Works matching DE "BECKWITH-Wiedemann syndrome"
Results: 188
Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 3, p. 202, doi. 10.2350/14-05-1494-PB.1
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- Article
Nested Stromal Epithelial Tumor of the Liver in Beckwith-Wiedemann Syndrome.
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- Pediatric & Developmental Pathology, 2013, v. 16, n. 4, p. 312, doi. 10.2350/13-02-1300-CR.1
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- Article
Hydrops Fetalis in the Stillborn: A Series from the Central Region of Thailand.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 5, p. 369, doi. 10.2350/09-12-0771-OA.1
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- Article
Beckwith-Wiedemann Syndrome: Historical, Clinicopathological, and Etiopathogenetic Perspectives.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 3, p. 287, doi. 10.1007/s10024-005-1154-9
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- Article
Hyperinsulinemic Hypoglycemia in Childhood.
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- European Journal of Therapeutics, 2023, v. 29, n. 4, p. 918, doi. 10.58600/eurjther1758
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- Article
P09.23: Beckwith-Wiedemann syndrome: a case report.
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- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 205, doi. 10.1002/uog.9747
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- Article
P15.03: Beckwith-Wiedemann syndrome and raised human chorionic gonadotrophin levels: a case report.
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- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 220, doi. 10.1002/uog.9800
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11p15.4 Microdeletion Associates with Hemihypertrophy.
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- 2018
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- Case Study
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype.
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- 2014
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- Case Study
p57Kip2 is an unrecognized DNA damage response effector molecule that functions in tumor suppression and chemoresistance.
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- Oncogene, 2015, v. 34, n. 27, p. 3568, doi. 10.1038/onc.2014.287
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- Article
Prenatal Tanılı Omfalosel ve Beckwith-Wiedemann Sendromu: Olgu Sunumu.
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- 2011
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- Case Study
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.
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- Application of Clinical Genetics, 2014, v. 7, p. 169, doi. 10.2147/TACG.S35474
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Fatty degeneration in a Wilms' tumour after chemotherapy.
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- 2002
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- journal article
Perioperative nursing of a newborn with Beckwith-Wiedemann syndrome.
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- Frontiers of Nursing, 2022, v. 9, n. 4, p. 445, doi. 10.2478/fon-2022-0056
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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
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- Human Genetics, 2014, v. 133, n. 3, p. 321, doi. 10.1007/s00439-013-1379-z
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- Article
Familial Ankyloglossia -A Rare Report of three Cases in a Family.
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- 2017
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- Case Study
Epigenetics is seen as possible key to cloning.
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- 2001
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- journal article
Management of a Patient with Beckwith-Wiedemann Syndrome.
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- International Student Journal of Nurse Anesthesia, 2023, v. 23, n. 3, p. 12
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- Article
SÍNDROME DE BECKWITH-WIEDMANN: RELATO DE CASO DA INTERVENÇÃO FONOAUDIOLÓGICA.
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- Revista CEFAC, 2011, v. 13, n. 2, p. 369, doi. 10.1590/S1516-18462010005000013
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The Anesthetic Management of a Case of Beckwith-Weidemann Syndrome Presenting With a Large Tongue.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2011, v. 33, n. 3, p. 251
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- Article
Gigantism Remains a Clinical Challenge.
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- 2015
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- Letter to the Editor
Sonographic value in the diagnosis of gestational trophoblastic disease.
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- Pakistan Journal of Medical Sciences, 2011, v. 27, n. 2, p. 312
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- Article
Accuracy and impact of prenatal diagnosis in infants with omphalocele.
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- 2018
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- journal article
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
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- 2021
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- Case Study
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
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- 2021
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- Case Study
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
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- Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X
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Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
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Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
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- Journal of Human Genetics, 2013, v. 58, n. 7, p. 402, doi. 10.1038/jhg.2013.51
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- Article
Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 153, doi. 10.1038/jhg.2011.145
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- Article
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142
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Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
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- 2013
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- Abstract
Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi.
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- 2017
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- Letter to the Editor
Beckwith-Wiedemann sendromuna farklı bir bakiş: yardımcı üreme teknikleri, prematürelik ve dil küçültme.
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- Cocuk Sagligi ve Hastaliklari Dergisi, 2011, v. 54, n. 1, p. 35
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- Article
Omphalocoeles: A decade in review.
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- South African Journal of Child Health, 2016, v. 10, n. 4, p. 211, doi. 10.7196/SAJCH.2016.v10i4.1149
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- Article
A novel microgravity postural rehabilitation protocol in Beckwith Wiedemann syndrome: a case report.
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- Clinica Terapeutica, 2020, v. 171, n. 6, p. e471, doi. 10.7417/CT.2020.2259
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- Article
Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?
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- Fetal & Pediatric Pathology, 2015, v. 34, n. 3, p. 190, doi. 10.3109/15513815.2015.1014952
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Beckwith-Wiedemann Syndrome, Delayed Abdominal Wall Closure, and Neonatal Intussusception -Case Report and Literature Review.
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- Fetal & Pediatric Pathology, 2012, v. 31, n. 6, p. 448, doi. 10.3109/15513815.2012.659410
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- Article
Clinical manifestations of placental mesenchymal dysplasia in Japan: A multicenter case series.
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- Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 3, p. 1118, doi. 10.1111/jog.14647
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Beckwith-Wiedemann syndrome with placental chorangioma due to H19-differentially methylated region hypermethylation: A case report.
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- Journal of Obstetrics & Gynaecology Research, 2011, v. 37, n. 12, p. 1872, doi. 10.1111/j.1447-0756.2011.01654.x
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A rare but distinctive placental lesion associated with Beckwith-Wiedemann syndrome.
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- 2002
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- journal article
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization.
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- 2019
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- Letter
Mortality and short‐term morbidity in infants with exomphalos.
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- Pediatrics International, 2018, v. 60, n. 5, p. 438, doi. 10.1111/ped.13537
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11p15 duplication and 13q34 deletion with Beckwith- Wiedemann syndrome and factor VII deficiency.
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- Pediatrics International, 2015, v. 57, n. 3, p. 486, doi. 10.1111/ped.12611
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Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
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- Pediatrics International, 2014, v. 56, n. 6, p. 931, doi. 10.1111/ped.12406
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DNA methylation errors in imprinting disorders and assisted reproductive technology.
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- Pediatrics International, 2013, v. 55, n. 5, p. 542, doi. 10.1111/ped.12185
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- Article
Neonatal urethral polyps associated with Beckwith- Wiedemann syndrome.
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- Pediatrics International, 2013, v. 55, n. 5, p. 658, doi. 10.1111/ped.12096
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Beckwith—Wiedemann syndrome in the two newborns.
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- Journal of Clinical Neonatology, 2018, v. 7, n. 3, p. 162, doi. 10.4103/jcn.JCN_126_17
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- Article
Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 599, doi. 10.1177/10556656221148900
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- Article
LeFort III/I for Beckwith–Wiedemann Syndrome: A Case Report.
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- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 10, p. 1342, doi. 10.1177/10556656221101776
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- Article
Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.
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- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1145, doi. 10.1177/10556656211036607
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- Article