Results 1 to 10 of about 17,476 (162)

Silver-Russell syndrome: phenotype features and oral health status [PDF]

Orphanet Journal of Rare Diseases
Background Silver-Russell Syndrome is a rare malformation syndrome with a variable clinical and genetic presentation. Its incidence is estimated at 1:70.000–1:100.000 births.
Paula Piekoszewska-Ziętek, Aneta Witt-Porczyk, Krystyna Chrzanowska, Małgorzata Zadurska, Dorota Olczak Kowalczyk   +4 more
doaj   +3 more sources

Functional Independence of Taiwanese Children with Silver–Russell Syndrome [PDF]

Diagnostics
Background: Silver–Russell syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine growth restriction, postnatal short stature ...
Hung-Hsiang Fang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Yen-Yin Chou, Chung-Hsing Wang, Shio-Jean Lin, Shao-Yin Chu, Chen Yang, Tsung-Ying Ou, Hsiang-Yu Lin, Shuan-Pei Lin   +15 more
doaj   +3 more sources

Executive functioning in adolescents and adults with Silver-Russell syndrome. [PDF]

PLoS ONE, 2023
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome ...
Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent   +12 more
doaj   +3 more sources

Investigation of methylation profiles in Silver–Russell syndrome to explore episignatures [PDF]

Clinical Epigenetics
Background Episignatures are disease-specific, genome-wide DNA methylation patterns identified in more than 100 genetic syndromes caused by mutation of genes related to epigenetic modifiers.
Kaori Hara-Isono, Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Keiko Matsubara, Maki Fukami, Tsutomu Ogata, Tomoko Kawai, Masayo Kagami   +9 more
doaj   +3 more sources

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome? [PDF]

Molecular Cytogenetics
Background Silver–Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms.
Asmaa K. Amin, Jeremias Krause, Thomas Eggermann   +2 more
doaj   +3 more sources

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome [PDF]

Human Genome Variation, 2022
We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat).
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara   +8 more
doaj   +3 more sources

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome [PDF]

JCI Insight
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear.
Avinaash V. Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G. Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S. Brooks, Gabriel Amador Aguirre, Irene Martín del Estal, María Inmaculada Castilla de Cortázar Larrea, Ahmed Massoud, Hermine A. van Duyvenvoorde, Christiaan De Bruin, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L. Storr   +19 more
doaj   +3 more sources

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review [PDF]

Clinical Epigenetics
Silver–Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of HMGA2 (NM_003483.6:c.138_141delinsCT, p ...
Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata   +4 more
doaj   +3 more sources

Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome [PDF]

Eur J Pediatr, 2023
Genetic syndromes often show facial features that provide clues for the diagnosis. However, memorizing these features is a challenging task for clinicians.
Silvia Ciancia, W. Goedegebuure, L. Grootjen, A. Hokken-Koelega, G. Kerkhof, D. C. van der Kaay   +5 more
semanticscholar   +2 more sources

Colorectal cancer in a man with silver-Russell syndrome: a case report [PDF]

Oxf Med Case Reports
Silver-Russell syndrome (SRS), also known as Russell-Silver syndrome (RSS), is a congenital growth disorder characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, asymmetry, and other distinctive features.
Farah Ibraik, Ibraheem Hammouri, Hassan Arafat, Ahmad G Hammouri, Hanna Qahoush   +4 more
semanticscholar   +2 more sources