Works matching DE "BECKWITH-Wiedemann syndrome"

Results: 187

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 985, doi. 10.1007/s10815-018-1228-z

By:

Johnson, John P.;
Beischel, Linda;
Schwanke, Corbin;
Styren, Katie;
Crunk, Amy;
Schoof, Jonathan;
Elias, Abdallah F.

Publication type:

Article

Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 943, doi. 10.1007/s10815-018-1173-x

By:

Cortessis, Victoria K.;
Azadian, Moosa;
Buxbaum, James;
Sanogo, Fatimata;
Song, Ashley Y.;
Sriprasert, Intira;
Wei, Pengxiao C.;
Yu, Jing;
Chung, Karine;
Siegmund, Kimberly D.

Publication type:

Article

Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF.

Published in:

2018

By:

Johnson, John P.;
Schoof, Jonathon;
Beischel, Linda;
Schwancke, Corbin;
Goldberg, James;
Black, Lauri;
Ross, Lori;
Bhatt, Suchina

Publication type:

Case Study

Role of DNA methylation in imprinting disorders: an updated review.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5

By:

Elhamamsy, Amr

Publication type:

Article

Implications on IVF patient care of discarding oocytes affected by smooth endoplasmic reticulum aggregates as recommended by the Alpha/ESHRE consensus.

Published in:

2015

By:

Shaw-Jackson, Chloë

Publication type:

Letter

Impact of Tongue Reduction on Overall Speech Intelligibility, Articulation and Oromyofunctional Behavior in 4 Children with Beckwith-Wiedemann Syndrome.

Published in:

Folia Phoniatrica et Logopaedica, 2012, v. 64, n. 2, p. 55, doi. 10.1159/000329569

By:

Van Lierde, K.;
Galiwango, G.;
Hodges, A.;
Bettens, K.;
Luyten, A.;
Vermeersch, H.

Publication type:

Article

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

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 169, doi. 10.2147/TACG.S35474

By:

Milani, Donatella;
Pezzani, Lidia;
Tabano, Silvia;
Miozzo, Monica

Publication type:

Article

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0347-z

By:

Qin Wang;
Qian Geng;
Qinghua Zhou;
Fuwei Luo;
Peining Li;
Jiansheng Xie

Publication type:

Article

Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de México Federico Gómez (2007-2012).

Published in:

Boletín Médico del Hospital Infantil de México, 2013, v. 70, n. 2, p. 158

By:

Moreno-Salgado, Rodrigo;
García-Delgado, Constanza;
Cervantes-Peredo, Alicia;
García Morales, Leticia;
Martínez-Barrera, Luis Enrique;
Peñaloza-Espinosa, Rosenda;
Fabiola Morán-Barroso, Verónica

Publication type:

Article

Síndrome de Beckwith-Wiedemann.

Published in:

Boletín Médico del Hospital Infantil de México, 2009, v. 66, n. 5, p. 451

By:

Morán-Barroso, Verónica Fabiola;
García-Delgado, Constanza;
Villa-Guillen, Mónica;
Bracho-Blanchet, Eduardo;
Perezpeña-Diazconti, Mario

Publication type:

Article

Beckwith Wiedemann syndrome: Do we need to screen for associated renal malignancy?

Published in:

2011

By:

Seshachalam, Arun;
Nandennavar, Manjunath;
Karpurmath, Shashidhar;
Sagar, T. G.

Publication type:

Letter

Adrenal masses associated with Beckwith Wiedemann syndrome in the newborn.

Published in:

African Journal of Paediatric Surgery, 2010, v. 7, n. 3, p. 209, doi. 10.4103/0189-6725.70431

By:

Taide, Devendra V.;
Bendre, Pradnya S.;
Redkar, Rajeev;
Hambarde, Sandeep

Publication type:

Article

A novel microgravity postural rehabilitation protocol in Beckwith Wiedemann syndrome: a case report.

Published in:

Clinica Terapeutica, 2020, v. 171, n. 6, p. e471, doi. 10.7417/CT.2020.2259

By:

Paolucci, T.;
Pezzi, L.;
Bellomo, R. G.;
Saggini, R.

Publication type:

Article

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

Published in:

2018

By:

Li, Niu;
Wang, Yirou;
Yang, Yu;
Wang, Pengpeng;
Huang, Hui;
Xiong, Shiyi;
Sun, Luming;
Cheng, Min;
Song, Cui;
Cheng, Xinran;
Ding, Yu;
Chang, Guoying;
Chen, Yao;
Xu, Yufei;
Yu, Tingting;
Yao, Ru-en;
Shen, Yiping;
Wang, Xiumin;
Wang, Jian

Publication type:

journal article

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275

By:

Arboleda, Valerie A;
Lee, Hane;
Parnaik, Rahul;
Fleming, Alice;
Banerjee, Abhik;
Ferraz-de-Souza, Bruno;
Délot, Emmanuèle C;
Rodriguez-Fernandez, Imilce A;
Braslavsky, Debora;
Bergadá, Ignacio;
Dell'Angelica, Esteban C;
Nelson, Stanley F;
Martinez-Agosto, Julian A;
Achermann, John C;
Vilain, Eric

Publication type:

Article

Gain of function in CDKN1C.

Published in:

Nature Genetics, 2012, v. 44, n. 7, p. 737, doi. 10.1038/ng.2336

By:

Riccio, Andrea;
Cubellis, Maria Vittoria

Publication type:

Article

Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

Published in:

Fetal & Pediatric Pathology, 2015, v. 34, n. 3, p. 190, doi. 10.3109/15513815.2015.1014952

By:

Rodriguez, Maria Matilde;
Correa-Medina, Mayrin;
Whittington, Elizabeth E.

Publication type:

Article

Beckwith-Wiedemann Syndrome, Delayed Abdominal Wall Closure, and Neonatal Intussusception -Case Report and Literature Review.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 6, p. 448, doi. 10.3109/15513815.2012.659410

By:

Moreira-Pinto, João;
Pereira, Joana;
Osório, Angélica;
Enes, Carlos;
R. Mota, Céu

Publication type:

Article

Virginal breast hypertrophy in a patient with Beckwith–Wiedemann syndrome.

Published in:

2018

By:

Szymańska, Edyta;
Moszczyńska, Elżbieta;
Polnik, Dariusz;
Szymańska, Sylwia;
Jurkiewicz, Elżbieta;
Pyzlak, Michał;
Armata, Michał;
Walewska‐wolf, Małgorzata;
Kaliciński, Piotr;
Rokicki, Dariusz;
Szalecki, Mieczysław

Publication type:

Case Study

An Unusual Mass of the Right Face.

Published in:

2019

By:

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

Publication type:

Case Study

An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029034

By:

Algar, Elizabeth;
Dagar, Vinod;
Sebaj, Menka;
Pachter, Nicholas

Publication type:

Article

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.

Published in:

Cell Division, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13008-015-0008-8

By:

Borges, Kleiton S.;
Arboleda, Valerie A.;
Vilain, Eric

Publication type:

Article

Trofoblasto, impronta y conflicto genómico en Gineco-Obstetricia.

Published in:

Revista Chilena de Obstetricia y Ginecología, 2015, v. 80, n. 3, p. 269, doi. 10.4067/S0717-75262015000300013

By:

Bustos Vidal, Juan Carlos

Publication type:

Article

Síndrome de Beckwith-Wiedemann y absceso perirrenal. Informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 4, p. 170

By:

Palacios-Acosta, José Martín;
Echávez-del Riego, Jaen;
Shalkow-Klincovstein, Jaime;
Leal-Leal, Carlos Alejandro;
Oldak-Skvirsky, David;
León-Hernández, Angélica

Publication type:

Article

Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies.

Published in:

Pediatric & Developmental Pathology, 2016, v. 19, n. 3, p. 202, doi. 10.2350/14-05-1494-PB.1

By:

Nistal, Manuel;
Paniagua, Ricardo;
González-Peramato, Pilar;
Reyes-Múgica, Miguel

Publication type:

Article

Nested Stromal Epithelial Tumor of the Liver in Beckwith-Wiedemann Syndrome.

Published in:

Pediatric & Developmental Pathology, 2013, v. 16, n. 4, p. 312, doi. 10.2350/13-02-1300-CR.1

By:

MALOWANY, JANET I.;
MERRITT, NEIL H.;
CHAN, NANCY G.;
BO-YEE NGAN

Publication type:

Article

Hydrops Fetalis in the Stillborn: A Series from the Central Region of Thailand.

Published in:

Pediatric & Developmental Pathology, 2010, v. 13, n. 5, p. 369, doi. 10.2350/09-12-0771-OA.1

By:

Taweevisit, Mana;
Thorner, Paul Scott

Publication type:

Article

Beckwith-Wiedemann Syndrome: Historical, Clinicopathological, and Etiopathogenetic Perspectives.

Published in:

Pediatric & Developmental Pathology, 2005, v. 8, n. 3, p. 287, doi. 10.1007/s10024-005-1154-9

By:

Cohen Jr, M. Michael

Publication type:

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

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Published in:

2009

By:

Lim, Derek;
Bowdin, Sarah C;
Tee, Louise;
Kirby, Gail A;
Blair, Edward;
Fryer, Alan;
Lam, Wayne;
Oley, Christine;
Cole, Trevor;
Brueton, Louise A;
Reik, Wolf;
Macdonald, Fiona;
Maher, Eamonn R

Publication type:

journal article

Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?

Published in:

2003

By:

Maher, Eamonn R;
Afnan, Masoud;
Barratt, Christopher L

Publication type:

journal article

A rare but distinctive placental lesion associated with Beckwith-Wiedemann syndrome.

Published in:

2002

By:

Steele, E. K.;
Johnston, K. M.;
Parker, M. J.

Publication type:

journal article

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67

By:

Lee, Beom Hee;
Kim, Gu-Hwan;
Oh, Tae Jeong;
Kim, Joo Hyun;
Lee, Jin-Joo;
Choi, Seung Hoon;
Lee, Joo Yeon;
Kim, Jae-Min;
Choi, In Hee;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 7, p. 402, doi. 10.1038/jhg.2013.51

By:

Soejima, Hidenobu;
Higashimoto, Ken

Publication type:

Article

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 2, p. 153, doi. 10.1038/jhg.2011.145

By:

Mayo, Sonia;
Garin, Intza;
Monfort, Sandra;
Roselló, Mónica;
Orellana, Carmen;
Oltra, Silvestre;
Zazo, Celia;
de Naclares, Guiomar Perez;
Martínez, Francisco

Publication type:

Article

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142

By:

Yamazawa, Kazuki;
Nakabayashi, Kazuhiko;
Matsuoka, Kentaro;
Masubara, Keiko;
Hata, Kenichiro;
Horikawa, Reiko;
Ogata, Tsutomu

Publication type:

Article

Perilobar Nephroblastomatosis: Natural History and Management.

Published in:

2014

By:

Stabouli, S.;
Printza, N.;
Dotis, J.;
Matis, A.;
Koliouskas, D.;
Gombakis, N.;
Papachristou, F.

Publication type:

Case Study

Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant.

Published in:

2014

By:

Zarate, Yuri A.;
Bosanko, Katherine A.;
Jarasvaraparn, Chaowapong;
Vengoechea, Jaime;
McDonough, Elizabeth M.

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

Reduction Glossectomy for Macroglossia in Beckwith-Wiedemann Syndrome: Is Post-Op Intubation Necessary?

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 1, p. 126, doi. 10.1177/1055665621991739

By:

Geisler, Emily L.;
Jeffers, Jeremiah;
Salhi, Saoussen;
Perlyn, Chad A.

Publication type:

Article

Tongue Reduction Surgery and Feeding Difficulties in Infants With Beckwith Wiedemann Syndrome: A Case Series.

Published in:

Cleft Palate Craniofacial Journal, 2019, v. 56, n. 5, p. 679, doi. 10.1177/1055665618794070

By:

Prendeville, Nicole;
Sell, Debbie

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

After the Medical Error.

Published in:

2017

By:

Worthen, Miranda

Publication type:

journal article