Burgos, Carmen Mesas

Publication type:

journal article

Fatty degeneration in a Wilms' tumour after chemotherapy.

Published in:

2002

By:

Jeanes, A. C.;
Beese, R. C.;
McHugh, K.;
Ramsay, A. D.

Publication type:

journal article

Beckwith-Wiedemann syndrome and Chiari I malformation-a case-based review of central nervous system involvement in hemihypertrophy syndromes.

Published in:

Child's Nervous System, 2015, v. 31, n. 5, p. 637, doi. 10.1007/s00381-015-2642-5

By:

Udayakumaran, Suhas;
Onyia, Chiazor

Publication type:

Article

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 530, doi. 10.1002/mgg3.107

By:

Bodian, Dale L.;
Solomon, Benjamin D.;
Khromykh, Alina;
Thach, Dzung C.;
Iyer, Ramaswamy K.;
Link, Kathleen;
Baker, Robin L.;
Baveja, Rajiv;
Vockley, Joseph G.;
Niederhuber, John E.

Publication type:

Article

P09.23: Beckwith-Wiedemann syndrome: a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 205, doi. 10.1002/uog.9747

By:

Lee, M.;
Rhee, Y.

Publication type:

Article

P15.03: Beckwith-Wiedemann syndrome and raised human chorionic gonadotrophin levels: a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 220, doi. 10.1002/uog.9800

By:

Wu, P.;
Steel, S. A.

Publication type:

Article

11p15.4 Microdeletion Associates with Hemihypertrophy.

Published in:

2018

By:

Puvabanditsin, Surasak;
Sadiq, Mehrin;
Jacob, Marianne;
Jalil, Maaz;
Cabrera, Kenya;
Choudry, Omer;
Mehta, Rajeev

Publication type:

Case Study

p57Kip2 is an unrecognized DNA damage response effector molecule that functions in tumor suppression and chemoresistance.

Published in:

Oncogene, 2015, v. 34, n. 27, p. 3568, doi. 10.1038/onc.2014.287

By:

Jia, H;
Cong, Q;
Chua, J F L;
Liu, H;
Xia, X;
Zhang, X;
Lin, J;
Habib, S L;
Ao, J;
Zuo, Q;
Fu, C;
Li, B

Publication type:

Article

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.

Published in:

2011

By:

Mussa, Alessandro;
Ferrero, Giovanni;
Ceoloni, Barbara;
Basso, Eleonora;
Chiesa, Nicoletta;
Crescenzo, Agostina;
Pepe, Ernesto;
Silengo, Margherita;
Sanctis, Luisa;
Ferrero, Giovanni Battista;
De Crescenzo, Agostina;
de Sanctis, Luisa

Publication type:

journal article

Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.

Published in:

2011

By:

Teplick, Alexis;
Kowalski, Megan;
Biegel, Jaclyn A.;
Nichols, Kim E.

Publication type:

journal article

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith–Wiedemann Spectrum.

Published in:

Cancers, 2024, v. 16, n. 23, p. 3967, doi. 10.3390/cancers16233967

By:

Carli, Diana;
Rondot, Federico;
Luca, Maria;
Campello, Anna;
Vallero, Stefano Gabriele;
Tirtei, Elisa;
Gazzin, Andrea;
Cardaropoli, Simona;
Montanari, Francesca;
Graziano, Claudio;
Quarello, Paola;
Saadat, Abu;
Sparago, Angela;
Ferrero, Giovanni Battista;
Fagioli, Franca;
Mussa, Alessandro

Publication type:

Article

Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue.

Published in:

2023

By:

Mussa, Alessandro;
Kalish, Jennifer M.

Publication type:

Editorial

11p15 Epimutations in Pediatric Embryonic Tumors: Insights from a Methylome Analysis.

Published in:

Cancers, 2023, v. 15, n. 17, p. 4256, doi. 10.3390/cancers15174256

By:

Silva, Felipe Luz Torres;
Ruas, Juliana Silveira;
Euzébio, Mayara Ferreira;
Hoffmann, Iva Loureiro;
Junqueira, Thais;
Tedeschi, Helder;
Pereira, Luiz Henrique;
Cassone, Alejandro Enzo;
Cardinalli, Izilda Aparecida;
Seidinger, Ana Luiza;
Jotta, Patricia Yoshioka;
Maschietto, Mariana

Publication type:

Article

Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp).

Published in:

Cancers, 2023, v. 15, n. 9, p. 2548, doi. 10.3390/cancers15092548

By:

Klein, Steven D.;
DeMarchis, Madison;
Linn, Rebecca L.;
MacFarland, Suzanne P.;
Kalish, Jennifer M.

Publication type:

Article

Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer.

Published in:

Cancers, 2023, v. 15, n. 7, p. 1944, doi. 10.3390/cancers15071944

By:

Cecere, Francesco;
Pignata, Laura;
Hay Mele, Bruno;
Saadat, Abu;
D'Angelo, Emilia;
Palumbo, Orazio;
Palumbo, Pietro;
Carella, Massimo;
Scarano, Gioacchino;
Rossi, Giovanni Battista;
Angelini, Claudia;
Sparago, Angela;
Cerrato, Flavia;
Riccio, Andrea

Publication type:

Article

Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.

Published in:

Cancers, 2023, v. 15, n. 6, p. 1872, doi. 10.3390/cancers15061872

By:

Tüysüz, Beyhan;
Bozlak, Serdar;
Uludağ Alkaya, Dilek;
Ocak, Süheyla;
Kasap, Büşra;
Sunamak Çifçi, Evrim;
Seker, Ali;
Bayhan, Ilhan Avni;
Apak, Hilmi

Publication type:

Article

Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies.

Published in:

Cancers, 2023, v. 15, n. 4, p. 1292, doi. 10.3390/cancers15041292

By:

Quarello, Paola;
Carli, Diana;
Biasoni, Davide;
Gerocarni Nappo, Simona;
Morosi, Carlo;
Cotti, Roberta;
Garelli, Emanuela;
Zucchetti, Giulia;
Spadea, Manuela;
Tirtei, Elisa;
Spreafico, Filippo;
Fagioli, Franca

Publication type:

Article

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Published in:

Cancers, 2023, v. 15, n. 3, p. 773, doi. 10.3390/cancers15030773

By:

Luca, Maria;
Carli, Diana;
Cardaropoli, Simona;
Milani, Donatella;
Cocchi, Guido;
Leoni, Chiara;
Macchiaiolo, Marina;
Bartuli, Andrea;
Tarani, Luigi;
Melis, Daniela;
Bontempo, Piera;
D'Elia, Gemma;
Prada, Elisabetta;
Vitale, Raffaele;
Grammegna, Angelina;
Tannorella, Pierpaola;
Sparago, Angela;
Pignata, Laura;
Riccio, Andrea;
Russo, Silvia

Publication type:

Article

Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome.

Published in:

Cancers, 2022, v. 14, n. 22, p. 5563, doi. 10.3390/cancers14225563

By:

Soejima, Hidenobu;
Hara, Satoshi;
Ohba, Takashi;
Higashimoto, Ken

Publication type:

Article

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.

Published in:

Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807

By:

Cardoso, Leila Cabral de Almeida;
Parra, Alejandro;
Gil, Cristina Ríos;
Arias, Pedro;
Gallego, Natalia;
Romanelli, Valeria;
Kantaputra, Piranit Nik;
Lima, Leonardo;
Llerena Júnior, Juan Clinton;
Arberas, Claudia;
Guillén-Navarro, Encarna;
Nevado, Julián;
Tenorio-Castano, Jair;
Lapunzina, Pablo

Publication type:

Article

Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.

Published in:

Cancers, 2022, v. 14, n. 13, p. N.PAG, doi. 10.3390/cancers14133083

By:

Eggermann, Thomas;
Maher, Eamonn R.;
Kratz, Christian P.;
Prawitt, Dirk

Publication type:

Article

Lateralized and Segmental Overgrowth in Children.

Published in:

Cancers, 2021, v. 13, n. 24, p. 6166, doi. 10.3390/cancers13246166

By:

Mussa, Alessandro;
Carli, Diana;
Cardaropoli, Simona;
Ferrero, Giovanni Battista;
Resta, Nicoletta

Publication type:

Article

Multilocus methylation defects in imprinting disorders.

Published in:

Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037

By:

Mackay, Deborah J. G.;
Eggermann, Thomas;
Buiting, Karin;
Garin, Intza;
Netchine, Irène;
Linglart, Agnès;
Perez de Nanclares, Guiomar

Publication type:

Article

Massive thymic hyperplasia in a neonate with Beckwith-Wiedemann syndrome.

Published in:

2016

By:

Sayed, Sajid;
Sharma, Vinod;
McBride, Craig A;
Levitt, David;
Alphonso, Nelson

Publication type:

journal article

Anesthetic management of tongue reduction in a case of Beckwith-Wiedemann syndrome.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 4, p. 562, doi. 10.4103/0970-9185.142863

By:

Batra, Meenu;
Valecha, Umesh K.

Publication type:

Article

CONTINUING EDUCATION HOME STUDY ACTIVITY.

Published in:: Neonatal Network, 2017, v. 36, n. 3, p. 174, doi. 10.1891/0730-0832.36.3.174
Publication type:: Article

Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.

Published in:

Neonatal Network, 2017, v. 36, n. 3, p. 129, doi. 10.1891/0730-0832.36.3.129

By:

Zammit, Matthew;
Caruana, Elton;
Cassar, David;
Calleja-Agius, Jean

Publication type:

Article

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 506, doi. 10.24953/turkjped.2018.05.006

By:

Bilgin, Burçak;
Kabaçam, Serkan;
Taşkıran, Ekim;
Şimşek-Kiper, Pelin Özlem;
Alanay, Yasemin;
Boduroğlu, Koray;
Utine, Gülen Eda

Publication type:

Article

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.

Published in:

PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007243

By:

Freschi, Andrea;
Hur, Stella K.;
Valente, Federica Maria;
Ideraabdullah, Folami Y.;
Sparago, Angela;
Gentile, Maria Teresa;
Oneglia, Andrea;
Di Nucci, Diego;
Colucci-D’Amato, Luca;
Thorvaldsen, Joanne L.;
Bartolomei, Marisa S.;
Riccio, Andrea;
Cerrato, Flavia

Publication type:

Article

Quantitative analysis of DNA methylation at multiple imprinted genes in single human preimplantation embryos by pyrosequencing.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S17, doi. 10.1016/S1472-6483(10)62304-8

By:

Huntriss, J.;
Woodfine, K.;
Huddleston, J.;
Murrell, A.;
Rutherford, A.;
Elder, K.;
Hemmings, K.;
Picton, H. M.

Publication type:

Article

Genetic basis and identification of candidate genes for wooden breast and white striping in commercial broiler chickens.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86176-4

By:

Lake, Juniper A.;
Dekkers, Jack C. M.;
Abasht, Behnam

Publication type:

Article

Beckwith-Wiedemann Syndrome.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2014, v. 32, n. 3, p. 167

By:

MOHSIN, F.;
ISLAM, R.;
BEGUM, T.;
AZAD, K.;
NAHAR, N.

Publication type:

Article

Familial Ankyloglossia -A Rare Report of three Cases in a Family.

Published in:

2017

By:

DEVASYA, ASHWIN;
SARPANGALA, MYTHRI

Publication type:

Case Study

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Published in:

Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0629-x

By:

Kraft, Florian;
Wesseler, Katharina;
Begemann, Matthias;
Kurth, Ingo;
Elbracht, Miriam;
Eggermann, Thomas

Publication type:

Article

Association of four imprinting disorders and ART.

Published in:

Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0623-3

By:

Hattori, Hiromitsu;
Hiura, Hitoshi;
Kitamura, Akane;
Miyauchi, Naoko;
Kobayashi, Norio;
Takahashi, Souta;
Okae, Hiroaki;
Kyono, Koichi;
Kagami, Masayo;
Ogata, Tsutomu;
Arima, Takahiro

Publication type:

Article

Anesthetic management of a neonate with Beckwith-Wiedemann syndrome posted for repair of exomphalos.

Published in:

Saudi Journal of Anaesthesia, 2016, v. 10, n. 2, p. 249, doi. 10.4103/1658-354X.169490

By:

CHANNABASAPPA S. M.;
PRADEEP S. H.;
DHARMAPPA S.;
SARJI D.

Publication type:

Article

The Igf2as Transcript is Exported into Cytoplasm and Associated with Polysomes.

Published in:

Biochemical Genetics, 2013, v. 51, n. 1/2, p. 119, doi. 10.1007/s10528-012-9547-8

By:

Duart-Garcia, Carolina;
Braunschweig, Martin

Publication type:

Article

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 844, doi. 10.1007/s10897-017-0182-8

By:

Duffy, Kelly A.;
Grand, Katheryn L.;
Zelley, Kristin;
Kalish, Jennifer M.

Publication type:

Article

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

Published in:

Journal of Perinatal Medicine, 2020, v. 48, n. 1, p. 74, doi. 10.1515/jpm-2019-0246

By:

Altmann, Judith;
Kiver, Verena;
Henrich, Wolfgang;
Weichert, Alexander

Publication type:

Article

<italic>NLRP</italic> genes and their role in preeclampsia and multi-locus imprinting disorders.

Published in:

Journal of Perinatal Medicine, 2018, v. 46, n. 2, p. 169, doi. 10.1515/jpm-2016-0405

By:

Soellner, Lukas;
Kopp, Kathrin Maria;
Mütze, Sabine;
Meyer, Robert;
Begemann, Matthias;
Rudnik, Sabine;
Rath, Werner;
Eggermann, Thomas;
Zerres, Klaus

Publication type:

Article

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Published in:

Human Genetics, 2014, v. 133, n. 3, p. 321, doi. 10.1007/s00439-013-1379-z

By:

Baskin, Berivan;
Choufani, Sanaa;
Chen, Yi-an;
Shuman, Cheryl;
Parkinson, Nicole;
Lemyre, Emmanuelle;
Micheil Innes, A.;
Stavropoulos, Dimitri;
Ray, Peter;
Weksberg, Rosanna

Publication type:

Article

Mortality and short‐term morbidity in infants with exomphalos.

Published in:

Pediatrics International, 2018, v. 60, n. 5, p. 438, doi. 10.1111/ped.13537

By:

Sakonidou, Susanna;
Ali, Kamal;
Farmer, Isabel;
Hickey, Ann;
Greenough, Anne

Publication type:

Article

11p15 duplication and 13q34 deletion with Beckwith- Wiedemann syndrome and factor VII deficiency.

Published in:

Pediatrics International, 2015, v. 57, n. 3, p. 486, doi. 10.1111/ped.12611

By:

Jurkiewicz, Dorota;
Kugaudo, Monika;
Tańska, Anna;
Wawrzkiewicz‐Witkowska, Angelika;
Tomaszewska, Agnieszka;
Kucharczyk, Marzena;
Cieślikowska, Agata;
Ciara, Elżbieta;
Krajewska‐Walasek, Małgorzata

Publication type:

Article

Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

Published in:

Pediatrics International, 2014, v. 56, n. 6, p. 931, doi. 10.1111/ped.12406

By:

Takama, Yuichi;
Kubota, Akio;
Nakayama, Masahiro;
Higashimoto, Ken;
Jozaki, Kosuke;
Soejima, Hidenobu

Publication type:

Article

DNA methylation errors in imprinting disorders and assisted reproductive technology.

Published in:

Pediatrics International, 2013, v. 55, n. 5, p. 542, doi. 10.1111/ped.12185

By:

Chiba, Hatsune;
Hiura, Hitoshi;
Okae, Hiroaki;
Miyauchi, Naoko;
Sato, Fumi;
Sato, Akiko;
Arima, Takahiro

Publication type:

Article

Neonatal urethral polyps associated with Beckwith- Wiedemann syndrome.

Published in:

Pediatrics International, 2013, v. 55, n. 5, p. 658, doi. 10.1111/ped.12096

By:

Anzai, Yuko;
Koshida, Shigeki;
Yanagi, Takahide;
Johnin, Kazuyoshi;
Takeuchi, Yoshihiro

Publication type:

Article

An Unusual Mass of the Right Face.

Published in:

2019

By:

Deere, Jackson;
Shah, Gopi;
Mitchell, Ron B.

Publication type:

Case Study

Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.

Published in:

Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 599, doi. 10.1177/10556656221148900

By:

Marsh, Jeffrey L;
Perlyn, Chad A

Publication type:

Article

LeFort III/I for Beckwith–Wiedemann Syndrome: A Case Report.

Published in:

Cleft Palate Craniofacial Journal, 2023, v. 60, n. 10, p. 1342, doi. 10.1177/10556656221101776

By:

Muller, John N.;
Shetye, Pradip R.;
Flores, Roberto L.

Publication type:

Article

Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1145, doi. 10.1177/10556656211036607

By:

Ainuz, Bar Y.;
Geisler, Emily L.;
Hallac, Rami R.;
Perez, Jeyna K.;
Seaward, James R.;
Kane, Alex A.

Publication type:

Article