Works matching Robert syndrome

Results: 149

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

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

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

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

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

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

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

Roberts syndrome: antenatal ultrasound - a case report.

Published in:

Journal of Perinatal Medicine, 1988, v. 16, n. 1, p. 71

By:

Grundy, Howard O.;
Burlbaw, Jeanette;
Walton, Sheila;
Dannar, Carole

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

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 sendromu olgusu: Ultrasonografik özellikleri ve genetik tanısı.

Published in:

Perinatal Journal / Perinatoloji Dergisi, 2020, v. 28, n. 3, p. 212, doi. 10.2399/prn.20.0283009

By:

Ayaz, Reyhan;
Göktaş, Emine;
Balasar, Mine

Publication type:

Article

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2177

By:

He, Shuang;
Chen, Shuai;
Li, Shu‐Jian;
Zhang, Jie‐Wen;
Liang, Xin‐Liang

Publication type:

Article

Expanding the mutation and clinical spectrum of Roberts syndrome.

Published in:

Congenital Anomalies, 2016, v. 56, n. 4, p. 154, doi. 10.1111/cga.12151

By:

Afifi, Hanan H.;
Abdel-Salam, Ghada M.H.;
Eid, Maha M.;
Tosson, Angie M.S.;
Shousha, Wafaa Gh.;
Abdel Azeem, Amira A.;
Farag, Mona K.;
Mehrez, Mennat I.;
Gaber, Khaled R.

Publication type:

Article

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir.

Published in:

2016

By:

Malla, Tahir M.;
Pandith, Arshad A.;
Dar, Fayaz A.;
Zargar, Mahrukh H.

Publication type:

Case Study

CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 4, p. 501, doi. 10.26650/IUITFD.1130578

By:

ASLANGER, Ayça Dilruba;
KALAYCI, Tuğba;
KONUR, Esma Nur;
GÜLEÇ, Çağrı;
AVCI, Şahin;
ALTUNOĞLU, Umut;
KARAMAN, Volkan;
TOKSOY, Güven;
KARAMAN, Birsen;
BAŞARAN, Seher;
UYGUNER, Oya;
YEŞİL, Gözde

Publication type:

Article

Roberts syndrome with tetraphocomelia: A case report and literature review.

Published in:

2022

By:

Okpala, Boniface Chukwuneme;
Echendu, Sylvia Tochukwu;
Ikechebelu, Joseph Ifeanyichukwu;
Eleje, George Uchenna;
Joe-Ikechebelu, Ngozi Nneka;
Nwajiaku, Louis Anayo;
Nwachukwu, Cyril Emeka;
Igbodike, Emeka Philip;
Nnoruka, Mark Chinedu;
Okpala, Augusta Nkiruka;
Ofojebe, Chukwuemeka Jude;
Umeononihu, Osita Samuel

Publication type:

Case Study

Roberts syndrome with tetraphocomelia: A case report and literature review.

Published in:

2022

By:

Okpala, Boniface Chukwuneme;
Echendu, Sylvia Tochukwu;
Ikechebelu, Joseph Ifeanyichukwu;
Eleje, George Uchenna;
Joe-Ikechebelu, Ngozi Nneka;
Nwajiaku, Louis Anayo;
Nwachukwu, Cyril Emeka;
Igbodike, Emeka Philip;
Nnoruka, Mark Chinedu;
Okpala, Augusta Nkiruka;
Ofojebe, Chukwuemeka Jude;
Umeononihu, Osita Samuel

Publication type:

Case Study

A child with Roberts syndrome presenting severe craniofacial anomaly.

Published in:

Journal of Cleft Lip Palate & Craniofacial Anomalies, 2022, v. 9, n. 2, p. 177, doi. 10.4103/jclpca.jclpca_32_21

By:

Solano, Nicolas;
Sierralta, Maria;
Ramos, Salomon;
Sarcos, Betsabe

Publication type:

Article

Pseudo-Roberts Syndrome: An Entity or Not?

Published in:

2022

By:

Salari, Behzad;
Dehner, Louis P.

Publication type:

Case Study

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

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.

Published in:

BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01161-8

By:

Zhu, LiFen;
Cao, DingYa;
Chen, Min;
Zhang, Huimin;
Sun, XiaoFang;
Liu, WeiQiang

Publication type:

Article

Clinical Heterogeneity of Skeletal Dysplasia in Roberts Syndrome: A Review.

Published in:

Human Heredity, 1994, v. 44, n. 3, p. 121, doi. 10.1159/000154204

By:

Sinha, Ajoy K.;
Verma, Ram S.;
Mani, John

Publication type:

Article

Genetically induced redox stress occurs in a yeast model for Roberts syndrome.

Published in:

G3: Genes | Genomes | Genetics, 2022, v. 12, n. 2, p. 1, doi. 10.1093/g3journal/jkab426

By:

Mfarej, Michael G.;
Skibbens, Robert V.

Publication type:

Article

C-banding analysis of a newborn with clinical features of Roberts syndrome.

Published in:

Ulster Medical Journal, 2008, v. 77, n. 1, p. 72

By:

Fitzpatrick, Helen;
Lynch, Sally Ann;
Clarke, Gillian;
Doherty, Aidan

Publication type:

Article

PRENATAL ULTRASOUD DIAGNOSIS EXTREME RARE CASE OF ROBERTS SYNDROME (TETRA PHOCOMELIA), PSEUDOTHALIDOMID SYNDROMA EXCEPT CYTOGENETIC (PCS AND HR) AND MOLECULAR (ESCO2).

Published in:

Journal of Perinatal Medicine, 2017, v. 45, p. 260, doi. 10.1515/jpm-2017-3002

By:

Milenko, Kolarski;
Branko, Nedić;
Rajko, Stanišić

Publication type:

Article

Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management.

Published in:

1992

By:

Holden, Kenton R.;
Jabs, Ethylin Wang;
Sponseller, Paul D.;
Holden, K R;
Jabs, E W;
Sponseller, P D

Publication type:

journal article

PRENATAL DIAGNOSIS OF ROBERTS SYNDROME: TWO NEW CASES.

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 2, p. 125, doi. 10.1002/(SICI)1097-0223(199602)16:2<125::AID-PD822>3.0.CO;2-S

By:

BENZACKEN, B.;
SAVARY, J. B.;
MANOUVRIER, S.;
BUCOURT, M.;
GONZALES, J.

Publication type:

Article

First-trimester prenatal diagnosis of Roberts syndrome.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 2, p. 145, doi. 10.1002/pd.1970120211

By:

Stioui, S.;
Privitera, O.;
Brambati, B.;
Zuliani, G.;
Lalatta, F.;
Simoni, G.

Publication type:

Article

Roberts-SC phocomelia syndrome: a case report.

Published in:

2012

By:

Karaman, Ali;
Kahveci, Hasan

Publication type:

Journal Article

Stimulation of mTORC1 with L-leucine Rescues Defects Associated with Roberts Syndrome.

Published in:

PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003857

By:

Xu, Baoshan;
Lee, Kenneth K.;
Zhang, Lily;
Gerton, Jennifer L.

Publication type:

Article

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome.

Published in:

Anemia (20901267), 2010, p. 1, doi. 10.1155/2010/565268

By:

van der Lelij, Petra;
Oostra, Anneke B.;
Rooimans, Martin A.;
Joenje, Hans;
de Winter, Johan P.

Publication type:

Article

An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.

Published in:

2020

By:

Mfarej, Michael G.;
Skibbens, Robert V.

Publication type:

Literature Review

FROM THE EDITOR'S DESK.

Published in:

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

By:

Sharma, J. B.

Publication type:

Article

SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.

Published in:

2007

By:

Bukvic, Nenad;
Resta, Nicoletta;
Bukvic, Dragoslav;
Susca, Francesco C.;
Bagnulo, Rosanna;
Fanelli, Margherita;
Guanti, Ginevra

Publication type:

journal article

Norman-Roberts syndrome: prenatal diagnosis and autopsy findings.

Published in:

Prenatal Diagnosis, 2000, v. 20, n. 6, p. 505, doi. 10.1002/1097-0223(200006)20:6<505::AID-PD850>3.0.CO;2-#

By:

Sergi, Consolato;
Zoubaa, Saida;
Schiesser, Monika

Publication type:

Article

Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome.

Published in:

Prenatal Diagnosis, 1988, v. 8, n. 8, p. 565, doi. 10.1002/pd.1970080803

By:

Stanley, Wayne S.;
Pai, G. Shashidhar;
Horger, Edgar O.;
Yongshan, Yan;
McNeal, Karen S.

Publication type:

Article

Robert Patman, Strategic Shortfall: The Somalia Syndrome and the March to 9/11.

Published in:

2011

By:

Taylor, StanA.

Publication type:

Book Review

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116

By:

Gordillo, Miriam;
Vega, Hugo;
Trainer, Alison H.;
Hou, Fajian;
Sakai, Norio;
Luque, Ricardo;
Kayserili, Hülya;
Basaran, Seher;
Skovby, Flemming;
Hennekam, Raoul C. M.;
Uzielli, Maria L. Giovannucci;
Schnur, Rhonda E.;
Manouvrier, Sylvie;
Chang, Susan;
Blair, Edward;
Hurst, Jane A.;
Forzano, Francesca;
Meins, Moritz;
Simola, Kalle O.J.;
Raas-Rothschild, Annick

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

Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other.

Published in:

2006

By:

Dalal, Ashwin B.;
Phadke, Shubha R.

Publication type:

journal article

A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.

Published in:

Journal of the College of Physicians & Surgeons Pakistan, 2018, v. 28, n. 5, p. 403, doi. 10.29271/jcpsp.2018.05.403

By:

Mengen, Eda;
Kotan, Leman Damla;
Ucakturk, Seyit Ahmet;
Topaloglu, Ali Kemal;
Yuksel, Bilgin

Publication type:

Article

A Child with Roberts Syndrome.

Published in:: Journal of the College of Physicians & Surgeons Pakistan, 2011, v. 21, n. 7, p. 431
Publication type:: Article

A Child with Roberts Syndrome: A Case Report.

Published in:

Nepal Journal of Neuroscience, 2017, v. 14, n. 2, p. 39, doi. 10.3126/njn.v14i2.19734

By:

Sharma, Rajan K.;
Sharma, Gopal R.;
Bista, Prakash;
Jha, Rajiv

Publication type:

Article

PTSD induced by the trauma of subordinates: the Robert Gates syndrome.

Published in:

Occupational Medicine, 2016, v. 66, n. 3, p. 182, doi. 10.1093/occmed/kqv201

By:

Altschuler, Eric

Publication type:

Article

Roberts-SC phocomelia syndrome: a case with additional anomalies.

Published in:

Clinical Genetics, 1994, v. 45, n. 2, p. 107, doi. 10.1111/j.1399-0004.1994.tb04004.x

By:

Satar, Mehmet;
Atici, Aytuğ;
Bişak, Ufuk;
Tunali, Nurdan

Publication type:

Article

Roberts syndrome and SC phocomelia. A single genetic entity.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 170, doi. 10.1111/j.1399-0004.1987.tb02790.x

By:

Römke, Christiane;
Froster-Iskenius, Ursula;
Heyne, Klaus;
Höhn, Wolfram;
Hof, Marita;
Grzetszczyk, Grzegorz;
Rauskolb, Rüdiger;
Rehder, Helga;
Schwinger, Eberhard

Publication type:

Article

Four siblings with Robert's syndrome.

Published in:

Clinical Genetics, 1982, v. 21, n. 1, p. 1, doi. 10.1111/j.1399-0004.1982.tb02071.x

By:

Zergollern, Ljiljana;
Hitrec, Vlasta

Publication type:

Article