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The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2019, v. 145, n. 12, p. 3115, doi. 10.1007/s00432-019-03038-3
- By:
- Publication type:
- Article
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Remittent hyperammonemia in congenital portosystemic shunt.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Cell‐Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.
- Published in:
- International Journal of Pediatrics, 2024, v. 2024, p. 1, doi. 10.1155/2024/3037937
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- Publication type:
- Article
Sonographic diagnosis of pulmonary embolism with cardiac arrest without major dilation of the right ventricle or direct sign of lower limb venous thrombosis.
- Published in:
- Journal of Clinical Ultrasound, 2012, v. 40, n. 8, p. 529, doi. 10.1002/jcu.20860
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- Publication type:
- Article
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.
- Published in:
- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-020-01257-z
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- Publication type:
- Article
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 6, p. 731, doi. 10.3390/life14060731
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- Publication type:
- Article
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 8, p. 2919, doi. 10.1007/s00431-022-04497-6
- By:
- Publication type:
- Article
Genealogy of breastfeeding.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Adult experiences in Beckwith–Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 116, doi. 10.1002/ajmg.c.32046
- By:
- Publication type:
- Article
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 520, doi. 10.1002/ajmg.c.32021
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- Publication type:
- Article
Predictivity of Clinical Findings and Doppler Ultrasound in Pediatric Acute Scrotum.
- Published in:
- Urology Journal, 2016, v. 13, n. 4, p. 2779
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- Publication type:
- Article
Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3052, doi. 10.1002/ajmg.a.61900
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- Publication type:
- Article
Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1691, doi. 10.1002/ajmg.a.61301
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- Publication type:
- Article
Cover Image, Volume 179A, Number 9, September 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. i, doi. 10.1002/ajmg.a.61318
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- Publication type:
- Article
Nomenclature and definition in asymmetric regional body overgrowth.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
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- Publication type:
- Article
Cover Image, Volume 173A, Number 7, July 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 585, doi. 10.1002/ajmg.a.38077
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- Publication type:
- Article
Constitutional bone impairment in Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 692, doi. 10.1002/ajmg.a.38086
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- Publication type:
- Article
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3120, doi. 10.1002/ajmg.a.36697
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- Publication type:
- Article
Prevalence of beckwith-wiedemann syndrome in North West of Italy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080
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- Publication type:
- Article
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
- Published in:
- Genes, Chromosomes & Cancer, 2023, v. 62, n. 12, p. 703, doi. 10.1002/gcc.23188
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- Publication type:
- Article
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 11, p. 689, doi. 10.1002/gcc.23086
- By:
- Publication type:
- Article
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 12, p. 740, doi. 10.1002/gcc.23092
- By:
- Publication type:
- Article
The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Bone Impairment in Phenylketonuria Is Characterized by Circulating Osteoclast Precursors and Activated T Cell Increase.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014167
- By:
- Publication type:
- Article
Galectin-3 as a Presurgical Immunocytodiagnostic Marker of Minimally Invasive Follicular Thyroid Carcinoma.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5152, doi. 10.1210/jcem.86.11.8043
- By:
- Publication type:
- Article
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 4, p. 2448, doi. 10.3390/ijerph19042448
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- Publication type:
- Article
Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue.
- Published in:
- 2023
- By:
- Publication type:
- Editorial
Lateralized and Segmental Overgrowth in Children.
- Published in:
- Cancers, 2021, v. 13, n. 24, p. 6166, doi. 10.3390/cancers13246166
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- Publication type:
- Article
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith–Wiedemann Syndrome.
- Published in:
- Cancers, 2019, v. 11, n. 1, p. 86, doi. 10.3390/cancers11010086
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- Publication type:
- Article
Papillary thyroid cancer and autoimmune polyglandular syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 793, doi. 10.1515/jpem-2014-0268
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- Publication type:
- Article
Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 149, doi. 10.1515/jpem-2013-0160
- By:
- Publication type:
- Article
Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 53, doi. 10.1515/jpem-2013-0159
- By:
- Publication type:
- Article
When to operate on ovarian cysts in children?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 5/6, p. 427, doi. 10.1515/jpem-2012-0049
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- Publication type:
- Article
Surgical enucleation of testicular leydigioma in a young child: case report and literature review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 839, doi. 10.1515/JPEM.2011.335
- By:
- Publication type:
- Article
Image Diagnosis in McCune-Albright Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, p. 561, doi. 10.1515/jpem.2006.19.s2.561
- By:
- Publication type:
- Article
Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 1, p. 45, doi. 10.1530/EJE-20-1444
- By:
- Publication type:
- Article
Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology.
- Published in:
- European Journal of Endocrinology, 2015, v. 173, n. 6, p. 801, doi. 10.1530/EJE-15-0484
- By:
- Publication type:
- Article
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00955
- By:
- Publication type:
- Article
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.761171
- By:
- Publication type:
- Article
The broad spectrum of COVID-like patients initially negative at RT-PCR testing: a cohort study.
- Published in:
- BMC Public Health, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12889-021-12409-w
- By:
- Publication type:
- Article
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 624, doi. 10.1111/cge.14047
- By:
- Publication type:
- Article
A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 719, doi. 10.1111/cge.13931
- By:
- Publication type:
- Article
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01747-w
- By:
- Publication type:
- Article
Heterotopic pancreas in Meckel's diverticulum in a 7-year-old child with intussusception and recurrent gastrointestinal bleeding: Case report and literature review focusing on diagnostic controversies.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Obituary for Prof. Alberto Ponzone.
- Published in:
- 2022
- By:
- Publication type:
- Obituary
In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27–31).
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 584, doi. 10.1007/s10545-009-9959-8
- By:
- Publication type:
- Article
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization.
- Published in:
- 2019
- By:
- Publication type:
- Letter