Works matching DE "ROBERTS syndrome"

Results: 16

Antenatal three-dimensional sonographic features of Roberts syndrome.

Published in:

2011

By:

Dulnuan, Daisy;
Matsuoka, Megumi;
Uketa, Emiko;
Hayashi, Keiji;
Murotsuki, Jun;
Nishimura, Gen;
Hata, Toshiyuki;
Dulnuan, Daisy J

Publication type:

journal article

Roberts-SC Fokomeli Sendromu: Olgu Sunumu.

Published in:

2012

By:

Karaman, Ali;
Kahveci, Hasan

Publication type:

Case Study

A Case of Norman-Roberts Syndrome Identified from Postnatal Diagnosis of Microlissencephaly.

Published in:

Fetal & Pediatric Pathology, 2015, v. 34, n. 3, p. 197, doi. 10.3109/15513815.2015.1031414

By:

Tosello, Barthélémy;
Brévaut-Malaty, Véronique;
Chaumoître, Kathia;
Gire, Catherine

Publication type:

Article

Roberts-SC syndrome, a rare syndrome and cleft palate repair.

Published in:

Indian Journal of Plastic Surgery, 2008, v. 41, n. 2, p. 222, doi. 10.4103/0970-0358.44939

By:

Murthy, Jyotsna;
Dewan, Madhu;
Hussain, Altaf

Publication type:

Article

Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature.

Published in:

Experimental & Therapeutic Medicine, 2018, v. 15, n. 2, p. 1702, doi. 10.3892/etm.2017.5592

By:

Zhou, Jing;
Yang, Xiaonan;
Jin, Xiaolei;
Jia, Zhenhua;
Lu, Haibin;
Qi, Zuoliang

Publication type:

Article

Cohesinopathies of a Feather Flock Together.

Published in:

PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004036

By:

Skibbens, Robert V.;
Colquhoun, Jennifer M.;
Green, Megan J.;
Molnar, Cody A.;
Sin, Danielle N.;
Sullivan, Brian J.;
Tanzosh, Eden E.

Publication type:

Article

Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.

Published in:

2010

By:

Ragavan, M.;
Reddy, Sarweswar;
Kumar, Chandramohan

Publication type:

journal article

The non-redundant function of cohesin acetyltransferase Esco2.

Published in:

Nucleus (1949-1034), 2012, v. 3, n. 4, p. 1, doi. 10.4161/nucl.20440

By:

Whelan, Gabriela;
Kreidl, Emanuel;
Peters, Jan-Michael;
Eichele, Gregor

Publication type:

Article

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Published in:

Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6

By:

Dupont, Celine;
Bucourt, Martine;
Guimiot, Fabien;
Kraoua, Lilia;
Smiljkovski, Daniel;
Le Tessier, Dominique;
Lebugle, Camille;
Gerard, Benedicte;
Spaggiari, Emmanuel;
Bourdoncle, Pierre;
Tabet, Anne-Claude;
Benzacken, Brigitte;
Dupont, Jean-Michel

Publication type:

Article

ROBERTS-SC PHOCOMELIA SYNDROME: SPONTANEOUS OCCURRENCE IN NON THALIDOMIDE ERA: A RARE CASE WITH THE REVIEW OF LITERATURE AND MANAGEMENT ISSUES.

Published in:

2013

By:

Poojan Dogra Marwaha;
Mahajan, Hemender;
Minhas, Santosh

Publication type:

Case Study

FROM THE EDITOR'S DESK.

Published in:

Indian Obstetrics & Gynaecology, 2013, v. 3, n. 3, p. 5

By:

Sharma, J. B.

Publication type:

Article

A Zebrafish Model of Roberts Syndrome Reveals That Esco2 Depletion Interferes with Development by Disrupting the Cell Cycle.

Published in:

PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020051

By:

Mönnich, Maren;
Kuriger, Zoë;
Print, Cristin G.;
Horsfield, Julia A.

Publication type:

Article

The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2.

Published in:

PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0006936

By:

van der Lelij, Petra;
Godthelp, Barbara C.;
van Zon, Wouter;
van Gosliga, Djoke;
Oostra, Anneke B.;
Steltenpool, Jûrgen;
de Groot, Jan;
Scheper, Rik J.;
Wolthuis, Rob M.;
Waisfisz, Quinten;
Darroudi, Firouz;
Joenje, Hans;
de Winter, Johan P.

Publication type:

Article

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Published in:

Nature Genetics, 2005, v. 37, n. 5, p. 468, doi. 10.1038/ng1548

By:

Vega, Hugo;
Waisfisz, Quinten;
Gordillo, Miriam;
Sakai, Norio;
Yanagihara, Itaru;
Yamada, Minoru;
Gosliga, Djoke van;
Kayserili, Hülya;
Xu, Chengzhe;
Ozono, Keiichi;
Jabs, Ethylin Wang;
Inui, Koji;
Joenje, Hans

Publication type:

Article

Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.

Published in:

BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-015-2354-y

By:

Baoshan Xu;
Gogol, Madelaine;
Gaudenz, Karin;
Gerton, Jennifer L.

Publication type:

Article

Shoulder joint replacement can improve quality of life and outcome in patients with dysmelia: a case series.

Published in:

2016

By:

Merkle, Tobias Peter;
Beckmann, Nicholas;
Bruckner, Tom;
Zeifang, Felix

Publication type:

journal article