Works matching DE "SILVER-Russell syndrome"

Results: 81

Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome.

Published in:

2020

By:

Lane, Chloe;
Robinson, Louisa;
Freeth, Megan

Publication type:

Journal Article

Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 943, doi. 10.1007/s10815-018-1173-x

By:

Cortessis, Victoria K.;
Azadian, Moosa;
Buxbaum, James;
Sanogo, Fatimata;
Song, Ashley Y.;
Sriprasert, Intira;
Wei, Pengxiao C.;
Yu, Jing;
Chung, Karine;
Siegmund, Kimberly D.

Publication type:

Article

Role of DNA methylation in imprinting disorders: an updated review.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5

By:

Elhamamsy, Amr

Publication type:

Article

Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.

Published in:

2023

By:

Shpiner, Danielle S.;
Peabody, Taylor K.;
Luca, Corneliu C.;
Jagid, Jonathan;
Moore, Henry

Publication type:

Case Study

Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1

By:

Jiasun Su;
Jin Wang;
Xin Fan;
Chunyun Fu;
ShuJie Zhang;
Yue Zhang;
Zailong Qin;
Hongdou Li;
Jingsi Luo;
Chuan Li;
Tingting Jiang;
Yiping Shen

Publication type:

Article

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1

By:

Chantot-Bastaraud, Sandra;
Stratmann, Svea;
Brioude, Frédéric;
Begemann, Matthias;
Elbracht, Miriam;
Graul-Neumann, Luitgard;
Harbison, Madeleine;
Netchine, Irène;
Eggermann, Thomas

Publication type:

Article

Genetic Polymorphism as a Possible Cause of Severe Postoperative Pain.

Published in:

Journal of Clinical Pharmacology, 2024, v. 64, n. 3, p. 378, doi. 10.1002/jcph.2367

By:

Govers, Bart;
Matic, Maja;
van Schaik, Ron H. N.;
Klimek, Markus

Publication type:

Article

Silver-Russell syndrome. Part II.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2015, v. 21, n. 3, p. 132, doi. 10.18544/PEDM-21.03.0035

By:

Kalina, Maria A.;
Tańska, Anna;
Marczak-Hałupka, Anna;
Chrzanowska, Krystyna H.

Publication type:

Article

Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2014, v. 20, n. 3, p. 102, doi. 10.18544/pedm-20.03.0009

By:

Marczak-Hałupka, Anna;
Kalina, Maria A.;
Tańska, Anna;
Chrzanowska, Krystyna H.

Publication type:

Article

Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.

Published in:

Clinical Case Reports, 2017, v. 5, n. 10, p. 1697, doi. 10.1002/ccr3.1061

By:

Gerbrands, Lonneke C.;
Haarman, Eric G.;
Hankel, Margot A.;
Finken, Martijn J. J.

Publication type:

Article

Clinical spectrum of Silver - Russell syndrome.

Published in:

2013

By:

SAPNA N. K. VARMA;
BALAGOPAL R. VARMA

Publication type:

Case Study

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060105

By:

Fuke, Tomoko;
Mizuno, Seiji;
Nagai, Toshiro;
Hasegawa, Tomonobu;
Horikawa, Reiko;
Miyoshi, Yoko;
Muroya, Koji;
Kondoh, Tatsuro;
Numakura, Chikahiko;
Sato, Seiji;
Nakabayashi, Kazuhiko;
Tayama, Chiharu;
Hata, Kenichiro;
Sano, Shinichiro;
Matsubara, Keiko;
Kagami, Masayo;
Yamazawa, Kazuki;
Ogata, Tsutomu

Publication type:

Article

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

Published in:

BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0441-z

By:

Vado, Yerai;
Errea-Dorronsoro, Javier;
Llano-Rivas, Isabel;
Gorria, Nerea;
Pereda, Arrate;
Gener, Blanca;
Garcia-Naveda, Laura;
Perez de Nanclares, Guiomar

Publication type:

Article

Orthodontic Treatment in Conjunction with Twin-bock Treatment and Growth Hormone Therapy in Silver Russell Syndrome.

Published in:

2017

By:

Ko, Su-Jin;
Seo, Ji Young;
Kwon, Yong-Dae;
Cheon, Kyounga;
Park, Jae Hyun

Publication type:

journal article

Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.

Published in:

Current Pediatric Reviews, 2023, v. 19, n. 2, p. 157, doi. 10.2174/1573396318666220315142542

By:

Singh, Amit;
Pajni, Ketan;
Panigrahi, Inusha;
Khetarpal, Preeti

Publication type:

Article

Imprinting disorders in children born after ART: a Nordic study from the CoNARTaS group.

Published in:

2020

By:

Henningsen, A A;
Gissler, M;
Rasmussen, S;
Opdahl, S;
Wennerholm, U B;
Spangsmose, A L;
Tiitinen, A;
Bergh, C;
Romundstad, L B;
Laivuori, H;
Forman, J L;
Pinborg, A;
Lidegaard, Ø

Publication type:

journal article

Gonadal function and pubertal development in patients with Silver-Russell syndrome.

Published in:

2018

By:

Goedegebuure, W J;
Smeets, C C J;
Renes, J S;
Rijke, Y B de;
Hokken-Koelega, A C S;
de Rijke, Y B

Publication type:

journal article

De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient.

Published in:

2017

By:

Deguo Liu;
Yajian Wang;
Xiu-An Yang;
Deyun Liu

Publication type:

Case Study

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 287, doi. 10.1038/jhg.2015.29

By:

De Crescenzo, Agostina;
Citro, Valentina;
Freschi, Andrea;
Sparago, Angela;
Palumbo, Orazio;
Cubellis, Maria Vittoria;
Carella, Massimo;
Castelluccio, Pia;
Cavaliere, Maria Luigia;
Cerrato, Flavia;
Riccio, Andrea

Publication type:

Article

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 2, p. 91, doi. 10.1038/jhg.2014.100

By:

Nakashima, Shinichi;
Kato, Fumiko;
Kosho, Tomoki;
Nagasaki, Keisuke;
Kikuchi, Toru;
Kagami, Masayo;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67

By:

Lee, Beom Hee;
Kim, Gu-Hwan;
Oh, Tae Jeong;
Kim, Joo Hyun;
Lee, Jin-Joo;
Choi, Seung Hoon;
Lee, Joo Yeon;
Kim, Jae-Min;
Choi, In Hee;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report.

Published in:

Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/109416

By:

Javadzadeh, Mohsen;
Saneifard, Hedieh;
Hosseini, Amir Hossein

Publication type:

Article

Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

Published in:

2016

By:

Segal, Nancy L.

Publication type:

journal article

MISCELLANEOUS.

Published in:: 2017
Publication type:: Abstract

A rare case of Silver--Russell syndrome associated with growth hormone deiciency and urogenital abnormalities.

Published in:

Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S307, doi. 10.4103/2230-8210.104070

By:

Prasad, Namburi Rajendra;
Reddy, Ponnala Amaresh;
Karthik, T. S.;
Chakravarthy, Mithun;
Ahmed, Faizal

Publication type:

Article

Russell Silver syndrome: A perspective on growth and the influence of growth hormone therapy.

Published in:

2012

By:

V., Mascarenhas J.;
Ayyar, Vageesh S.

Publication type:

Case Study

The clinical and molecular genetic study of 20 Silver Russell Syndrome cases.

Published in:

2013

By:

Chunxiu Gong;
Ming-Qiang Zhu;
Di Wu;
Bingyan Cao

Publication type:

Abstract

Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.

Published in:

2013

By:

Kim, Yoo-Mi;
Kim, Gu-Hwan;
Lee, Beom Hee;
Lee, jin-Joo;
Choi, Seong-Hoon;
Lee, Ju Yeon;
Yoo, Han-Wook

Publication type:

Abstract

upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 902, doi. 10.1111/cge.13727

By:

Hjortshøj, Tina D.;
Sørensen, Anna R.;
Yusibova, Melodi;
Hansen, Bo M.;
Dunø, Morten;
Balslev‐Harder, Marie;
Grønskov, Karen;
Hagen, Johanna M.;
Polstra, Abeltje M.;
Eggermann, Thomas;
Finken, Martijn J.J.;
Tümer, Zeynep

Publication type:

Article

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome.

Published in:

2019

By:

Midro, Alina T.;
Panasiuk, Barbara;
Skowroński, Rafał;
Tommerup, Niels;
Mehrjouy, Manna M.;
Borys, Jan;
Kosztyła‐Hojna, Bożena;
Zalewska, Renata;
Konstantynowicz, Jerzy;
Łebkowska, Urszula;
Cooper, Lance;
Stankiewicz, Paweł;
Liu, Qian;
Scherer, Steven E.

Publication type:

Case Study

NSD1 duplication in Silver-Russell syndrome ( SRS): molecular karyotyping in patients with SRS features.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 73, doi. 10.1111/cge.12803

By:

Sachwitz, J.;
Meyer, R.;
Fekete, G.;
Spranger, S.;
Matulevičienė, A.;
Kučinskas, V.;
Bach, A.;
Luczay, A.;
Brüchle, N.O.;
Eggermann, K.;
Zerres, K.;
Elbracht, M.;
Eggermann, T.

Publication type:

Article

Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 399, doi. 10.1111/cge.12186

By:

Eggermann, T.;
Schneider‐Rätzke, B.;
Begemann, M.;
Spengler, S.

Publication type:

Article

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 368, doi. 10.1111/cge.12075

By:

Sheridan, MB;
Bytyci Telegrafi, A;
Stinnett, V;
Umeh, CC;
Mari, Z;
Dawson, TM;
Bodurtha, J;
Batista, DAS

Publication type:

Article

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Published in:

Clinical Genetics, 2013, v. 84, n. 4, p. 326, doi. 10.1111/cge.12143

By:

Jacob, KJ;
Robinson, WP;
Lefebvre, L

Publication type:

Article

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

Published in:

Clinical Genetics, 2012, v. 82, n. 5, p. 494, doi. 10.1111/j.1399-0004.2011.01792.x

By:

Behnecke, A;
Hinderhofer, K;
Jauch, A;
Janssen, JWG;
Moog, U

Publication type:

Article

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Published in:

Clinical Genetics, 2012, v. 81, n. 4, p. 350, doi. 10.1111/j.1399-0004.2011.01822.x

By:

Demars, J;
Gicquel, C

Publication type:

Article

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/ H19 in Silver-Russell syndrome.

Published in:

Clinical Genetics, 2012, v. 81, n. 4, p. 366, doi. 10.1111/j.1399-0004.2012.01844.x

By:

Kannenberg, K;
Urban, C;
Binder, G

Publication type:

Article

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.

Published in:

Clinical Genetics, 2012, v. 81, n. 3, p. 298, doi. 10.1111/j.1399-0004.2011.01719.x

By:

Eggermann, T;
Spengler, S;
Begemann, M;
Binder, G;
Buiting, K;
Albrecht, B;
Spranger, S

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst.

Published in:

2012

By:

Abolila, Reda A.;
Alsawan, Rima M.;
Alrefaie, Mohamed T.

Publication type:

Case Study

Silver-Russell Syndrome: A Review.

Published in:

Neonatal Network, 2017, v. 36, n. 4, p. 206, doi. 10.1891/0730-0832.36.4.206

By:

Spiteri, Bernice Sophie;
Stafrace, Yanika;
Calleja-Agius, Jean

Publication type:

Article

Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy.

Published in:

2021

By:

Shin, Chang Ho;
Lim, Chaemoon;
Kim, Hwa Young;
Yoo, Won Joon;
Cho, Tae-Joon;
Choi, In Ho;
Ko, Jung Min

Publication type:

journal article

Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.

Published in:

European Journal of Endocrinology, 2015, v. 172, n. 2, p. 151, doi. 10.1530/EJE-14-0541

By:

Storr, Helen L.;
Dunkel, Leo;
Kowalczyk, Julia;
Savage, Martin O.;
Metherell, Louise A.

Publication type:

Article

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.

Published in:

European Journal of Endocrinology, 2012, v. 166, n. 3, p. 543, doi. 10.1530/EJE-11-0964

By:

Montenegro, Luciana R.;
Leal, Andrea C.;
Coutinho, Debora C.;
Valassi, Helena P. L.;
Nishi, Mirian Y.;
PArnhold, Ivo J.;
Mendonca, Berenice B.;
Jorge, Alexander A. L.

Publication type:

Article

Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.

Published in:

PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005916

By:

Van De Pette, Matthew;
Tunster, Simon J.;
McNamara, Grainne I.;
Shelkovnikova, Tatyana;
Millership, Steven;
Benson, Lindsay;
Peirson, Stuart;
Christian, Mark;
Vidal-Puig, Antonio;
John, Rosalind M.

Publication type:

Article

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Published in:

2016

By:

Haiming Yuan;
Linhuan Huang;
Xizi Hu;
Qian Li;
Xiaofang Sun;
Yingjun Xie;
Shu Kong;
Xiaoman Wang;
Yuan, Haiming;
Huang, Linhuan;
Hu, Xizi;
Li, Qian;
Sun, Xiaofang;
Xie, Yingjun;
Kong, Shu;
Wang, Xiaoman

Publication type:

journal article

Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum.

Published in:

American Journal of Clinical Pathology, 2014, v. 142, n. 2, p. 248, doi. 10.1309/AJCPBLMPRXKU1JUE

By:

Abdelhedi, Fatma;
El Khattabi, Laila;
Cuisset, Laurence;
Tsatsaris, Vassilis;
Viot, Geraldine;
Druart, Luc;
Lebbar, Aziza;
Dupont, Jean-Michel

Publication type:

Article

Russell--Silver syndrome associated with low conus medullaris.

Published in:

2016

By:

Gabor, Larisa;
Canaz, Huseyin;
Alatas, Ibrahim;
Bozkus, Hakan;
Canaz, Gokhan;
Kara, Nursu

Publication type:

Case Study

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65082-1

By:

Rovina, Davide;
La Vecchia, Marta;
Cortesi, Alice;
Fontana, Laura;
Pesant, Matthieu;
Maitz, Silvia;
Tabano, Silvia;
Bodega, Beatrice;
Miozzo, Monica;
Sirchia, Silvia M.

Publication type:

Article

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

Published in:

Clinical Epigenetics, 2018, v. 10, p. 1, doi. 10.1186/s13148-018-0454-7

By:

Sparago, Angela;
Cerrato, Flavia;
Riccio, Andrea

Publication type:

Article

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

Published in:

Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0350-6

By:

Takanobu Inoue;
Akie Nakamura;
Tomoko Fuke;
Kazuki Yamazawa;
Shinichiro Sano;
Keiko Matsubara;
Seiji Mizuno;
Yoshika Matsukura;
Chie Harashima;
Tatsuji Hasegawa;
Hisakazu Nakajima;
Kumi Tsumura6;
Zenro Kizaki;
Akira Oka;
Tsutomu Ogata;
Maki Fukami;
Masayo Kagami

Publication type:

Article