Works matching DE "BECKWITH-Wiedemann syndrome"
Results: 187
Síndrome de Beckwith-Wiedemann y absceso perirrenal. Informe de un caso y revisión de la literatura.
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- Acta Pediatrica de Mexico, 2012, v. 33, n. 4, p. 170
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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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Fatty degeneration in a Wilms' tumour after chemotherapy.
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- 2002
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- journal 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
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
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
Trofoblasto, impronta y conflicto genómico en Gineco-Obstetricia.
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- Revista Chilena de Obstetricia y Ginecología, 2015, v. 80, n. 3, p. 269, doi. 10.4067/S0717-75262015000300013
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Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.
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- PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005916
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Macroglossia and omphalocele in neonate.
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- 2018
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- Case Study
Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.
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- Journal of Perinatal Medicine, 2020, v. 48, n. 1, p. 74, doi. 10.1515/jpm-2019-0246
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- Article
<italic>NLRP</italic> genes and their role in preeclampsia and multi-locus imprinting disorders.
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- Journal of Perinatal Medicine, 2018, v. 46, n. 2, p. 169, doi. 10.1515/jpm-2016-0405
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3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.
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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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Macrodactyly.
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- Children, 2024, v. 11, n. 7, p. 753, doi. 10.3390/children11070753
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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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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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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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Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series.
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- 2021
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- Case Study
Beckwith-Wiedemann Syndrome: A Case Report.
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- Journal of Midwifery & Reproductive Health, 2021, v. 9, n. 3, p. 1, doi. 10.22038/jmrh.2021.57636.1701
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An Unusual Mass of the Right Face.
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- 2019
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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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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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- Case Study
Familial Ankyloglossia -A Rare Report of three Cases in a Family.
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- 2017
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- 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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Massive thymic hyperplasia in a neonate with Beckwith-Wiedemann syndrome.
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- 2016
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- journal 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
Síndrome de Beckwith-Wiedemann.
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- Boletín Médico del Hospital Infantil de México, 2009, v. 66, n. 5, p. 451
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Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
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- 2018
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- journal article
11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
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- 2020
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- journal article
Gain of function in CDKN1C.
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- Nature Genetics, 2012, v. 44, n. 7, p. 737, doi. 10.1038/ng.2336
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- Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
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- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
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Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
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- 2009
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- journal article
Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?
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- 2003
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- journal article
Fetal growth patterns in Beckwith-Wiedemann syndrome.
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- Clinical Genetics, 2016, v. 90, n. 1, p. 21, doi. 10.1111/cge.12759
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- Article
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.
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- Clinical Genetics, 2016, v. 89, n. 4, p. 403, doi. 10.1111/cge.12635
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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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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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Genome-wide androgenetic mosaicism.
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- Clinical Genetics, 2014, v. 85, n. 3, p. 282, doi. 10.1111/cge.12146
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Beckwith-Wiedemann syndrome: first epigenetic confirmed case report in China.
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- Clinical Genetics, 2013, v. 84, n. 6, p. 603, doi. 10.1111/cge.12096
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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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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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Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
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- Clinical Genetics, 2012, v. 81, n. 4, p. 350, doi. 10.1111/j.1399-0004.2011.01822.x
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Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132
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Evidence for anticipation in Beckwith-Wiedemann syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71
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Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 965, doi. 10.1038/ejhg.2012.280
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Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259
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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166
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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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An atypical case of hypomethylation at multiple imprinted loci.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218
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- Article