Works matching DE "BECKWITH-Wiedemann syndrome"

Results: 188

Primary Pancreatic Neuroblastoma in a Neonate Presenting with Shock and Encephalopathy and Associated with Beckwith-Wiedemann Syndrome.

Published in:

Journal of Neonatology, 2025, v. 39, n. 4, p. 375, doi. 10.1177/09732179251314945

By:

Guindon, Michael;
Phillips, Bradley;
Croley, Mark;
Gallagher, Margaret;
Padial, Javier;
Haischer-Rollo, Gayle

Publication type:

Article

GlideScope for airway management in patients with Beckwith-Wiedemann syndrome: an update.

Published in:

Pediatric Anesthesia, 2016, v. 26, n. 2, p. 222, doi. 10.1111/pan.12788

By:

Grim, Kendra J.;
Aganga, Devon O.

Publication type:

Article

Anesthesia for an infant with Beckwith-Wiedman syndrome who underwent open heart surgery for complete atrioventricular canal defect.

Published in:

2012

By:

Choudhury, Minati;
Malik, Madhur;
Singh, Pooja;
Kiran, Usha

Publication type:

Letter

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

Clinical manifestations of placental mesenchymal dysplasia in Japan: A multicenter case series.

Published in:

Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 3, p. 1118, doi. 10.1111/jog.14647

By:

Kodera, Chisato;
Aoki, Saori;
Ohba, Takashi;
Higashimoto, Ken;
Mikami, Yoshiki;
Fukunaga, Masaharu;
Soejima, Hidenobu;
Katabuchi, Hidetaka

Publication type:

Article

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

Is the inferior vena cava dispensable?

Published in:

2007

By:

Jones, Vinci S.;
Shun, Albert

Publication type:

journal article

Focal nodular hyperplasia in a child with Beckwith-Wiedemann syndrome.

Published in:

2005

By:

Bordeianou, Liliana;
Ryan, Daniel P.;
Goldstein, Allan M.

Publication type:

journal article

Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation.

Published in:

2015

By:

Zaman, Rumina;
Maggi, alec;
Rajpoot, Sudeep K.;
Joshi, Divya-Devi

Publication type:

Case Study

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X

By:

Mackay, Deborah J.G.;
Bliek, Jet;
Lombardi, Maria Paola;
Russo, Silvia;
Calzari, Luciano;
Guzzetti, Sara;
Izzi, Claudia;
Selicorni, Angelo;
Melis, Daniela;
Temple, Karen;
Maher, Eamonn;
Brioude, Frédéric;
Netchine, Irène;
Eggermann, Thomas

Publication type:

Article

SURGICAL MANAGEMENT OF MACROGLOSSIA IN SYNDROMIC PATIENTS: CASE REPORT.

Published in:

Brazilian Journal of Surgery & Clinical Research, 2018, v. 22, n. 3, p. 24

By:

VICENTINI, CARLLINI BARROSO;
DOS SANTOS, LUCIANO PADILHA;
DE SOUZA LIMA DALUZ, WAGNER;
SAMPAIO, FELIPE CAVALCANTI;
CARDOSO, TALITA ROCHA;
MOTTA, ROGÉRIO HELÁDIO LOPES

Publication type:

Article

Methylation of KvDMR1 involved in regulating the imprinting of CDKN1C gene in cattle.

Published in:

Animal Genetics, 2015, v. 46, n. 4, p. 354, doi. 10.1111/age.12297

By:

Wang, Mengnan;
Li, Dongjie;
Zhang, Mingyue;
Yang, Wenzhi;
Cui, Yali;
Li, Shijie

Publication type:

Article

Prenatal Tanılı Omfalosel ve Beckwith-Wiedemann Sendromu: Olgu Sunumu.

Published in:

2011

By:

Tanrıverdi, Sema;
Ayçiçek, Rengin;
Bağcı, Onur;
Karaboğa, Bertan;
Şencan, Aydın;
Koyuncu, Faik Mümtaz

Publication type:

Case Study

Epigenetics is seen as possible key to cloning.

Published in:

2001

By:

Vastag, Brian;
Vastag, B

Publication type:

journal article

Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.

Published in:

2013

By:

Kim, Yoo-Mi;
Kim, Gu-Hwan;
Lee, Beom Hee;
Lee, jin-Joo;
Choi, Seong-Hoon;
Lee, Ju Yeon;
Yoo, Han-Wook

Publication type:

Abstract

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

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

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0819-3

By:

Wang, Ruixue;
Xiao, Yongmei;
Li, Dan;
Hu, Hui;
Li, Xiaolu;
Ge, Ting;
Yu, Ronghua;
Wang, Yizhong;
Zhang, Ting

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

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

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-Wiedemann Sendromlu Olguya Anestezik Yaklaşim: Olgu sunumu.

Published in:

Journal of Inonu University Medical Faculty, 2011, v. 18, n. 4, p. 278

By:

Erdoğan, M. Ali;
Yücel, Aytaç;
Bucak, Nizamettin;
Şanli, Mukadder;
Begeç, Zekine;
Ersoy, M. Özcan

Publication type:

Article

GENOMIC IMPRINTING IN MAMMALS - A REVIEW.

Published in:

Agricultural Reviews, 2014, v. 35, n. 2, p. 148, doi. 10.5958/0976-0741.2014.00093.2

By:

Gupta, Parul;
Chakraborty, Dibyendu;
Taggar, Raman;
Kumar, Dhirendra;
Sharma, Rajan;
Singh, Vishav P.

Publication type:

Article

Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi.

Published in:

2017

By:

Cheungpasitporn, Wisit;
Erickson, Stephen B.

Publication type:

Letter to the Editor

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 21, doi. 10.1111/cge.12759

By:

Mussa, A.;
Russo, S.;
de Crescenzo, A.;
Freschi, A.;
Calzari, L.;
Maitz, S.;
Macchiaiolo, M.;
Molinatto, C.;
Baldassarre, G.;
Mariani, M.;
Tarani, L.;
Bedeschi, M.F.;
Milani, D.;
Melis, D.;
Bartuli, A.;
Cubellis, M.V.;
Selicorni, A.;
Silengo, M.C.;
Larizza, L.;
Riccio, A.

Publication type:

Article

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 403, doi. 10.1111/cge.12635

By:

Mussa, A.;
Russo, S.;
Larizza, L.;
Riccio, A.;
Ferrero, G.B.

Publication type:

Article

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 3, p. 261, doi. 10.1111/cge.12496

By:

Ohtsuka, Y.;
Higashimoto, K.;
Sasaki, K.;
Jozaki, K.;
Yoshinaga, H.;
Okamoto, N.;
Takama, Y.;
Kubota, A.;
Nakayama, M.;
Yatsuki, H.;
Nishioka, K.;
Joh, K.;
Mukai, T.;
Yoshiura, K.‐i.;
Soejima, H.

Publication type:

Article

A novel de novo point mutation of the OCT-binding site in the IGF2/ H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 539, doi. 10.1111/cge.12318

By:

Higashimoto, K.;
Jozaki, K.;
Kosho, T.;
Matsubara, K.;
Fuke, T.;
Yamada, D.;
Yatsuki, H.;
Maeda, T.;
Ohtsuka, Y.;
Nishioka, K.;
Joh, K.;
Koseki, H.;
Ogata, T.;
Soejima, H.

Publication type:

Article

Genome-wide androgenetic mosaicism.

Published in:

Clinical Genetics, 2014, v. 85, n. 3, p. 282, doi. 10.1111/cge.12146

By:

Johnson, J.P.;
Waterson, J.;
Schwanke, C.;
Schoof, J.

Publication type:

Article

Beckwith-Wiedemann syndrome: first epigenetic confirmed case report in China.

Published in:

Clinical Genetics, 2013, v. 84, n. 6, p. 603, doi. 10.1111/cge.12096

By:

Zhang, T;
Xie, X;
Xu, D;
Lu, W;
Dong, C;
Liu, R;
Yang, T;
Wang, X;
An, Y;
Yu, H

Publication type:

Article

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 326, doi. 10.1111/cge.12143

By:

Jacob, KJ;
Robinson, WP;
Lefebvre, L

Publication type:

Article

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

Published in:

Clinical Genetics, 2013, v. 84, n. 1, p. 78, doi. 10.1111/cge.12038

By:

Kaltenbach, S;
Capri, Y;
Rossignol, S;
Denjoy, I;
Soudée, S;
Aboura, A;
Baumann, C;
Verloes, A

Publication type:

Article

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Published in:

Clinical Genetics, 2012, v. 81, n. 4, p. 350, doi. 10.1111/j.1399-0004.2011.01822.x

By:

Demars, J;
Gicquel, C

Publication type:

Article

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132

By:

Eggermann, Thomas;
Algar, Elizabeth;
Lapunzina, Pablo;
Mackay, Deborah;
Maher, Eamonn R;
Mannens, Marcel;
Netchine, Irène;
Prawitt, Dirk;
Riccio, Andrea;
Temple, I Karen;
Weksberg, Rosanna

Publication type:

Article

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71

By:

Berland, Siren;
Appelbäck, Mia;
Bruland, Ove;
Beygo, Jasmin;
Buiting, Karin;
Mackay, Deborah J G;
Karen Temple, I;
Houge, Gunnar

Publication type:

Article

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 9, p. 965, doi. 10.1038/ejhg.2012.280

By:

Gurrieri, Fiorella;
Zollino, Marcella;
Oliva, Antonio;
Pascali, Vincenzo;
Orteschi, Daniela;
Pietrobono, Roberta;
Camporeale, Antonella;
Coll Vidal, Monica;
Partemi, Sara;
Brugada, Ramon;
Bellocci, Fulvio;
Neri, Giovanni

Publication type:

Article

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259

By:

Gogiel, Magdalena;
Begemann, Matthias;
Spengler, Sabrina;
Soellner, Lukas;
Göretzlehner, Ulf;
Eggermann, Thomas;
Strobl-Wildemann, Gertrud

Publication type:

Article

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166

By:

Poole, Rebecca L;
Leith, Donald J;
Docherty, Louise E;
Shmela, Mansur E;
Gicquel, Christine;
Splitt, Miranda;
Temple, I Karen;
Mackay, Deborah J G

Publication type:

Article

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236

By:

Romanelli, Valeria;
Meneses, Heloisa N. M.;
Fernández, Luis;
Martínez-Glez, Victor;
Gracia-Bouthelier, Ricardo;
Fraga, Mario F.;
Guillén, Encarna;
Nevado, Julián;
Gean, Esther;
Martorell, Loreto;
Marfil, Victoria Esteban;
García-Miñaur, Sixto;
Lapunzina, Pablo

Publication type:

Article

An atypical case of hypomethylation at multiple imprinted loci.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218

By:

Baple, Emma L.;
Poole, Rebecca L.;
Mansour, Sahar;
Willoughby, Catherine;
Temple, I. Karen;
Docherty, Louise E.;
Taylor, Rohan;
Mackay, Deborah J. G.

Publication type:

Article

SÍNDROME DE BECKWITH-WIEDMANN: RELATO DE CASO DA INTERVENÇÃO FONOAUDIOLÓGICA.

Published in:

Revista CEFAC, 2011, v. 13, n. 2, p. 369, doi. 10.1590/S1516-18462010005000013

By:

de Lavra-Pinto, Bárbara;
Luz, Maria Júlia;
Motta, Ligia;
Gomes, Erissandra

Publication type:

Article

Nested Stromal Epithelial Tumor.

Published in:

Applied Radiology, 2023, p. 36, doi. 10.37549/ar2880

By:

Plitt, David D.;
Towbin, Richard B.;
Towbin, Alexander J.

Publication type:

Article