Works matching Beckwith-Wiedemann syndrome
Results: 753
Prenatal Tanılı Omfalosel ve Beckwith-Wiedemann Sendromu: Olgu Sunumu.
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- 2011
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- Case Study
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
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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- Article
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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- 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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- Article
Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.
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- Journal of Maternal-Fetal & Neonatal Medicine, 2014, v. 27, n. 15, p. 1607, doi. 10.3109/14767058.2013.864633
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- Article
Focal nodular hyperplasia in a child with Beckwith-Wiedemann syndrome.
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- 2005
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- Publication type:
- journal article
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.
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- Clinical Genetics, 2015, v. 88, n. 3, p. 261, doi. 10.1111/cge.12496
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- 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.
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- Clinical Genetics, 2014, v. 86, n. 6, p. 539, doi. 10.1111/cge.12318
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- Article
Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.
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- Clinical Genetics, 2013, v. 84, n. 4, p. 326, doi. 10.1111/cge.12143
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- Article
Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.
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- Clinical Genetics, 2013, v. 84, n. 1, p. 78, doi. 10.1111/cge.12038
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- Article
Beckwith-Wiedemann Sendromlu Olguya Anestezik Yaklaşim: Olgu sunumu.
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- Journal of Inonu University Medical Faculty, 2011, v. 18, n. 4, p. 278
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- Article
Perioperative Management of a Pediatric Patient with Beckwith–Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser.
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- Children, 2023, v. 10, n. 9, p. 1467, doi. 10.3390/children10091467
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- Article
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies.
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- Cancers, 2023, v. 15, n. 4, p. 1292, doi. 10.3390/cancers15041292
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- Article
Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome.
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- Cancers, 2022, v. 14, n. 22, p. 5563, doi. 10.3390/cancers14225563
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- Article
Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.
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- Cancers, 2022, v. 14, n. 13, p. N.PAG, doi. 10.3390/cancers14133083
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- Article
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
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
Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography.
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- Radiologia Brasileira, 2013, v. 46, n. 6, p. 379, doi. 10.1590/S0100-39842013000600012
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- Article
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
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
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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- Article
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
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
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
Tongue Reduction Surgery and Feeding Difficulties in Infants With Beckwith Wiedemann Syndrome: A Case Series.
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- Cleft Palate Craniofacial Journal, 2019, v. 56, n. 5, p. 679, doi. 10.1177/1055665618794070
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- Article
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
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- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8
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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 uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236
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- Article
Anesthetic management of tongue reduction in a case of Beckwith-Wiedemann syndrome.
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- Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 4, p. 562, doi. 10.4103/0970-9185.142863
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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
Beckwith-Wiedemann syndrome and Chiari I malformation-a case-based review of central nervous system involvement in hemihypertrophy syndromes.
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- Child's Nervous System, 2015, v. 31, n. 5, p. 637, doi. 10.1007/s00381-015-2642-5
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- Article
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
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.
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- Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 844, doi. 10.1007/s10897-017-0182-8
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- Article
Fibroepithelial Breast Tumors in a Teenager with Beckwith-Wiedemann Syndrome: A Case Report and Review of Literature.
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- 2021
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- Publication type:
- Case Study
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
Anaesthetic Management of a Child with Beckwith-Wiedemann Syndrome Posted for Tongue Reduction Surgery - A Case Report and Review of Literature.
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- Airway (2665-9425), 2022, v. 5, n. 1, p. 45, doi. 10.4103/arwy.arwy_62_21
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- Article
Depression and Anxiety in Pediatric Patients with Beckwith–Wiedemann Syndrome: A Pilot Study.
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- Children, 2024, v. 11, n. 3, p. 342, doi. 10.3390/children11030342
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- Article
Psychosocial Difficulties in Preschool-Age Children with Beckwith–Wiedemann Syndrome: An Exploratory Study.
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- Children, 2022, v. 9, n. 4, p. 551, doi. 10.3390/children9040551
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- Article
Clinical profile of a patient cohort with Beckwith-Wiedemann syndrome treated at the Hospital Infantil de México Federico Gómez (2007-2012).
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- Boletín Médico del Hospital Infantil de México, 2013, v. 70, n. 2, p. 158
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- Article
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
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- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0546-4
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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
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 506, doi. 10.24953/turkjped.2018.05.006
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- Article
The significance of molecular studies in the long-term follow-up of children with Beckwith-Wiedemann syndrome.
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- Turkish Journal of Pediatrics, 2014, v. 56, n. 2, p. 177
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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
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
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
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