Results 71 to 80 of about 58,780 (225)

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Clinical Epigenetics, 2020
Background Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat ...
Takanobu Inoue, A. Nakamura, Megumi Iwahashi-Odano, Kanako Tanase-Nakao, K. Matsubara, J. Nishioka, Y. Maruo, Y. Hasegawa, H. Suzumura, Seiji Sato, Yoshiyuki Kobayashi, N. Murakami, K. Nakabayashi, K. Yamazawa, T. Fuke, S. Narumi, A. Oka, T. Ogata, M. Fukami, M. Kagami   +19 more
semanticscholar   +1 more source

Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]

, 2020
Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena, Bannasch, Danika, Grahn, Robert, Kallenberg, Angelica, Rebhun, Robert, Weich, Kalie, York, Daniel   +6 more
core   +2 more sources

Silver-Russell Syndrome: Orthodontic Perspective

Journal of the College of Physicians and Surgeons Pakistan, 2020
Silver-Russell syndrome (SRS) is a rare disorder characterised by prenatal and postnatal growth deficiency, a relatively large head size with triangular face, a prominent forehead, body asymmetry, feeding difficulties, clinodactyly and other features.  Abnormalities of chromosome number 7 and 11 have been found in 60% of patients, but the diagnosis of ...
Zahra, Khalid, Kashif, Iqbal, Abdullah, Jan, Asif, Khurshid   +3 more
openaire   +3 more sources

Feeding problems in Silver-Russell syndrome [PDF]

Developmental Medicine and Child Neurology, 2001
In order to identify the prevalence and severity of feeding problems in children with Silver‐Russell syndrome(SRS) the feeding difficulties of 32 children with SRS and 32 age‐ and sex‐matched control children were assessed using the Feeding Assessment Questionnaire (Harris and Booth 1992).
J, Blissett, G, Harris, J, Kirk
openaire   +2 more sources

Paternal obesity is associated with IGF2 hypomethylation in newborns: results from a Newborn Epigenetics Study (NEST) cohort [PDF]

, 2013
Data from epidemiological and animal model studies suggest that nutrition during pregnancy may affect the health status of subsequent generations. These transgenerational effects are now being explained by disruptions at the level of the epigenetic ...
A Kerjean, A Murrell, A Soubry, AD Stein, Adelheid Soubry, Amy Murtha, AP Feinberg, Autumn Bernal, BE Levin, BR Carone, BT Heijmans, C Gemma, C Gicquel, C Hoyo, C Hoyo, Cathrine Hoyo, CC Boissonnas, DC Dolinoy, DC Dolinoy, DJ Barker, Frances Wang, G Kaati, GA Dunn, GP Ravelli, H Boerschmann, H Cui, H Cui, H Cui, J Baker, J Frystyk, JA McKay, Joanne Kurtzberg, Joellen M Schildkraut, JS Dyer, KJ Stothard, LM McCowan, M Braunschweig, M Cruz-Correa, M Ollikainen, ME Pembrey, ME Pembrey, MJ Steenman, MJ Sullivan, Q Wu, R Barres, R Figueroa-Colon, R Loomba, RA Waterland, RA Waterland, RA Waterland, Randy L Jirtle, RC Painter, RC Painter, RL Jirtle, RP Steegers-Theunissen, S Honda, S Katari, S Pathak, SA Tanumihardjo, SD McDonald, SF Ng, SK Murphy, SK Murphy, SK Murphy, SS Du Plessis, Susan K Murphy, W Chao, Z Huang, Zhiqing Huang   +68 more
core   +3 more sources

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

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome [PDF]

, 2016
Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
A Behnecke, A De Crescenzo, A Ibrahim, A Mussa, A Sparago, AC Smith, Andrea Riccio, B Keren, C Shuman, D Prawitt, David Monk, Deborah JG Mackay, Dirk Prawitt, DJ Mackay, DJ Mackay, E Meyer, Eamonn R Maher, EL Wakeling, Elizabeth Algar, F Brioude, F Brioude, F Brioude, Fiona Macdonald, Frédéric Brioude, G Binder, Gudrun Moore, H Bullman, HM Saal, Irène Netchine, J Beygo, J Bliek, Jet Bliek, JM Dupont, JM Kalish, Karen Grønskov, Karin Buiting, Katja Eggermann, KY Niederhoffer, L Cardarelli, L Tee, LE Docherty, Lukas Soellner, M Alders, M Begemann, M Begemann, M Constancia, M Elliott, M Kagami, Marcel Mannens, Matthias Begemann, MR DeBaun, P Monnier, Pablo Lapunzina, Paolo Lombardi, Rosanna Weksberg, S Azzi, S Azzi, S Bruce, S Kaltenbach, S Mulchandani, S Richards, S Schoenfelder, S Spengler, Silvia Russo, T Eggermann, T Eggermann, T Eggermann, T Eggermann, T Takenouchi, Thalia Antoniadi, Thomas Eggermann, Thomas Eggermann, Thomas Eggermann, Thomas Eggermann, W Abi Habib, WW Lam, X Cai, Y Ioannides, Zeynep Tümer   +78 more
core   +5 more sources

Impact of the gut microbiota on inflammation, obesity, and metabolic disease [PDF]

, 2016
The human gut harbors more than 100 trillion microbial cells, which have an essential role in human metabolic regulation via their symbiotic interactions with the host.
Boulangé, CL, Chilloux, J, Dumas, ME, Neves, AL, Nicholson, JK   +4 more
core   +1 more source

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Journal of Medical Genetics, 2015
Background Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype. Subjects and methods Sixty-nine
S. Azzi, J. Salem, N. Thibaud, S. Chantot-Bastaraud, E. Lieber, I. Netchine, M. Harbison   +6 more
semanticscholar   +1 more source

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.

European Journal of Medical Genetics, 2022
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. Despite normal intellectual functioning, psychosocial and behavioral difficulties have been observed in this syndrome.
Mélissa Burgevin, A. Lacroix, Karine Bourdet, R. Coutant, B. Donadille, L. Faivre, S. Manouvrier-Hanu, F. Petit, C. Thauvin-Robinet, A. Toutain, I. Netchine, S. Odent   +11 more
semanticscholar   +1 more source