Results 91 to 100 of about 58,780 (225)

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

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

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  

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

Neurodiversity and intersectionality in the workplace: A narrative review and research agenda

International Journal of Management Reviews, EarlyView.
Abstract Neurodiversity has important implications for individuals and organizations as an increasingly salient but under‐researched dimension of diversity in the workplace. In this article, we provide an interdisciplinary review of neurodiversity research through the lens of intersectionality, with a particular focus on the potential ways ...
Thomas Calvard, Debora Gottardello, Ji‐Won Song   +2 more
wiley   +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

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Genes, 2021
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (
P. Tannorella, D. Minervino, S. Guzzetti, A. Vimercati, L. Calzari, G. Patti, M. Maghnie, A. Allegri, D. Milani, G. Scuvera, M. Mariani, P. Modena, A. Selicorni, L. Larizza, S. Russo   +14 more
semanticscholar   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature

The Pan African Medical Journal, 2013
Le syndrome de Silver Russell (SSR) est une maladie génétique rare. Sa prévalence estimée à 1/100.000. Il s'agit d'une pathologie de l'empreinte parentale, caractérisée par une grande diversité phénotypique.
Afaf Lamzouri, Ilham Ratbi, Abdelaziz Sefiani   +2 more
doaj   +1 more source

Antimicrobial nano-silver non-woven polyethylene terephthalate fabric via an atmospheric pressure plasma deposition process [PDF]

, 2015
An antimicrobial nano-silver non-woven polyethylene terephthalate (PET) fabric has been prepared in a three step process. The fabrics were first pretreated by depositing a layer of organosilicon thin film using an atmospheric pressure plasma system, then
Aziz, Gaelle, Coenye, Tom, Cools, Pieter, De Geyter, Nathalie, Deng, Xiaolong, Leys, Christophe, Morent, Rino, Nikiforov, Anton   +7 more
core   +1 more source