Works matching DE "SILVER-Russell syndrome"

Results: 80

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

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

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

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

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

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

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

Adrenarche in Silver-Russell Syndrome: Timing and Consequences.

Published in:

2017

By:

Binder, Gerhard;
Schweizer, Roland;
Blumenstock, Gunnar;
Ferrand, Nawfel

Publication type:

journal article

Genome-wide methylation analysis in Silver-Russell syndrome patients.

Published in:

Human Genetics, 2015, v. 134, n. 3, p. 317, doi. 10.1007/s00439-014-1526-1

By:

Prickett, A.;
Ishida, M.;
Böhm, S.;
Frost, J.;
Puszyk, W.;
Abu-Amero, S.;
Stanier, P.;
Schulz, R.;
Moore, G.;
Oakey, R.

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

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

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

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

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

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

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

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

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndromelike phenotypes.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0280-8

By:

Sachwitz, Jana;
Strobl-Wildemann, Getrud;
Fekete, György;
Ambrozaitytė, Laima;
Kučinskas, Vaidutis;
Soellner, Lukas;
Begemann, Matthias;
Eggermann, Thomas

Publication type:

Article

No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-67

By:

Murphy, Rinki;
Thompson, John M. D.;
Tost, Jörg;
Mitchell, Edwin A.

Publication type:

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

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

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

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

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

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

Clinical spectrum of Silver - Russell syndrome.

Published in:

2013

By:

SAPNA N. K. VARMA;
BALAGOPAL R. VARMA

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

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

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

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

A long way to syndromic short stature.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01737-3

By:

Gaudioso, Federica;
Meossi, Camilla;
Pezzani, Lidia;
Grilli, Federico;
Silipigni, Rosamaria;
Russo, Silvia;
Masciadri, Maura;
Vimercati, Alessandro;
Marchisio, Paola Giovanna;
Bedeschi, Maria Francesca;
Milani, Donatella

Publication type:

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

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

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

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

Silver-Russell syndrome in siblings with orthodontic management.

Published in:

Journal of Cleft Lip Palate & Craniofacial Anomalies, 2023, v. 10, n. 1, p. 31, doi. 10.4103/jclpca.jclpca_13_22

By:

Mendigeri, Vijaylaxmi;
Ramdurg, Praveen;
Lingadalli, Fatima Zohar;
Ganeshkar, Sanjay

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

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