Results 1 to 10 of about 5,420 (125)

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   +2 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   +2 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   +2 more sources

Silver–Russell syndrome associated with type‐I Chiari malformation. A case report [PDF]

Clinical Case Reports, 2023
Comprehensive medical evaluation is important for patients with SRS to identify associated medical conditions and provide timely interventions. Clinicians should remain vigilant for potential neurological manifestations in SRS patients.
Babar Naeem, Javeria Nasim, Tipu Sultan
doaj   +2 more sources

Congenital absence of the bilateral long heads of the biceps brachii tendons in a patient with Silver-Russell syndrome [PDF]

Radiology Case Reports, 2023
Agenesis of the long head of biceps tendon (LHBT) is a congenital anomaly not commonly reported in the literature, and bilateral absence of the LHBT is even more rare.
Nathan Markus, BS, Andrew B. Ross, MD, MPH, Teresa T. Martin-Carreras, MD   +2 more
doaj   +2 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   +2 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   +2 more sources

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion [PDF]

Scientific Reports
Silver-Russell syndrome (SRS, MIM#180860) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, feeding difficulties, and body asymmetry.
Alessandro Vimercati, Giuseppa Patti, Pierpaola Tannorella, Sara Guzzetti, Luciano Calzari, Lara Branca, Melissa Bellini, Lidia Larizza, Flavia Napoli, Anna Elsa Maria Allegri, Mohamad Maghnie, Silvia Russo   +11 more
doaj   +2 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   +2 more sources

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis [PDF]

Clinical Epigenetics
Context Silver-Russell syndrome (SRS) is a complex multisystem condition requiring timely diagnosis for appropriate management. A clinical diagnosis is made in individuals scoring ≥ 4 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria, with (epi)
Uttara Kurup, David B. N. Lim, Avinaash V. Maharaj, Miho Ishida, Justin H. Davies, Helen L. Storr   +5 more
doaj   +2 more sources