Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
J Tenorio, V Romanelli, A Martin‐Trujillo… - American journal of …, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an
excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia …
excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia …
[PDF][PDF] Overgrowth syndrome
Overgrowth Syndrome Page 1 1 Overgrowth Syndrome Yahan Li1, BS, MS, Callum G
Donnelly2 BVBio BVSc (Hons 1) DACT, Rocío Melissa Rivera3, BS, MS, Ph.D. 1,3Division of …
Donnelly2 BVBio BVSc (Hons 1) DACT, Rocío Melissa Rivera3, BS, MS, Ph.D. 1,3Division of …
[HTML][HTML] Characteristics associated with tumor development in individuals diagnosed with Beckwith–Wiedemann spectrum: Novel tumor-(epi) genotype-phenotype …
KA Duffy, KD Getz, ER Hathaway, ME Byrne… - Genes, 2021 - mdpi.com
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …
[HTML][HTML] Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines
J Brzezinski, C Shuman, S Choufani, P Ray… - European Journal of …, 2017 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …
[HTML][HTML] Prenatal ultrasound in fetuses with polycystic kidney appearance—expanding the diagnostic algorithm
C Simonini, EM Fröschen, J Nadal, B Strizek… - Archives of Gynecology …, 2023 - Springer
Purpose Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic
appearance in a single center between 1999 and 2020 with special focus on renal …
appearance in a single center between 1999 and 2020 with special focus on renal …
Hallmark discoveries in the biology of Wilms tumour
D Perotti, RD Williams, J Wegert, J Brzezinski… - Nature Reviews …, 2024 - nature.com
The modern study of Wilms tumour was prompted nearly 50 years ago, when Alfred
Knudson proposed the 'two-hit'model of tumour development. Since then, the efforts of …
Knudson proposed the 'two-hit'model of tumour development. Since then, the efforts of …
[HTML][HTML] Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
Abstract Background Imprinting disorders (ImpDis) comprise diseases which are caused by
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …
aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A …
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
D Carli, C Bertola, S Cardaropoli… - Journal of Medical …, 2021 - jmg.bmj.com
Background Most cases of Beckwith-Wiedemann spectrum (BWSp) are diagnosed after birth
and few studies evaluated the prenatal phenotype; here, we investigate these aspects in a …
and few studies evaluated the prenatal phenotype; here, we investigate these aspects in a …
[PDF][PDF] Syndromic disorders caused by disturbed human imprinting
D Carli, E Riberi, GB Ferrero… - Journal of Clinical …, 2020 - jag.journalagent.com
Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic
imprinting, affecting prenatal and postnatal growth, neurocognitive development …
imprinting, affecting prenatal and postnatal growth, neurocognitive development …
[HTML][HTML] Lateralized and segmental overgrowth in children
A Mussa, D Carli, S Cardaropoli, GB Ferrero, N Resta - Cancers, 2021 - mdpi.com
Simple Summary Congenital lateralized or segmental overgrowth (LO) disorders are
conditions characterized by excessive tissue growth of a body region often associated with a …
conditions characterized by excessive tissue growth of a body region often associated with a …