Results 71 to 80 of about 4,687 (160)

SILVER-RUSSELL SYNDROME IN COMBINATION WITH INFANTILE CEREBRAL PALSY: CLINICAL OBSERVATION

Медицина в Кузбассе
A case of combination a rare genetic pathology – Silver-Russell syndrome – with cerebral palsy in three-year-old child is described. The cause of this syndrome is loss of chromosome’s 11p15 (11p15LOM) methylation, maternal uni-parental disomy of ...
Нина Геннадьевна Коновалова, Оксана Евгеньевна Жарская, Ольга Александровна Загородникова, Елена Алексеевна Полукарова   +3 more
doaj  

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

Clinical Epigenetics, 2018
Background Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region (H19/IGF2:IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS).
Angela Sparago, Flavia Cerrato, Andrea Riccio   +2 more
doaj   +1 more source

Limb lengthening in children with Russell–Silver syndrome: A comparison to other etiologies

Journal of Children's Orthopaedics, 2013
Introduction/background Russell–Silver syndrome (RSS) is the combination of intrauterine growth retardation, difficulty feeding, and postnatal growth retardation. Leg length discrepancy (LLD) is one of four major diagnostic criteria of RSS and is present
V. Goldman, T. H. McCoy, M. D. Harbison, A. T. Fragomen, S. R. Rozbruch   +4 more
doaj   +1 more source

Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

BMC Pediatrics
Background Imprinted genes, characterized by monoallelic expressions (either maternal or paternal), they are crucial for normal growth and development. Disruption of their monoallelic expressions leads to imprinting disorders (ImpDis).
Amal M. Mohamed, Ola Eid, Marwa Farid, Engy Ashaat, Ghada M. H. Abdel-Salam, Hala T. El-Bassyouni, Mahmoud Essa, Rana Mahrous, Peter S. F. Erian, Khaled M. Refaat, Alaaeldin Fayez, Maha Zaki   +11 more
doaj   +1 more source

[The Silver-Russell syndrome].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1994
The authors describe a case of Silver-Russell Syndrome with severe deficit growth. They display the major and minor features of the syndrome, and discuss about the possible pathogenetic causes.
B, Spano, F, Cossu, R, Oggiano, M G, Olzai, A, Balata   +4 more
openaire   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Hygienic behaviors and use of dental care in patients with genetic syndromes

Scientific Reports
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases.
Paula Piekoszewska-Ziętek, Aneta Witt-Porczyk, Anna Turska-Szybka, Dorota Olczak-Kowalczyk   +3 more
doaj   +1 more source

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

Journal of Pediatrics Review, 2019
Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth deficiency that persist throughout life.
Rahim Vakili, Somayyeh Hashemian
doaj  

Russell–Silver syndrome presenting with ambiguous genitalia

Journal of the Formosan Medical Association, 2017
I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee   +3 more
doaj   +1 more source