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A Commemorative Issue in Honor of Professor Merlin G. Butler's Retirement

This Special Issue of the International Journal of Molecular Sciences is dedicated to Professor Merlin G. Butler, in recognition of his retirement and to commemorate his substantial contributions to the field of genetics and genomics-driven medical care. Dr. Butler has been a pioneer in the expansio...

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Gardado en:
Formato: Online
Idioma:inglés
Publicado: MDPI - Multidisciplinary Digital Publishing Institute 2025
Subjects:
DNA methylation
episignature
epigenetics
copy number variant
neurodevelopmental disorder
genomic disorder
FMR1 gene
fragile X syndrome
FMR1 gray zone or intermediate alleles
connective tissue-related disorders
sleep-related breathing disorders
obstructive sleep apnea
polysomnography
growth hormone
before-after comparison
obesity
genetics
monogenic
polygenic
Prader-Willi
syndrome
Prader-Willi syndrome
genotype
phenotype
hypothalamus
brain development
array CGH
CGR
complex genomic rearrangements
chromothripsis
cryptic rearrangement
OGM
optical genome mapping
genome sequencing
DEE
developmental and epileptic encephalopathy
SCN1A
SCN2A
body composition
muscle strength
non-alcoholic fatty liver disease
children
Prader-Willi syndrome (PWS)
high-resolution chromosomal microarray
PWS molecular genetic classes
typical 15q11-q13 deletion subtypes
maternal disomy 15 subclasses
atypical PWS genetic findings
DESTINY PWS
Prader–Willi syndrome
hyperphagia
clinical trials
Prader–Willi syndrome (PWS)
typical 15q11-q13 Type I
Type II deletions
15q11.2 BP1-BP2 deletion
clinical findings
autonomic nervous system (ANS)
childhood obesity
FMR1
epigenetic boundary
premutation
methylation intellectual disability
n/a
Mowat–Wilson syndrome (MWS)
case report
review
ZEB2 gene variants
ZEB2 protein domains and defects
ZEB2 functional molecular interactions
thema EDItEUR::M Medicine and Nursing
Acceso en liña:ONIX_20250220_9783725830329_525
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Summary:This Special Issue of the International Journal of Molecular Sciences is dedicated to Professor Merlin G. Butler, in recognition of his retirement and to commemorate his substantial contributions to the field of genetics and genomics-driven medical care. Dr. Butler has been a pioneer in the expansion of our understanding of how genetics can help inform healthcare professionals regarding individuals with neurodevelopmental syndromes and conditions. This commemorative Special Issue focuses on original research and review articles evaluating innovative molecular and computational approaches for studying the mechanisms underlying the expression and development of both common and rare genetic conditions.

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