Results 81 to 90 of about 58,220 (206)

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

Journal of Forensic Sciences, EarlyView.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil, Sharlize Pedroza Matute, Thomas Haizel, Sasitaran Iyavoo   +3 more
wiley   +1 more source

From autism to eating disorders and more: the role of oxytocin in neuropsychiatric disorders [PDF]

, 2016
Oxytocin (oxy) is a pituitary neuropeptide hormone synthesized from the paraventricular and supraoptic nuclei within the hypothalamus. Like other neuropeptides, oxy can modulate a wide range of neurotransmitter and neuromodulator activities. Additionally,
Di Bonaventura, Maria Vittoria Micioni, Gaetani, Silvana, Romano, Adele, Tempesta, Bianca   +3 more
core   +2 more sources

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

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

Journal of Medical Genetics, 2020
Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment.
O. Lokulo-Sodipe, L. Ballard, J. Child, H. Inskip, C. Byrne, M. Ishida, G. Moore, E. Wakeling, A. Fenwick, D. Mackay, J. Davies, K. Temple   +11 more
semanticscholar   +1 more source

Russell-Silver Syndrome: A Case Report with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Russell-Silver syndrome is a disorder present at birth characterized by low birth weight, poor postnatal growth, craniofacial disproportion, clinodactyly, normal intelligence, downward curvature of the corner of the mouth, syndactyly, cafe-au-fait spots,
Sreedevi, Sunil Chaudhary, P G Agnihotri, Praveen B Reddy, N B Nagaveni   +4 more
doaj   +1 more source

Association of Assisted Reproductive Technology Treatments with Imprinting Disorders

Global Medical Genetics, 2021
Assisted reproductive technology (ART) is a broad field in infertility that encompasses different types of treatments. These revolutionary treatment methods aimed to aid infertile or subfertile couples. Treatment was expanded exponentially, as 1 to 3% of
T. Kopca, Pinar Tulay
doaj   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

The Igf2as Transcript is Exported into Cytoplasm and Associated with Polysomes [PDF]

, 2018
Murine insulin-like growth factor 2 antisense (Igf2as) transcripts originate from the opposite strand of the same Igf2 locus as the Igf2 sense mRNA. The Igf2, insulin 2 (Ins2), and H19 genes form a cluster of imprinted genes on chromosome 7.
Braunschweig, Martin, Duart-Garcia, Carolina   +1 more
core  

Cutaneous and renal glomerular vasculopathy as a cause of acute kidney injury in dogs in the UK [PDF]

, 2015
To describe the signalment, clinicopathological findings and outcome in dogs presenting with acute kidney injury (AKI) and skin lesions between November 2012 and March 2014, in whom cutaneous and renal glomerular vasculopathy (CRGV) was suspected and ...
ARDISSINO, ARDISSINO, ARONSON, BIRNBAUM, BLOMBERY, BOURHY, BOYCE, BURNENS, CARPENTER, CHANTREY, COWAN, DELL'ORCO, DICKINSON, EUBIG, FERRER, FISCHER, FOURNEL, GARCIA, GOLDFARB, GREENE, HENDRICKS, HERTZKE, HOLLOWAY, KAVANAGH, LI, MILFORD, MONAHAN, MOORE, MORRIS, MUNDAY, NORIS, PASS, REBAR, RENTKO, ROBY, ROTERMUND, RUGGENENTI, SALVADORI, SYKES, TANGEMAN, TARR, TARR, UCHIDA, VAN DEN INGH, VICTORIA, WAIKAR, WALKER   +46 more
core   +1 more source

Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso Auditory processing, reading and writing in the Silver-Russell syndrome: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
O objetivo deste trabalho foi descrever os aspectos fonoaudiológicos de processamento auditivo, leitura e escrita de um paciente do gênero masculino com diagnóstico de síndrome de Silver-Russell.
Patrícia Fernandes Garcia, Karina Krähembühl Salvador, Tâmyne Ferreira Duarte de Moraes, Mariza Ribeiro Feniman, Patrícia de Abreu Pinheiro Crenitte   +4 more
doaj   +1 more source