Works matching DE "BECKWITH-Wiedemann syndrome"
Results: 188
3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.
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- 2011
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- Publication type:
- Case Study
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
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
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- Pediatric Nephrology, 2012, v. 27, n. 3, p. 397, doi. 10.1007/s00467-011-2009-4
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- Article
Liver transplantation as definitive treatment of an unresectable mesenchymal hamartoma in a child with Beckwith-Wiedemann Syndrome.
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- 2017
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- Publication type:
- Case Study
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 3, p. 206, doi. 10.1159/000446435
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- Article
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 353, doi. 10.1159/000443398
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- Article
Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance.
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- Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 457, doi. 10.1159/000355544
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- Article
Multilocus methylation defects in imprinting disorders.
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- Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037
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- Article
Syndromes that Link the Endocrine System and Genitourinary Tract.
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- Turkish Journal of Pathology, 2015, v. 31, p. 155, doi. 10.5146/tjpath.2015.01322
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- Article
Syndromes that Link the Endocrine System and Genitourinary Tract.
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- Turkish Journal of Pathology, 2015, v. 31, p. 155, doi. 10.5146/tjpath.2015.01322
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- Article
CONTINUING EDUCATION HOME STUDY ACTIVITY.
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- Neonatal Network, 2017, v. 36, n. 3, p. 174, doi. 10.1891/0730-0832.36.3.174
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- Article
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.
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- Neonatal Network, 2017, v. 36, n. 3, p. 129, doi. 10.1891/0730-0832.36.3.129
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- Article
Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.
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- Cell Division, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13008-015-0008-8
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- Article
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
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
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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- Article
Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation.
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- 2015
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- Publication type:
- Case Study
Virginal breast hypertrophy in a patient with Beckwith–Wiedemann syndrome.
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- 2018
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- Publication type:
- Case Study
Impact of Tongue Reduction on Overall Speech Intelligibility, Articulation and Oromyofunctional Behavior in 4 Children with Beckwith-Wiedemann Syndrome.
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- Folia Phoniatrica et Logopaedica, 2012, v. 64, n. 2, p. 55, doi. 10.1159/000329569
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- Article
SURGICAL MANAGEMENT OF MACROGLOSSIA IN SYNDROMIC PATIENTS: CASE REPORT.
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- Brazilian Journal of Surgery & Clinical Research, 2018, v. 22, n. 3, p. 24
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- Article
Surgical Treatment of Congenital True Macroglossia.
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- Case Reports in Dentistry, 2013, p. 1, doi. 10.1155/2013/489194
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- Article
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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- Article
Epigenetics is seen as possible key to cloning.
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- 2001
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- Publication type:
- journal article
Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link?
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- 2017
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- Publication type:
- Case Study
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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- Article
Beckwith Wiedemann syndrome: Do we need to screen for associated renal malignancy?
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- 2011
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- Letter
Adrenal masses associated with Beckwith Wiedemann syndrome in the newborn.
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- African Journal of Paediatric Surgery, 2010, v. 7, n. 3, p. 209, doi. 10.4103/0189-6725.70431
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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
Biallelic expression of Tssc4, Nap1l4, Phlda2 and Osbpl5 in adult cattle.
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- Journal of Genetics, 2015, v. 94, n. 3, p. 391, doi. 10.1007/s12041-015-0530-0
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- Article
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0819-3
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- Article
Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report.
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- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0675-1
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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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- 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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- Publication type:
- Case Study
Perilobar Nephroblastomatosis: Natural History and Management.
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- 2014
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- Publication type:
- Case Study
Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant.
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- 2014
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- Publication type:
- Case Study
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.
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- 2011
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- Publication type:
- journal article
Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.
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- 2011
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- Publication type:
- journal article
Reduction glossectomy for macroglossia in children.
- Published in:
- 2015
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- Publication type:
- Case Study
Beckwith-Wiedemann Syndrome.
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- Journal of Bangladesh College of Physicians & Surgeons, 2014, v. 32, n. 3, p. 167
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- Article
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0347-z
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- Article
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01530-8
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- Article
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
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- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 985, doi. 10.1007/s10815-018-1228-z
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- Article
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.
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- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 943, doi. 10.1007/s10815-018-1173-x
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- Article
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF.
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- 2018
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- Publication type:
- Case Study
Role of DNA methylation in imprinting disorders: an updated review.
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- Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5
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- Publication type:
- Article