Works matching DE "SILVER-Russell syndrome"

Results: 81

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

THE DEGREE OF H19 HYPOMETHYLATION IN CHILDREN WITH SILVER-RUSSEL SYNDROME (SRS) IS NOT ASSOCIATED WITH THE SEVERITY OF PHENOTYPE AND THE CLINICAL SEVERITY SCORE (CSS).

Published in:

Contributions of Macedonian Academy of Sciences & Arts, 2013, v. 34, n. 2, p. 79

By:

Gucev, Zoran S.;
Saranac, Ljiljana;
Jancevska, Aleksandra;
Tasic, Velibor

Publication type:

Article

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.

Published in:

2021

By:

Tomoko Fuke;
Akie Nakamura;
Takanobu Inoue;
Sayaka Kawashima;
Kaori Isono Hara;
Keiko Matsubara;
Shinichiro Sano;
Kazuki Yamazawa;
Maki Fukami;
Tsutomu Ogata;
Masayo Kagami;
Fuke, Tomoko;
Nakamura, Akie;
Inoue, Takanobu;
Kawashima, Sayaka;
Hara, Kaori Isono;
Matsubara, Keiko;
Sano, Shinichiro;
Yamazawa, Kazuki;
Fukami, Maki

Publication type:

journal article

Development of the QoLISSY 0–4 questionnaire: a health-related quality of life tool for young children with short stature.

Published in:

Journal of Patient-Reported Outcomes, 2025, v. 9, n. 1, p. 1, doi. 10.1186/s41687-025-00925-x

By:

Adedeji, Adekunle;
Witt, Stefanie;
Quitmann, Julia

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

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

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Published in:

Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8

By:

Russo, Silvia;
Calzari, Luciano;
Mainini, Ester;
Guzzetti, Sara;
Finelli, Palma;
Larizza, Lidia;
Calcagno, Annalisa;
Maghnie, Mohamad;
Divizia, Maria Teresa;
Melis, Daniela;
Manfredini, Emanuela;
Pecile, Vanna;
Mussa, Alessandro;
Battista Ferrero, Giovanni;
Cassina, Matteo;
Clementi, Maurizio;
Di Candia, Stefania;
Tabano, Silvia;
Miozzo, Monica;
Sirchia, Silvia

Publication type:

Article

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 4, p. 475, doi. 10.4274/jcrpe.galenos.2022.2022-9-19

By:

Yordanova, Nikolinka;
Iotova, Violeta;
Mackay, Deborah J. G.;
Temple, I. Karen;
Stoyanova, Sara;
Hachmeriyan, Mari

Publication type:

Article

Syndromic Disorders with Short Stature.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 1, p. 1, doi. 10.4274/Jcrpe.1149

By:

Şıklar, Zeynep;
Berberoğlu, Merih

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

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

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.

Published in:

Journal of Molecular Medicine, 2014, v. 92, n. 7, p. 769, doi. 10.1007/s00109-014-1141-6

By:

Eggermann, Thomas;
Heilsberg, Ann-Kathrin;
Bens, Susanne;
Siebert, Reiner;
Beygo, Jasmin;
Buiting, Karin;
Begemann, Matthias;
Soellner, Lukas

Publication type:

Article

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X

By:

Mackay, Deborah J.G.;
Bliek, Jet;
Lombardi, Maria Paola;
Russo, Silvia;
Calzari, Luciano;
Guzzetti, Sara;
Izzi, Claudia;
Selicorni, Angelo;
Melis, Daniela;
Temple, Karen;
Maher, Eamonn;
Brioude, Frédéric;
Netchine, Irène;
Eggermann, Thomas

Publication type:

Article

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Published in:

Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0629-x

By:

Kraft, Florian;
Wesseler, Katharina;
Begemann, Matthias;
Kurth, Ingo;
Elbracht, Miriam;
Eggermann, Thomas

Publication type:

Article

Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso.

Published in:

Revista da Sociedade Brasileira de Fonoaudiologia, 2012, v. 17, n. 1, p. 101, doi. 10.1590/s1516-80342012000100018

By:

Garcia, Patrícia Fernandes;
Salvador, Karina Krähembühl;
de Moraes, Tâmyne Ferreira Duarte;
Feniman, Mariza Ribeiro;
de Abreu Pinheiro Crenitte, Patrícia

Publication type:

Article

Attention deficit hyperactivity disorder and specific learning disability co-occurring in a case with Silver-Russell syndrome.

Published in:

Marmara Medical Journal, 2024, v. 37, n. 3, p. 384, doi. 10.5472/marumj.1572553

By:

DENIZ VAROL, Nagehan;
GURBUZ OZGUR, Borte;
ANIK, Ahmet;
AKSU, Hatice

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

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

Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA?

Published in:

2016

By:

Smeets, C C J;
Zandwijken, G R J;
Renes, J S;
Hokken-Koelega, A C S

Publication type:

journal 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

EP14.39: Should we consider prenatal diagnosis of Silver-Russell syndrome?

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 325, doi. 10.1002/uog.18555

By:

Minsart, A.;
Wavrant, S.;
Mathe, M.;
Morin, L.;
Rypens, F.;
Delrue, M.

Publication type:

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

Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion.

Published in:

Case Reports in Urology, 2016, p. 1, doi. 10.1155/2016/6017636

By:

Funada, Satoshi;
Ikeuchi, Ryosuke;
Yoshida, Toru;
Segawa, Takehiko

Publication type:

Article

MISCELLANEOUS.

Published in:: 2017
Publication type:: Abstract

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

HORMONE RESEARCH IN PÆDIATRICS.

Published in:: 2018
Publication type:: Abstract

The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.

Published in:

Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 201, doi. 10.1159/000477666

By:

Binder, Gerhard;
Eggermann, Thomas;
Weber, Karin;
Ferrand, Nawfel;
Schweizer, Roland

Publication type:

Article

Adult Height and Epigenotype in Children with Silver-Russell Syndrome Treated with GH.

Published in:

Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 193, doi. 10.1159/000354658

By:

Binder, G.;
Liebl, M.;
Woelfle, J.;
Eggermann, T.;
Blumenstock, G.;
Schweizer, R.

Publication type:

Article

The Genetics of 3-M Syndrome: Unravelling a Potential New Regulatory Growth Pathway.

Published in:

Hormone Research in Paediatrics, 2011, v. 76, n. 6, p. 369, doi. 10.1159/000334392

By:

Hanson, Dan;
Murray, Philip G.;
Black, Graeme C.M.;
Clayton, Peter E.

Publication type:

Article

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.

Published in:

2015

By:

Abraham, Mary B;
Carpenter, Karen;
Baynam, Gareth S;
Mackay, Deborah JG;
Price, Glynis;
Choong, Catherine S

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

Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.

Published in:

Molecular Biology Reports, 2013, v. 40, n. 1, p. 263, doi. 10.1007/s11033-012-2057-2

By:

Lukova, Mihaela;
Todorova, Albena;
Todorov, Tihomir;
Mitev, Vanyo

Publication type:

Article

Anesthetic Management of a Pediatric Patient with Russell-Silver Syndrome.

Published in:

International Student Journal of Nurse Anesthesia, 2023, v. 22, n. 2, p. 6

By:

Houlihan, Ryan

Publication type:

Article

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

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

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166

By:

Poole, Rebecca L;
Leith, Donald J;
Docherty, Louise E;
Shmela, Mansur E;
Gicquel, Christine;
Splitt, Miranda;
Temple, I Karen;
Mackay, Deborah J G

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

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

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

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00866-9

By:

Mercadante, Francesca;
Busè, Martina;
Salzano, Emanuela;
Fragapane, Tiziana;
Palazzo, Daniela;
Malacarne, Michela;
Piccione, Maria

Publication type:

Article

Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome.

Published in:

2018

By:

Lemoine, Anaïs;
Harbison, Madeleine D.;
Salem, Jennifer;
Tounian, Patrick;
Netchine, Irène;
Dubern, Béatrice

Publication type:

journal article

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

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