Works matching Beckwith-Wiedemann syndrome

Results: 769

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

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

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

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

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

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

Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography.

Published in:

Radiologia Brasileira, 2013, v. 46, n. 6, p. 379, doi. 10.1590/S0100-39842013000600012

By:

Júnior, Edward Araujo;
Simioni, Christiane;
Machado Nardozza, Luciano Marcondes;
Moron, Antonio Fernandes

Publication type:

Article

Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2014, v. 27, n. 15, p. 1607, doi. 10.3109/14767058.2013.864633

By:

Ferianec, Vladimír;
Bartova, Michaela

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

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

Perioperative Management of a Pediatric Patient with Beckwith–Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser.

Published in:

Children, 2023, v. 10, n. 9, p. 1467, doi. 10.3390/children10091467

By:

Izzi, Antonio;
Marchello, Vincenzo;
Manuali, Aldo;
Cassano, Lazzaro;
Di Francesco, Andrea;
Mastromatteo, Annalisa;
Recchia, Andreaserena;
Tonti, Maria Pia;
D'Onofrio, Grazia;
Del Gaudio, Alfredo

Publication type:

Article

Perioperative nursing of a newborn with Beckwith-Wiedemann syndrome.

Published in:

Frontiers of Nursing, 2022, v. 9, n. 4, p. 445, doi. 10.2478/fon-2022-0056

By:

Zhu, Qian;
Wang, Yue;
Hou, Jie-Yi;
Wang, Si-Yu

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

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

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

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

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

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

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

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

Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.

Published in:

Hormone Research in Paediatrics, 2016, v. 86, n. 3, p. 206, doi. 10.1159/000446435

By:

Brioude, Frederic;
Nicolas, Carole;
Marey, Isabelle;
Gaillard, Stephan;
Bernier, Michèle;
Das Neves, Cristina;
Le Bouc, Yves;
Touraine, Philippe;
Netchine, Irene

Publication type:

Article

Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.

Published in:

Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 353, doi. 10.1159/000443398

By:

Güemes, Maria;
Shah, Pratik;
Roženková, Klára;
Gilbert, Clare;
Morgan, Kate;
Hussain, Khalid

Publication type:

Article

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 457, doi. 10.1159/000355544

By:

Brioude, F.;
Lacoste, a.;
Netchine, I.;
Vazquez, M.-P.;
auber, F.;
audry, G.;
Gauthier-Villars, M.;
Brugieres, L.;
Gicquel, C.;
Le Bouc, Y.;
Rossignol, S.

Publication type:

Article

Fibroepithelial Breast Tumors in a Teenager with Beckwith-Wiedemann Syndrome: A Case Report and Review of Literature.

Published in:

2021

By:

Oktay, Ayşenur;
Esmat, Habib Ahmad;
Aslan, Özge

Publication type:

Case Study

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

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Published in:

Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0546-4

By:

Dagar, Vinod;
Hutchison, Wendy;
Muscat, Andrea;
Krishnan, Anita;
Hoke, David;
Buckle, Ashley;
Siswara, Priscillia;
Amor, David J.;
Mann, Jeffrey;
Pinner, Jason;
Colley, Alison;
Wilson, Meredith;
Sachdev, Rani;
McGillivray, George;
Edwards, Matthew;
Kirk, Edwin;
Collins, Felicity;
Jones, Kristi;
Taylor, Juliet;
Hayes, Ian

Publication type:

Article

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Published in:

Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8

By:

Russo, Silvia;
Calzari, Luciano;
Mainini, Ester;
Guzzetti, Sara;
Finelli, Palma;
Larizza, Lidia;
Calcagno, Annalisa;
Maghnie, Mohamad;
Divizia, Maria Teresa;
Melis, Daniela;
Manfredini, Emanuela;
Pecile, Vanna;
Mussa, Alessandro;
Battista Ferrero, Giovanni;
Cassina, Matteo;
Clementi, Maurizio;
Di Candia, Stefania;
Tabano, Silvia;
Miozzo, Monica;
Sirchia, Silvia

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

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01530-8

By:

Elefante, Pierandrea;
Spedicati, Beatrice;
Faletra, Flavio;
Pignata, Laura;
Cerrato, Flavia;
Riccio, Andrea;
Barbi, Egidio;
Memo, Luigi;
Travan, Laura

Publication type:

Article

Depression and Anxiety in Pediatric Patients with Beckwith–Wiedemann Syndrome: A Pilot Study.

Published in:

Children, 2024, v. 11, n. 3, p. 342, doi. 10.3390/children11030342

By:

D'Onofrio, Grazia;
Mastromatteo, Annalisa;
Di Francesco, Andrea;
Izzi, Antonio;
Marchello, Vincenzo;
Manuali, Aldo;
Recchia, Andreaserena;
Tonti, Maria Pia;
Russo, Maria Lazzarina;
Affatato, Maria Pia;
Rossato, Alessandra;
Giuntoli, Cecilia;
Palladino, Nicola;
Germano, Michele;
Pastore, Maria Rosa;
Cassano, Lazzaro

Publication type:

Article

Psychosocial Difficulties in Preschool-Age Children with Beckwith–Wiedemann Syndrome: An Exploratory Study.

Published in:

Children, 2022, v. 9, n. 4, p. 551, doi. 10.3390/children9040551

By:

Butti, Niccolò;
Castagna, Annalisa;
Montirosso, Rosario

Publication type:

Article

Beckwith-Wiedemann sendromuna farklı bir bakiş: yardımcı üreme teknikleri, prematürelik ve dil küçültme.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2011, v. 54, n. 1, p. 35

By:

Öztürk, M. Adnan;
Akın, Mustafa Ali;
Canpolat, Mehmet;
Çoruh, Atilla;
Akçakuş, Mustafa;
Güneş, Tamer;
Çoban, Dilek

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

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

The significance of molecular studies in the long-term follow-up of children with Beckwith-Wiedemann syndrome.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 2, p. 177

By:

Giżewska, Maria;
Wilk, Małgorzata;
Patalan, Michał;
Mackay, Deborah;
Peregud-Pogorzelski, Jarosław;
Gawrych, Elżbieta;
Petriczko, Elżbieta;
Walczak, Mieczysław;
Brodkiewicz, Andrzej

Publication type:

Article

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

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

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

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

Anaesthetic Management of a Child with Beckwith-Wiedemann Syndrome Posted for Tongue Reduction Surgery - A Case Report and Review of Literature.

Published in:

Airway (2665-9425), 2022, v. 5, n. 1, p. 45, doi. 10.4103/arwy.arwy_62_21

By:

Reena;
Jayanthi, Abhinay;
Rath, Amrita;
Mishra, Vineet;
Vikram, Ashutosh

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

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

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

Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0675-1

By:

Pellegrin, Maria Chiara;
Spinelli, Alessandro Mauro;
Tornese, Gianluca;
Barbi, Egidio

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

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

Management of a Patient with Beckwith-Wiedemann Syndrome.

Published in:

International Student Journal of Nurse Anesthesia, 2023, v. 23, n. 3, p. 12

By:

Skubal, Lesa M.

Publication type:

Article