Results 61 to 70 of about 10,203 (190)

The genetic aetiology of Silver–Russell syndrome [PDF]

Journal of Medical Genetics, 2007
Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to numerous diagnostic features reflecting a heterogeneous genetic disorder.
S, Abu-Amero, D, Monk, J, Frost, M, Preece, P, Stanier, G E, Moore   +5 more
openaire   +2 more sources

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome

, 2017
Silver–Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead ...
Hiroyuki Moriuchi, Fukami, Maki, Kei Izumi, Watanabe, Satoshi, Kondoh, Tatsuro, Tatsuro Kondoh, Nakatomi, Akiko, Dateki, Sumito, Akiko Nakatomi, Matsubara, Keiko, Keiko Matsubara, Masayo Kagami, Kagami, Masayo, Izumi, Kei, Sumito Dateki, Satoshi Watanabe, Moriuchi, Hiroyuki, Maki Fukami   +17 more
core   +1 more source

Silver-Russell Syndrome: A Case Report [PDF]

Cases Journal, 2008
A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood.
Kumar, Sunil, Jain, AP, Agrawal, Sachin, Chandran, Sindu   +3 more
openaire   +2 more sources

DENTAL MANAGEMENT OF THE RUSSELL-SILVER SYNDROME: CASE REPORT [PDF]

, 2010
Russell-Silver syndrome is a genetic disorder characterized by intrauterine and/or postnatal growth restriction and typical facies. The clinical feature is various due to heterogeneous genetic characters.
김승혜, 이제호, 손흥규, 최형준   +3 more
core  

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

Applying Baculovirus Surface Display Technology for Influenza Cytokine Profiling, Serological Detection and Antiviral Screening

Microbial Biotechnology, Volume 19, Issue 6, June 2026.
By displaying the hemagglutinin (HA) or neuraminidase (NA) proteins of influenza viruses on the surface of baculoviruses and infected insect cells, a safe and flexible pseudovirus system capable of performing cytokine analysis, serological detection and antiviral drug screening is established.
Li‐Yun Cheng, Zheng Yu Phan, Chi‐Wei Wang, Ching‐Fen Shen, Ping‐Chung Kuo, Hao‐Ze Li, Yu‐Chan Chao, Chih‐Hsuan Tsai   +7 more
wiley   +1 more source

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

BMC Medical Genomics, 2018
Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares   +7 more
doaj   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, Volume 109, Issue 6, Page 999-1006, June 2026.
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

Silver-Russell syndrome in Hong Kong [PDF]

Hong Kong Medical Journal, 2016
To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong.This retrospective case series was conducted at two tertiary genetic clinics, the Clinical ...
Luk, HM, YEUNG, KS, Wong, WL, Chung, BHY, Tong, TMF, Lo, IFM   +5 more
openaire   +4 more sources

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source