Results 21 to 30 of about 1,914,079 (156)

Atrial septal defect and patent ductus arteriosus closure in an 8‐month‐old patient with Silver‐Russell syndrome

Clinical Case Reports, 2021
We present a case of an 8‐month‐old boy with Silver‐Russell syndrome who had high pulmonary vascular resistance, atrial septal defect, and patent ductus arteriosus. He underwent cardiac surgery using cardiopulmonary bypass without any complications.
Ryoma Oda, Keisuke Nakanishi, Shiori Kawasaki, Atsushi Amano   +3 more
doaj   +1 more source

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

Italian Journal of Pediatrics, 2020
Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life,
Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione   +6 more
doaj   +1 more source

Silver Russell syndrome [PDF]

, 2009
Review on Silver Russell syndrome, with data on clinics, and the genes ...
Kannenberg, Kai, Piccione, M, Thomas Eggermann, Corsello, G, Eggermann, Thomas, Matthias Begemann, Gerhard Binder, Begemann, Matthias, Binder, Gerhard, Kai Kannenberg   +9 more
core   +1 more source

Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome [PDF]

, 2020
Silver-Russell syndrome is a rare genetic imprinting disorder. Two molecular causes of Silver-Russell syndrome have been identified: loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 (matUPD7).
Robinson, Louisa, Freeth, Megan, Lane, Chloe   +2 more
core   +4 more sources

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

Molecular Cytogenetics, 2021
Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3).
Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin   +7 more
doaj   +1 more source

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

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   +1 more source

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

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   +1 more source

A Case Report of Silver-Russell Syndrome in Iran

Journal of Dental School, 2020
Objectives Silver-Russell syndrome (SRS) is a rare genetic disorder which is typically characterized by prenatal and postnatal growth failure and asymmetry in the size of the two halves or other parts of the body.
Arezoo Mahdian, Shiva Safari, Nazanin Sanagoo   +2 more
doaj   +1 more source

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

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   +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