Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges
D Prawitt, T Eggermann - Frontiers in Genetics, 2024 - frontiersin.org
Overgrowth disorders comprise a group of entities with a variable phenotypic spectrum
ranging from tall stature to isolated or lateralized overgrowth of body parts and or organs …
ranging from tall stature to isolated or lateralized overgrowth of body parts and or organs …
A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
B Kamien, A Ronan, G Poke, I Sinnerbrink… - Molecular …, 2018 - karger.com
The overgrowth syndromes are important to diagnose, not just for accurate genetic
counseling, but also for knowledge surrounding cancer surveillance and prognosis. There …
counseling, but also for knowledge surrounding cancer surveillance and prognosis. There …
Overgrowth syndromes—evaluation, diagnosis, and management
J Manor, SR Lalani - Frontiers in Pediatrics, 2020 - frontiersin.org
Abnormally excessive growth results from perturbation of a complex interplay of genetic,
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …
Overgrowth syndromes—clinical and molecular aspects and tumour risk
F Brioude, A Toutain, E Giabicani, E Cottereau… - Nature Reviews …, 2019 - nature.com
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by
generalized or segmental excessive growth commonly associated with additional features …
generalized or segmental excessive growth commonly associated with additional features …
Epigenetic signatures in overgrowth syndromes: Translational opportunities
C Cytrynbaum, S Choufani… - American Journal of …, 2019 - Wiley Online Library
In recent years, numerous overgrowth syndromes have been found to be caused by
pathogenic DNA sequence variants in “epigenes,” genes that encode proteins that function …
pathogenic DNA sequence variants in “epigenes,” genes that encode proteins that function …
Genomic insights into growth and its disorders: an update
C de Bruin, A Dauber - Current Opinion in Endocrinology …, 2016 - journals.lww.com
Genomic insights into growth and its disorders: an update : Current Opinion in Endocrinology,
Diabetes and Obesity Genomic insights into growth and its disorders: an update : Current …
Diabetes and Obesity Genomic insights into growth and its disorders: an update : Current …
[图书][B] Overgrowth syndromes: A clinical guide
G Neri, L Boccuto, RE Stevenson - 2019 - books.google.com
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic
disorders (and others that are less well-defined) for which somatic overgrowth is a major …
disorders (and others that are less well-defined) for which somatic overgrowth is a major …
Epigenetic causes of overgrowth syndromes
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal
growth of various tissues. These disorders often present with tall stature, macrocephaly …
growth of various tissues. These disorders often present with tall stature, macrocephaly …
Commonest overgrowth syndromes
K Ekmektzoglou, T Demestiha, G Troupis… - Fetal and Pediatric …, 2012 - Taylor & Francis
Overgrowth syndromes, although rare, are diagnosed more frequently lately. Major
progress, such as the identification of genetic causes, has recently enhanced the delineation …
progress, such as the identification of genetic causes, has recently enhanced the delineation …
Approach to overgrowth syndromes in the genome era
DD Burkardt, K Tatton‐Brown, W Dobyns… - American Journal of …, 2019 - Wiley Online Library
This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the
current understanding of overgrowth syndromes. We clarify the terminology associated with …
current understanding of overgrowth syndromes. We clarify the terminology associated with …