Results 231 to 240 of about 18,499 (269)

Lessons from clinical and genetic characterization of intellectual disability

open access: yes
Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

EndoCompass Project: Research Roadmap for Growth Disorders.

open access: yesHorm Res Paediatr
Gevers EF   +20 more
europepmc   +1 more source

Imprinting disorders

open access: yesNature Reviews Disease Primers, 2023
Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi syndrome, Angelman syndrome and Beckwith–Wiedemann syndrome.
Thomas Eggermann   +2 more
exaly   +12 more sources

Imprinting disorders and assisted reproductive technology [PDF]

open access: yesFertility and Sterility, 2009
To review currently available literature on the association between imprinting disorders (Beckwith-Wiedemann syndrome [BWS], Angelman syndrome [AS] and retinoblastoma) and assisted reproductive technology (ART) in humans.Publications related to imprinting/epigenetic disorders including BWS, AS, and retinoblastoma with ART, as well as articles ...
Alan Decherney, James H Segars
exaly   +8 more sources

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact [PDF]

open access: yesNature Reviews Genetics, 2019
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption leads to human disease.
David Monk   +2 more
exaly   +2 more sources

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