Results 61 to 70 of about 58,220 (206)

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

Journal of Medical Genetics, 2021
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis is broad.
Ahmed S N Alhendi, D. Lim, S. McKee, M. McEntagart, K. Tatton-Brown, I. Temple, J. Davies, D. Mackay   +7 more
semanticscholar   +1 more source

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Molecular Cytogenetics, 2017
Background Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen   +11 more
doaj   +1 more source

Silver-Russell Syndrome

Sri Lanka Journal of Child Health, 2009
No abstract ...
Alexander K. C. Leung, Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Bennett Myers, David N. Herrmann, Vikram K. Mahajan, Nand Lal Sharma, Surender Kashyap, C. Ronald Scott, Natalie Gall, Katrin Welt, Karin Scharffetter-Kochanek, Matthew Harries, Tobias Fischer, Ralf Paus, Cornelius F. Boerkoel, Leah I. Elizondo, Thomas Lücke, Markus M. Nöthen, Marcella Rietschel, Undine E. Lang, Sophie Nicole, Bertrand Fontaine, Alexander K. C. Leung, William Lane M. Robson, Thomas Krieg, Julia Weihrauch, Sergio A. Jimenez, Hugo Ten Cate, Itshak Zusman, Pavel Gurevich, Herzl Ben-Hur, Jutta Keller, Jiri Litzman, Yaofeng Zhao, Lennart Hammarstöm, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Marie-Estelle Dupont, Olivier Guilbaud, Hermann-Josef Gröne, Zoran V. Popovic, Mario Mancini, Batya B. Davidovici, Batsheva Marcos, Edith Orion, Ronni Wolf, Jean-Louis Vincent, Giora Z. Feuerstein, James C. Keith, Robert R. Ruffolo, Cord Sunderkötter, M. Murat Naki, Cevahir Tekcan, M. Murat Naki, Cevahir Tekcan, Amy S. Rawls, Daniel C. Link, Carolina Reitzenstein, Jürgen Kopitz, Michael Cantz, Michael Cantz, Johannes Uhl, Jürgen Kopitz, John-John B. Schnog, Victor E. A. Gerdes, Bärbel Schütte, Samuel J. Arbes, Darryl C. Zeldin, Alessandra Baumer, Hans-Peter Zenner, Brandy J. Harvey, Jyh-Yeuan Lee, Ina L. Urbatsch, Jan Rémi, Soheyl Noachtar, Alexander K. C. Leung, Sarah H. Elsea, Santhosh Girirajan, Chee-Keong Toh, Cord Sunderkötter, Rebecca Schüle, Ludger Schöls, Niels Borregaard, Jack B. Cowland, John-John B. Schnog, Victor E. A. Gerdes, Alexander K. C. Leung, Laura E. Mitchell, Analee J. Etheredge, Denise S. Hill, Richard H. Finnell, Meinhard Schiller, Dorothee Nashan, Cord Sunderkötter, Stefan Reuter, David Geneviève, Valérie Cormier-Daire, Jozef Gécz, Ravi Savarirayan, Yves Le Loir, Michel Gautier, Cord Sunderkötter, Jean-Michel Rozet, Josseline Kaplan, Katarzyna Lukasiuk, Asla Pitkänen, Stephan Haas, Sören Siegmund, Manfred V. Singer, Henryk Dancygier, Mark Oette, Vicente Andrés, Rainer Wessely, Alexander K. C. Leung, Deborah P. Merke, Alexander K. C. Leung, Kam-Lun Ellis Hon, Jutta Engel, Hans-Michael Meinck, Amei Ludwig, Hartmut Hengel, John-John B. Schnog, Victor E. A. Gerdes, Giora Z. Feuerstein, Xinkang Wang, Ivor L. Gerber, Eric Sibley, Akihiro Takatsu, Brigitta Bondy, Daniel Markovich, Ting-Ting Huang, Charles J. Epstein, Hilmar Prange   +150 more
openaire   +3 more sources

SNP array typing provides new insights in chromosomal nondisjunction [PDF]

, 2017
Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS).
Begemann, Matthias, Brioude, Frederic, Chantot-Bastaraud, Sandra, Eggermann, Thomas, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irene, Stratmann, Svea   +8 more
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

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

The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family [PDF]

, 2015
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) enzymes are secreted, multi-domain matrix-associated zinc metalloendopeptidases that have diverse roles in tissue morphogenesis and patho-physiological remodeling, in ...
A Colige, A Didangelos, A Luque, A Moncada-Pazos, A Noel, A Tan Ide, AC Jonsson-Rylander, AC Nicholson, AJ Fosang, B Joe, BH Koo, BH Koo, BV Nusgens, C Casal, C Esselens, C Gendron, C Kintakas, C Lopez-Otin, C Ricciardelli, CB Kern, CG Viloria, CH Mjaatvedt, CJ Liu, CJ Liu, CL Jacobi, CM Dancevic, CN Brocker, CR Flannery, D Wagsater, DL Russell, DL Silver, DR Edwards, DR McCulloch, DT Jones, Dylan R Edwards, EA Lin, EC Arner, ED Karagiannis, EM Majerus, F Guo, F Vazquez, FG Brunet, FX Gomis-Ruth, FX Gomis-Ruth, G Gao, G Gao, G Hashimoto, G Murphy, GC Choi, GE Lind, GG Levy, GJ Wayne, Grant N Wheeler, H Enomoto, H Jin, H Stanton, H Stanton, HL Lung, HM Brown, I Abbaszade, I Peluso, Ines Desanlis, J Dubail, J Dubail, J Felsenstein, J Hofsteenge, J Huxley-Jones, J Huxley-Jones, J Morales, JA Pyun, JC Adams, JC Rodriguez-Manzaneque, JC Rodriguez-Manzaneque, JC Rodriguez-Manzaneque, JD Sandy, JM Longpre, K Demircan, K Fujikawa, K Gopalakrishnan, K Kuno, K Kuno, K Stankunas, K Tamura, K Yamamoto, K Yamamoto, L Angerer, L Faivre, L Mittaz, L Mosyak, L Troeberg, L Troeberg, L Troeberg, L Wagstaff, LA Collins-Racie, LE Dupuis, LM Ricketts, M Cudic, M Hour El, M Kashiwagi, M Krampert, M Llamazares, MA Aldahmesh, MD Tortorella, MN Vankemmelbeke, N Dagoneau, N Hattori, N Rocks, N Rocks, N Stupka, NH Lim, NV Lee, NV Lee, P Wang, PH Lo, PJ Koshy, PS Chockalingam, R Kelwick, RC Salter, RH Song, Richard Kelwick, RL Robker, RP Somerville, RP Somerville, RS Patel, S Abdul-Majeed, S Gerhardt, S Kumar, S Kumar, S Nandadasa, S Porter, S Porter, SS Apte, SS Glasson, T Fontanil, T Shindo, TN Wight, U Auf Dem Keller, W Du, W Zeng, WE Kutz, WM Wang, X Lu, X Pu, XL Zheng, YJ Liu, YP Hsu   +145 more
core   +1 more source

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

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