Results 31 to 40 of about 18,499 (269)
Syndromic Disorders Caused by Disturbed Human Imprinting
JCRPE, 2020 Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition.
Diana Carli +3 more
doaj +1 more source
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
BMC Medical Genetics, 2018 Background Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystrophy (AHO) phenotype, which is ...
Arrate Pereda +3 more
doaj +1 more source
Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci [PDF]
Clinical Epigenetics, 2015 Published by BioMed Central, [S.l.]
Eggermann, Thomas +10 more
openaire +15 more sources
Pragmatic disorders and their social impact [PDF]
, 2011 Pragmatic disorders in children and adults have been the focus of clinical investigations for approximately 40 years. In that time, clinicians and researchers have established a diverse range of pragmatic phenomena that are disrupted in these disorders ...
Louise Cummings, Cummings, L
core +1 more source
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network [PDF]
, 2021 International audienceIntrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes.
Irène Netchine +15 more
core +1 more source
The importance of imprinting in the human placenta. [PDF]
PLoS Genetics, 2010 As a field of study, genomic imprinting has grown rapidly in the last 20 years, with a growing figure of around 100 imprinted genes known in the mouse and approximately 50 in the human. The imprinted expression of genes may be transient and highly tissue-
Jennifer M Frost, Gudrun E Moore
doaj +1 more source
Prenatal testing for imprinting disorders: A laboratory perspective
Prenatal Diagnosis, 2023 AbstractImprinting Disorders (ImpDis) are a group of congenital syndromes associated with up to four different types of molecular disturbances affecting the monoallelic and parent‐of‐origin specific expression of genomically imprinted genes. Though each ImpDis is characterized by aberrations at a distinct genetic site and a specific set of postnatal ...
Jasmin Beygo +6 more
openaire +3 more sources
Imprinting disorders and assisted reproductive technology [PDF]
Current Opinion in Endocrinology, Diabetes & Obesity, 2010 To summarize current evidence in the association of imprinting disorders and assisted reproductive technology.The worldwide usage of assisted reproductive technology (ART) has continued to increase since the first successful birth of a human after IVF. Since 2002, several reports have raised concerns that children conceived by ART are at increased risk
Lawrence N, Odom, James, Segars
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Parental imprinting: molecular mechanisms and related disorders [PDF]
, 2023 31 páginas, gráficos y tablas[ES] La impronta parental o impronta genómica es un fenómeno epigenético que regula la expresión génica diferencial según el origen parental del alelo.
Hernández Gutiérrez, Berta
core
Molecular testing for imprinting disorders [PDF]
Medizinische Genetik, 2020 AbstractImprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters. The molecular genetic causes and their respective frequencies vary between the different imprinting disorders so that each has its unique requirements for the ...
Beygo, Jasmin +3 more
openaire +2 more sources