Found: 179
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Accuracy and impact of prenatal diagnosis in infants with omphalocele.
- Published in:
- 2018
- By:
- Publication type:
- journal 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:
- Publication type:
- Article
3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.
- Published in:
- 2011
- By:
- Publication type:
- case study
Hyperinsulinemic Hypoglycemia in Childhood.
- Published in:
- European Journal of Therapeutics, 2023, v. 29, n. 4, p. 918, doi. 10.58600/eurjther1758
- By:
- Publication type:
- Article
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
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:
- Publication type:
- Article
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
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- Publication type:
- Article
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 7, p. 402, doi. 10.1038/jhg.2013.51
- By:
- Publication type:
- Article
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 3, p. 397, doi. 10.1007/s00467-011-2009-4
- By:
- Publication type:
- Article
Beckwith-Wiedemann Syndrome.
- Published in:
- Journal of Bangladesh College of Physicians & Surgeons, 2014, v. 32, n. 3, p. 167
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- 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:
- Publication type:
- Article
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pediatric Hernias: Diagnosis and Management.
- Published in:
- Pediatric Emergency Medicine Reports, 2023, v. 28, n. 11, p. 1
- 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:
- Publication type:
- Article
Epigenetics and assisted reproductive technology.
- Published in:
- Journal of Internal Medicine, 2011, v. 270, n. 5, p. 414, doi. 10.1111/j.1365-2796.2011.02445.x
- By:
- Publication type:
- Article
GlideScope for airway management in patients with Beckwith-Wiedemann syndrome: an update.
- Published in:
- Pediatric Anesthesia, 2016, v. 26, n. 2, p. 222, doi. 10.1111/pan.12788
- By:
- Publication type:
- Article
Anesthesia for an infant with Beckwith-Wiedman syndrome who underwent open heart surgery for complete atrioventricular canal defect.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 153, doi. 10.1038/jhg.2011.145
- By:
- Publication type:
- Article
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142
- By:
- Publication type:
- Article
11p15.4 Microdeletion Associates with Hemihypertrophy.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
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:
- Publication type:
- Article
Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132
- By:
- Publication type:
- Article
Evidence for anticipation in Beckwith-Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71
- By:
- Publication type:
- Article
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 965, doi. 10.1038/ejhg.2012.280
- By:
- Publication type:
- Article
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 788, doi. 10.1038/ejhg.2012.259
- By:
- 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:
- Publication type:
- Article
Síndrome de Beckwith-Wiedemann.
- Published in:
- Boletín Médico del Hospital Infantil de México, 2009, v. 66, n. 5, p. 451
- By:
- Publication type:
- Article
Unreliable Bodies: A Follow-up Twenty Years Later by a Mother and Daughter about the Impact of Illness and Disability on their Lives.
- Published in:
- Family Process, 2017, v. 56, n. 1, p. 262, doi. 10.1111/famp.12197
- By:
- Publication type:
- Article
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0470-z
- By:
- Publication type:
- Article
Reduction glossectomy for macroglossia in children.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Liver transplantation as definitive treatment of an unresectable mesenchymal hamartoma in a child with Beckwith-Wiedemann Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
After the Medical Error.
- Published in:
- 2017
- By:
- Publication type:
- journal article
GENOMIC IMPRINTING IN MAMMALS - A REVIEW.
- Published in:
- Agricultural Reviews, 2014, v. 35, n. 2, p. 148, doi. 10.5958/0976-0741.2014.00093.2
- By:
- Publication type:
- Article
Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi.
- Published in:
- 2017
- By:
- Publication type:
- Letter to the Editor
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166
- By:
- 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:
- Publication type:
- Article
An atypical case of hypomethylation at multiple imprinted loci.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218
- By:
- Publication type:
- Article
Omphalocoeles: A decade in review.
- Published in:
- South African Journal of Child Health, 2016, v. 10, n. 4, p. 211, doi. 10.7196/SAJCH.2016.v10i4.1149
- By:
- Publication type:
- Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
- By:
- Publication type:
- Article
Gain of function in CDKN1C.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 737, doi. 10.1038/ng.2336
- By:
- Publication type:
- Article
Anaesthetic considerations in an infant with Beckwith-Weidemann syndrome and hepatoblastoma for partial hepatectomy.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
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:
- Publication type:
- Article
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 943, doi. 10.1007/s10815-018-1173-x
- By:
- Publication type:
- Article
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Role of DNA methylation in imprinting disorders: an updated review.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5
- By:
- Publication type:
- Article
Implications on IVF patient care of discarding oocytes affected by smooth endoplasmic reticulum aggregates as recommended by the Alpha/ESHRE consensus.
- Published in:
- 2015
- By:
- Publication type:
- Letter