Results 31 to 40 of about 1,914,079 (159)

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome [PDF]

, 2017
Silver–Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead ...
Hiroyuki Moriuchi, Fukami, Maki, Kei Izumi, Watanabe, Satoshi, Kondoh, Tatsuro, Tatsuro Kondoh, Nakatomi, Akiko, Dateki, Sumito, Akiko Nakatomi, Matsubara, Keiko, Keiko Matsubara, Masayo Kagami, Kagami, Masayo, Izumi, Kei, Sumito Dateki, Satoshi Watanabe, Moriuchi, Hiroyuki, Maki Fukami   +17 more
core   +1 more source

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Disease Models & Mechanisms, 2020
Genomic imprinting, a phenomenon in which the two parental alleles are regulated differently, is observed in mammals, marsupials and a few other species, including seed-bearing plants. Dysregulation of genomic imprinting can cause developmental disorders
Suhee Chang, Marisa S. Bartolomei
doaj   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development

Epilepsia, EarlyView.
Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Silver-Russell syndrome: genetic basis and molecular genetic testing

Orphanet Journal of Rare Diseases, 2010
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically ...
Binder Gerhard, Begemann Matthias, Eggermann Thomas, Spengler Sabrina   +3 more
doaj   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Novel approaches for drug development against chronic primary pain: A systematic review

British Journal of Pharmacology, EarlyView.
Abstract Chronic primary pain (CPP) persisting for more than 3 months, associated with significant emotional distress without any known underlying cause, is an unmet medical need. Traditional or adjuvant analgesics do not provide satisfactory pain relief for a great proportion of these patients.
Valéria Tékus, Éva Borbély, Andreas Goebel, Ralf Baron, Zsófia Hajna, Zsuzsanna Helyes   +5 more
wiley   +1 more source

Silver–Russell syndrome: a literature review

Consilium Medicum
Slow growth and growth retardation compared to age norms are a common reason for seeking specialized medical care from a pediatrician and pediatric endocrinologist.
Alyona A. Antonova, Gulnara R. Sagitova, Galina A. Yamanova, Markha T. Yunusova, Malika R. Bekmurzaeva, Aminat Sh. Gazueva, Vasily M. Sereda   +6 more
doaj   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

, 2021
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907).
Lloreda-garcia, Jose Maria, Temple, Karen, Chantot-bastaraud, Sandra, De La Torre-sandoval, Cristina, Harbison, Madeleine D., Olmo-sanchez, Maria, Fernández-fructuoso, José Ramón, Netchine, Irene, Harbison, Madeleine   +8 more
core   +1 more source