Mohnish Suri

Mohnish Suri

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Mohnish Suri

Publications by authors named "Mohnish Suri"

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CDK13-related disorder.

Adv Genet 2019 11;103:163-182. Epub 2018 Dec 11.

Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/bs.adgen.2018.11.001DOI Listing
December 2018

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Eur J Paediatr Neurol 2018 Nov 27;22(6):1095-1102. Epub 2018 Aug 27.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.08.002DOI Listing
November 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet G E M Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia T J M Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 03 6;118(6):e17. Epub 2018 Mar 6.

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http://dx.doi.org/10.1038/bjc.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877440PMC
March 2018

Response.

Clin Med (Lond) 2018 03;18(2):192

Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.7861/clinmedicine.18-2-192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303452PMC
March 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet Gem Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia Tjm Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 01 4;118(2):266-276. Epub 2018 Jan 4.

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

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http://dx.doi.org/10.1038/bjc.2017.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785754PMC
January 2018

A clinical approach to developmental delay and intellectual disability.

Clin Med (Lond) 2017 Dec;17(6):558-561

Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.

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http://dx.doi.org/10.7861/clinmedicine.17-6-558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297696PMC
December 2017

Ataxia telangiectasia: presentation and diagnostic delay.

Arch Dis Child 2017 04 31;102(4):328-330. Epub 2016 Oct 31.

Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.

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http://dx.doi.org/10.1136/archdischild-2016-310477DOI Listing
April 2017

Growth and nutrition in children with ataxia telangiectasia.

Arch Dis Child 2016 Dec 29;101(12):1137-1141. Epub 2016 Aug 29.

Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.

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http://dx.doi.org/10.1136/archdischild-2015-310373DOI Listing
December 2016

Approach to the Diagnosis of Overgrowth Syndromes.

Authors:
Mohnish Suri

Indian J Pediatr 2016 Oct 18;83(10):1175-87. Epub 2015 Dec 18.

Nottingham Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, The Gables, City Hospital Campus, Hucknall Road, Nottingham, NG5 1PB, UK.

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http://dx.doi.org/10.1007/s12098-015-1958-1DOI Listing
October 2016

3p14p12 deletion syndrome: report of a new case providing further evidence of a clinically recognizable syndrome.

Clin Dysmorphol 2016 Oct;25(4):163-6

aNottingham Clinical Genetics Service bRegional Cytogenetics Laboratory, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000135DOI Listing
October 2016

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

Longitudinal analysis of the neurological features of ataxia-telangiectasia.

Dev Med Child Neurol 2016 07 19;58(7):690-7. Epub 2016 Feb 19.

School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK.

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http://dx.doi.org/10.1111/dmcn.13052DOI Listing
July 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Am J Med Genet A 2016 May 20;170A(5):1216-24. Epub 2016 Jan 20.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37564DOI Listing
May 2016

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.

Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

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http://dx.doi.org/10.1002/mgg3.209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867568PMC
May 2016

When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.

Pract Neurol 2016 Apr 10;16(2):111-21. Epub 2016 Feb 10.

Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.1136/practneurol-2015-001247DOI Listing
April 2016

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies--a previously unreported occurrence.

Childs Nerv Syst 2015 Jul 19;31(7):1033-5. Epub 2015 May 19.

Regional Imaging, 3 Ramsay Place, West Albury, NSW, 2640, Australia,

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http://dx.doi.org/10.1007/s00381-015-2750-2DOI Listing
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.

Authors:
Elizabeth K Bancroft Elizabeth C Page Elena Castro Hans Lilja Andrew Vickers Daniel Sjoberg Melissa Assel Christopher S Foster Gillian Mitchell Kate Drew Lovise Mæhle Karol Axcrona D Gareth Evans Barbara Bulman Diana Eccles Donna McBride Christi van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Christina Selkirk Peter J Hulick Anders Bojesen Anne-Bine Skytte Jimmy Lam Louise Taylor Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Ignacio Blanco Monica Salinas Jackie Cook Derek J Rosario Saundra Buys Tom Conner Margreet G Ausems Kai-ren Ong Jonathan Hoffman Susan Domchek Jacquelyn Powers Manuel R Teixeira Sofia Maia William D Foulkes Nassim Taherian Marielle Ruijs Apollonia T Helderman-van den Enden Louise Izatt Rosemarie Davidson Muriel A Adank Lisa Walker Rita Schmutzler Kathy Tucker Judy Kirk Shirley Hodgson Marion Harris Fiona Douglas Geoffrey J Lindeman Janez Zgajnar Marc Tischkowitz Virginia E Clowes Rachel Susman Teresa Ramón y Cajal Nicholas Patcher Neus Gadea Allan Spigelman Theo van Os Annelie Liljegren Lucy Side Carole Brewer Angela F Brady Alan Donaldson Vigdis Stefansdottir Eitan Friedman Rakefet Chen-Shtoyerman David J Amor Lucia Copakova Julian Barwell Veda N Giri Vedang Murthy Nicola Nicolai Soo-Hwang Teo Lynn Greenhalgh Sara Strom Alex Henderson John McGrath David Gallagher Neil Aaronson Audrey Ardern-Jones Chris Bangma David Dearnaley Philandra Costello Jorunn Eyfjord Jeanette Rothwell Alison Falconer Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Zsofia Kote-Jarai Jan Lubinski Ulrika Axcrona Jane Melia Joanne McKinley Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Penny Wilson Emma Killick Sue Moss Rosalind A Eeles

Eur Urol 2014 Sep 15;66(3):489-99. Epub 2014 Jan 15.

Oncogenetics Team, Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.eururo.2014.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105321PMC
September 2014

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

J Hum Genet 2014 Jun 20;59(6):300-6. Epub 2014 Mar 20.

1] Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden [2] Department of Medical and Clinical Genetics, Sahlgrenska Academy, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden [3] Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.

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http://dx.doi.org/10.1038/jhg.2014.21DOI Listing
June 2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Orphanet J Rare Dis 2014 Jan 28;9:15. Epub 2014 Jan 28.

Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.1186/1750-1172-9-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937150PMC
January 2014

Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

Am J Med Genet A 2013 Oct 5;161A(10):2588-93. Epub 2013 Aug 5.

Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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http://dx.doi.org/10.1002/ajmg.a.36094DOI Listing
October 2013

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet J Rare Dis 2013 May 4;8:68. Epub 2013 May 4.

Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006PMC
May 2013

17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

Am J Med Genet A 2012 Sep 6;158A(9):2317-21. Epub 2012 Aug 6.

Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.35520DOI Listing
September 2012

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

Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome.

Clin Dysmorphol 2011 Jul;20(3):131-5

Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals, Queen's Medical Centre Campus, Hucknall Road, Nottingham, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328346f6dcDOI Listing
July 2011

Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.

Clin Dysmorphol 2011 Apr;20(2):61-5

Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals, Nottingham, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0b013e3283448498DOI Listing
April 2011

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Am J Med Genet A 2011 Jan;155A(1):235-7

Department of Dermatology, Nottingham University Hospitals NHS Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.33778DOI Listing
January 2011

Extreme hypernatraemia, breast-feeding and red skin.

Pediatr Nephrol 2010 Feb 7;25(2):379-80. Epub 2009 Oct 7.

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http://dx.doi.org/10.1007/s00467-009-1314-7DOI Listing
February 2010

Genetic basis for acute necrotizing encephalopathy of childhood.

Authors:
Mohnish Suri

Dev Med Child Neurol 2010 Jan 6;52(1):4-5. Epub 2009 Oct 6.

Nottingham University Hospitals NHS Trust, Clinical Genetics Service, Nottingham, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03495.xDOI Listing
January 2010

Griscelli syndrome type 1: a report of two cases and review of the literature.

Clin Dysmorphol 2009 Jul;18(3):145-8

North West Thames Regional Genetics Centre, Northwick Park and St Mark's Hospital, Harrow, London, UK.

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https://insights.ovid.com/crossref?an=00019605-200907000-000
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http://dx.doi.org/10.1097/MCD.0b013e328317b870DOI Listing
July 2009

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

J Neurol Sci 2007 Sep 15;260(1-2):78-82. Epub 2007 May 15.

University of Nottingham Division of Clinical Neurosciences, University Hospital, Queen's Medical Centre, Nottingham, UK.

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http://dx.doi.org/10.1016/j.jns.2007.04.013DOI Listing
September 2007

Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion.

Clin Dysmorphol 2007 Apr;16(2):101-4

Clinical Genetics Service, City Hospital, Nottingham, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32806e0931DOI Listing
April 2007

A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred.

Am J Med Genet A 2006 Feb;140(4):349-57

Predoctoral Training Program in Human Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, MD, USA, and MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK.

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http://doi.wiley.com/10.1002/ajmg.a.31080
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31080DOI Listing
February 2006

Asplenia in ATR-X syndrome: a second report.

Am J Med Genet A 2005 Nov;139(1):37-9

Regional Hospital, Limerick, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.30990DOI Listing
November 2005

Craniofacial syndromes.

Authors:
Mohnish Suri

Semin Fetal Neonatal Med 2005 Jun 17;10(3):243-57. Epub 2005 Feb 17.

Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK.

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http://dx.doi.org/10.1016/j.siny.2004.12.002DOI Listing
June 2005

The phenotypic spectrum of ARX mutations.

Authors:
Mohnish Suri

Dev Med Child Neurol 2005 Feb;47(2):133-7

Clinical Genetics Service, City Hospital, Nottingham, UK.

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http://dx.doi.org/10.1017/s001216220500023xDOI Listing
February 2005

Congenital cardiac disease as a core feature of cranio-osteoarthropathy.

Clin Dysmorphol 2004 Oct;13(4):213-9

Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

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October 2004

Central osteosclerosis with trichothiodystrophy.

Pediatr Radiol 2004 Jul 18;34(7):541-6. Epub 2004 May 18.

North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow HAI 3UJ, Middlesex, UK.

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http://dx.doi.org/10.1007/s00247-004-1207-7DOI Listing
July 2004

What's new in neurogenetics? Focus on "primary microcephaly".

Authors:
Mohnish Suri

Eur J Paediatr Neurol 2003 ;7(6):389-92

Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK.

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February 2004

Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case.

Clin Dysmorphol 2002 Oct;11(4):267-70

Clinical Genetics Service, City Hospital, Nottingham, UK.

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October 2002