Results 31 to 40 of about 10,203 (190)

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

Molecular Cytogenetics, 2021
Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3).
Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin   +7 more
doaj   +1 more source

Silver: Russell syndrome with cryptorchidism

Annals of Medical and Health Sciences Research, 2013
Sir, An 8-year-old boy was admitted for evaluation of bilateral undescended testes and short stature. The boy is a product of non-consanguineous marriage and was delivered at term with birth weight of 1.5 kg. The parents noticed a mild facial asymmetry since birth and poorly developed scrotum with absent testicles. After evaluation, the parents were
Reddy, H Babul, Neelaveni, K, Kumar, KVS Hari   +2 more
openaire   +3 more sources

Silver-Russell syndrome etiology, clinical manifestation, diagnostics and management – literature review.

, 2023
Background. Silver-Russell syndrome (SRS) is a rare disorder characterized by intrauterine and postnatal growth retardation, distinct facial features, and various systemic complications. The syndrome's global incidence varies from 1 in 30,000 to 1 in 100,
Jackutė, Gerda,
core   +1 more source

New Horizons in Short Children Born Small for Gestational Age

Frontiers in Pediatrics, 2021
Children born small for gestational age (SGA) comprise a heterogeneous group due to the varied nature of the cause. Approximately 85–90% have catch-up growth within the first 4 postnatal years, while the remainder remain short.
Irène Netchine, Manouk van der Steen, Abel López-Bermejo, Ekaterina Koledova, Mohamad Maghnie, Mohamad Maghnie   +5 more
doaj   +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

Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome [PDF]

, 2020
Silver-Russell syndrome is a rare genetic imprinting disorder. Two molecular causes of Silver-Russell syndrome have been identified: loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 (matUPD7).
Robinson, Louisa, Freeth, Megan, Lane, C., Robinson, L., Lane, Chloe, Freeth, M.   +5 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

Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity [PDF]

, 2020
Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics.
Stock F., Callea M., Zambito V., Cammarata-Scalisi F., Riccio A., Sparago A.   +5 more
core   +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

Towards the Development of a Conceptual Framework of the Determinants of Pre‐eclampsia: A Hierarchical Systematic Review of Biomarkers

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Pre‐eclampsia is a leading cause of maternal and perinatal morbidity and mortality. There are several determinants of individual pregnant women's risk of developing pre‐eclampsia, including biomarkers and ultrasound markers. Objective A conceptual framework to collate and summarise the extensive body of literature on biomarkers ...
Terteel Elawad, Hiten D. Mistry, Mai‐Lei Woo Kinshella, Marianne Vidler, Marie‐Laure Volvert, Helen Elwell, Veronique Filippi, Kelly Pickerill, Rachel Craik, Joel Singer, Rosemary Townsend, Hannah Blencowe, Eleni Z. Tsigas, Jeffrey N. Bone, Peter von Dadelszen, Laura A. Magee, the PRECISE Network, Umberto D’Alessandro, Anna Roca, Hawanatu Jah, Andrew Prentice, Melisa Martinez‐Alvarez, Brahima Diallo, Abdul Sesay, Sambou Suso, Baboucarr Njie, Fatima Touray, Yahaya Idris, Fatoumata Kongira, Modou F. S. Ndure, Lawrence Gibba, Abdoulie Bah, Yorro Bah, Marleen Temmerman, Angela Koech, Patricia Okiro, Geoffrey Omuse, Grace Mwashigadi, Mary Goretti Amondi, Consolata Juma, Joseph Mutunga, Moses Mukhanya, Robin Okello, Onesmus Wanje, Isaac Mwaniki, Marvin Ochieng, Emily Mwadime, Esperança Sevene, Corssino Tchavana, Salesio Macuacua, Anifa Vala, Helena Boene, Lazaro Quimice, Sonia Maculuve, Inacio Mandomando, Peter von Dadelszen, Laura A. Magee, Rachel Craik, Marie‐Laure Volvert, Hiten Mistry, Thomas Mendy, Donna Russell, Prestige Tatenda Makanga, Liberty Makacha, Reason Mlambo, Lucilla Poston, Rachel Tribe, Sophie Moore, Tatiana Salisbury, Aris Papageorghiou, Alison Noble, Rachel Craik, Hannah Blencowe, Veronique Filippi, Joy Lawn, Matt Silver, Joseph Akuze, Ursula Gazeley, Judith Cartwright, Guy Whitley, Sanjeev Krishna, Marianne Vidler, Jing Li, Jeff Bone, Mai‐Lei Woo Kinshella, Domena Tu, Ash Sandhu, Kelly Pickerill, Carla Carillho, Benjamin Barratt   +89 more
wiley   +1 more source