Sahar Mansour

Sahar Mansour

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Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome.

Lymphat Res Biol 2019 Nov 13. Epub 2019 Nov 13.

Molecular and Clinical Sciences, St George's University of London, London, United Kingdom.

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http://dx.doi.org/10.1089/lrb.2019.0016DOI Listing
November 2019

Proton MR spectroscopy and the detection of malignancy in ovarian masses.

Br J Radiol 2019 Sep 18;92(1101):20190134. Epub 2019 Jul 18.

2Department of Radiology, National Cancer Institute- Faculty of Medicine - Cairo University, Cairo, Egypt.

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http://dx.doi.org/10.1259/bjr.20190134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732908PMC
September 2019

A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE).

J Hand Surg Eur Vol 2019 Jan 25;44(1):96-108. Epub 2018 Sep 25.

1 Molecular and Clinical Sciences Institute, St George's University of London, London, UK.

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http://dx.doi.org/10.1177/1753193418800631DOI Listing
January 2019

Comparison of mean platelet volume levels in coronary artery ectasia and healthy people: systematic review and meta-analysis.

Blood Res 2018 Dec 17;53(4):269-275. Epub 2018 Dec 17.

Clinical Research Development Center, Imam Ali and Taleghani Hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran.

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http://dx.doi.org/10.5045/br.2018.53.4.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300668PMC
December 2018

Ovarian cancer screening-ultrasound; impact on ovarian cancer mortality.

Br J Radiol 2018 Oct 4;91(1090):20170571. Epub 2018 Sep 4.

2 Radiology Department, Faculty of Medicine, Beni Suef University , Beni Suef , Egypt.

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http://dx.doi.org/10.1259/bjr.20170571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350495PMC
October 2018

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Eur J Hum Genet 2018 03 12;26(3):350-358. Epub 2018 Jan 12.

South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.

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http://dx.doi.org/10.1038/s41431-017-0080-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839025PMC
March 2018

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

J Physiol 2018 03 31;596(6):985-992. Epub 2018 Jan 31.

Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.

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http://dx.doi.org/10.1113/JP275718DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851881PMC
March 2018

Surface transperineal ultrasound and vaginal abnormalities: applications and strengths.

Br J Radiol 2017 Dec 13;90(1080):20170326. Epub 2017 Sep 13.

Department of Radiology , Faculty of Medicine, Cairo University (women' s imaging unit) , Cairo, Egypt.

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http://dx.doi.org/10.1259/bjr.20170326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6190777PMC
December 2017

An approach to familial lymphoedema.

Clin Med (Lond) 2017 Dec;17(6):552-557

Department of Clinical Genetics, St Georges Hospital and St George's, University of London, London, UK.

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http://www.clinmed.rcpjournal.org/lookup/doi/10.7861/clinmed
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http://dx.doi.org/10.7861/clinmedicine.17-6-552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297692PMC
December 2017

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Am J Med Genet A 2017 Aug 23;173(8):2251-2256. Epub 2017 May 23.

Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38293DOI Listing
August 2017

Staging of breast cancer and the advanced applications of digital mammogram: what the physician needs to know?

Br J Radiol 2017 Mar 22;90(1071):20160717. Epub 2017 Feb 22.

1 Women's Imaging Unit, Department of Radiology, National Cancer Institute, Cairo University, Egypt.

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http://dx.doi.org/10.1259/bjr.20160717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601512PMC
March 2017

Diffusion-weighted MR imaging and assessment of ovarian carcinomas with vaginal deposit accidentally detected during pregnancy.

BJR Case Rep 2017 14;3(1):20150411. Epub 2016 Oct 14.

Faculty of Medicine, Radiology Department (Women's Imaging Unit), Cairo University, Cairo, Egypt.

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http://dx.doi.org/10.1259/bjrcr.20150411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159271PMC
October 2016

Clinicopathological Significance of CD133 and ALDH1 Cancer Stem Cell Marker Expression in Invasive Ductal Breast Carcinoma.

Asian Pac J Cancer Prev 2015 ;16(17):7491-6

Pathology Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt E-mail :

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http://dx.doi.org/10.7314/apjcp.2015.16.17.7491DOI Listing
September 2016

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

JAMA Ophthalmol 2016 Sep;134(9):1049-53

Institute of Ophthalmology, University College London, London, England2Moorfields Eye Hospital, London, England7Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5833DOI Listing
September 2016

Can we apply the MRI BI-RADS lexicon morphology descriptors on contrast-enhanced spectral mammography?

Br J Radiol 2016 Aug 21;89(1064):20160157. Epub 2016 Jun 21.

4 Department of Biostatistics and Cancer Epidemiology, National Cancer Institute, Cairo University, Egypt.

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http://dx.doi.org/10.1259/bjr.20160157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124889PMC
August 2016

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

Eur J Hum Genet 2016 May 5;24(5):690-6. Epub 2015 Aug 5.

SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930084PMC
May 2016

Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case.

Pediatr Int 2016 Apr 16;58(4):298-300. Epub 2015 Nov 16.

Department of Paediatric and Neonatal Surgery, St George's Healthcare NHS Trust and University of London, London, UK.

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http://dx.doi.org/10.1111/ped.12772DOI Listing
April 2016

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

J Med Genet 2016 Mar 5;53(3):152-62. Epub 2015 Nov 5.

INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789813PMC
March 2016

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.

Eur J Hum Genet 2015 Dec 25;23(12):1634-9. Epub 2015 Mar 25.

South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486366PMC
December 2015

Use of somatostatin analogues to treat chylothorax in a child with Generalised Lymphatic Dysplasia.

Respir Med Case Rep 2012 1;5:76-7. Epub 2011 Oct 1.

Department of Respiratory Paediatrics, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.

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http://dx.doi.org/10.1016/j.rmedc.2011.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920370PMC
June 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Comparative study between computed tomography guided superior hypogastric plexus block and the classic posterior approach: A prospective randomized study.

Saudi J Anaesth 2014 Jul;8(3):378-83

Department of Radiology Women's Imaging Unit, Faculty of Medicine, Cairo University, Cairo, Egypt.

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http://dx.doi.org/10.4103/1658-354X.136625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141389PMC
July 2014

Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.

Am J Med Genet A 2014 Apr 23;164A(4):1003-9. Epub 2014 Jan 23.

SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.36375DOI Listing
April 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Is solitary kidney really more resistant to ischemia? An experimental canine study.

J Urol 2013 Sep 19;190(3):1110-5. Epub 2013 Mar 19.

Urology and Nephrology Center, Mansoura University, Mansoura, Egypt.

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http://dx.doi.org/10.1016/j.juro.2013.03.042DOI Listing
September 2013

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

Hum Mutat 2013 Jan 16;34(1):23-31. Epub 2012 Oct 16.

Department of Cardiac and Vascular Sciences, St George's University of London, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.22223DOI Listing
January 2013

Elastography ultrasound and questionable breast lesions: does it count?

Eur J Radiol 2012 Nov 15;81(11):3234-44. Epub 2012 May 15.

Radiology Department (Women's Imaging Unit), Faculty of Medicine, Cairo University, Egypt.

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http://dx.doi.org/10.1016/j.ejrad.2012.04.021DOI Listing
November 2012

Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?

Am J Med Genet A 2011 Nov 22;155A(11):2762-5. Epub 2011 Sep 22.

Department of Dermatology, St George's Healthcare NHS Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.34188DOI Listing
November 2011

Pierpont syndrome: a collaborative study.

Am J Med Genet A 2011 Sep 10;155A(9):2203-11. Epub 2011 Aug 10.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495254PMC
September 2011

An atypical case of hypomethylation at multiple imprinted loci.

Eur J Hum Genet 2011 Mar 5;19(3):360-2. Epub 2011 Jan 5.

SW Thames Regional Genetics Service, St George's NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2010.218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061991PMC
March 2011

Prenatal diagnosis of non-immune hydrops fetalis: what do we tell the parents?

Prenat Diagn 2011 Feb 4;31(2):186-95. Epub 2011 Jan 4.

Fetal Medicine Unit, Academic Department of Obstetrics and Gynaecology, St George's Hospital Medical School, London, UK.

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http://dx.doi.org/10.1002/pd.2677DOI Listing
February 2011

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Hum Genet 2010 Feb 13;127(2):231-41. Epub 2009 Nov 13.

Medical Genetics Unit, Clinical Developmental Sciences, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1007/s00439-009-0766-yDOI Listing
February 2010

Women Health Outreach Program; a New Experience for all Egyptian Women.

J Egypt Natl Canc Inst 2008 Dec;20(4):313-22

The Department of Radiology, Women Imaging Unit, Cairo University. Senior Consultant, Cairo Radiology Center, Radiology Consultant for The Ministry of Health, GM of Women's Health Outreach Program (WHOP), President of National Foundation for Breast Cancer Elimination, Secretary General of Egyptian Society of Women's Imaging and Health Care (ESWIH).

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December 2008

Congenital vascular malformations: a series of five prenatally diagnosed cases.

Am J Med Genet A 2008 Oct;146A(20):2673-80

South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.32502DOI Listing
October 2008

Chondrodysplasia punctata: a clinical diagnostic and radiological review.

Clin Dysmorphol 2008 Oct;17(4):229-41

Department of Clinical Genetics, Guy's and St Thomas' Hospitals Foundation Trust, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282fdcc70DOI Listing
October 2008

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

Eur J Hum Genet 2008 Mar 16;16(3):300-4. Epub 2008 Jan 16.

Molecular Ophthalmic Genetics Laboratory, Department of Surgery, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06032-1110, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201982DOI Listing
March 2008

Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.

Arch Dermatol 2008 Mar;144(3):320-4

Division of Gastroenterology and Hepatology, Department of Medicine, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archderm.144.3.320DOI Listing
March 2008

The association of primary hyperparathyroidism and primary ovarian failure: a de novo t(X; 2) (q22p13) reciprocal translocation.

Eur J Endocrinol 2008 Feb;158(2):261-3

Department of Cellular and Molecular Medicine, St George's University of London, Cranmer Terrace, London SW17 QRE, UK.

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https://eje.bioscientifica.com/view/journals/eje/158/2/261.x
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http://dx.doi.org/10.1530/EJE-07-0604DOI Listing
February 2008

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

Nat Clin Pract Oncol 2007 Feb;4(2):130-4

Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/ncponc0719DOI Listing
February 2007