Usha Kini

Usha Kini

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Usha Kini

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 07 14;96(1):72-84. Epub 2019 May 14.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
July 2019

Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice.

Pediatr Dev Pathol 2017 Jul-Aug;20(4):277-287. Epub 2017 Jan 1.

2 Department of Paediatric Surgery, St. John's Medical College and Hospital, St. John's National Academy of Health Sciences, Bangalore, India.

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http://dx.doi.org/10.1177/1093526617692913DOI Listing
May 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Role of synaptophysin in the intraoperative assessment of quadrantic innervation of the proximal doughnut in Hirschsprung disease.

Natl Med J India 2017 Jul-Aug;30(4):187-192

Department of Pathology, St John's Medical College and Hospital, St John's National Academy of Health Sciences, Bengaluru 560034, Karnataka, India.

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http://www.nmji.in/text.asp?2017/30/4/187/218669
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http://dx.doi.org/10.4103/0970-258X.218669DOI Listing
August 2018

HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.

Clin Dysmorphol 2018 Jul;27(3):94-96

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000226DOI Listing
July 2018

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Hum Mutat 2018 06 30;39(6):822-826. Epub 2018 Mar 30.

National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, UK.

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http://dx.doi.org/10.1002/humu.23420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001798PMC
June 2018

Achalasia-microcephaly syndrome: a further case report.

Clin Dysmorphol 2017 Jul;26(3):190-192

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

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http://dx.doi.org/10.1097/MCD.0000000000000181DOI Listing
July 2017

Activation of an exonic splice-donor site in exon 30 of in a patient with severe microcephaly and pigmentary abnormalities.

Clin Case Rep 2016 Oct 23;4(10):952-956. Epub 2016 Aug 23.

Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.

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http://dx.doi.org/10.1002/ccr3.663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054469PMC
October 2016

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

Cell Rep 2016 06 26;15(10):2251-2265. Epub 2016 May 26.

EMBL Australia, The Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3800, Australia; The Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, the University of Western Australia, Nedlands, WA 6009, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.04.090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906373PMC
June 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

Coexistence of alkaptonuric ochronosis and renal cell carcinoma: an unusual association and report of a case.

Indian J Pathol Microbiol 2015 Apr-Jun;58(2):255-6

Department of Pathology, St. John's Medical College and Hospital, St. John's National Academy of Health Sciences, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/0377-4929.155347DOI 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

Kapur-Toriello syndrome: a further case report and expansion of the phenotype.

Clin Dysmorphol 2015 Oct;24(4):170-2

aDepartment of Clinical Genetics, Oxford University Hospitals NHS Trust bThe Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000093DOI Listing
October 2015

Improvised double-embedding technique of minute biopsies: a mega boon to histopathology laboratory.

Indian J Pathol Microbiol 2015 Jan-Mar;58(1):12-6

Department of Pathology, St. John's Medical College and Hospital, St. John's National Academy of Health Sciences, Bengaluru, Karnataka, India.

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http://www.ijpmonline.org/text.asp?2015/58/1/12/151156
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http://dx.doi.org/10.4103/0377-4929.151156DOI Listing
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

Hereditary vitamin D-resistant rickets presenting as alopecia.

Pediatr Dermatol 2014 Jul-Aug;31(4):519-20. Epub 2014 Jun 11.

Department of Dermatology, Oxford University Hospitals, Oxford, UK.

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http://dx.doi.org/10.1111/pde.12327DOI Listing
May 2015

Calretinin immunohistochemistry versus improvised rapid Acetylcholinesterase histochemistry in the evaluation of colorectal biopsies for Hirschsprung disease.

Indian J Pathol Microbiol 2014 Jul-Sep;57(3):369-75

Department of Pathology, St. John's Medical College and Hospital, St. John's National Academy of Health Sciences, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/0377-4929.138717DOI Listing
April 2015

Myhre syndrome with facial paralysis and branch pulmonary stenosis.

Clin Dysmorphol 2015 Apr;24(2):84-5

Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, 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.0000000000000068DOI Listing
April 2015

Correlation of CD4 counts with the FNAC patterns of tubercular lymphadenitis in patients with HIV: a cross sectional pilot study.

Diagn Cytopathol 2015 Jan 24;43(1):16-20. Epub 2014 May 24.

Department of Pathology and Department of Biochemistry, St. John's Medical College and Hospital, Koramangala, Bangalore, Karnataka, India.

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http://doi.wiley.com/10.1002/dc.23177
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http://dx.doi.org/10.1002/dc.23177DOI Listing
January 2015

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(13)00582-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300582
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http://dx.doi.org/10.1016/j.ajhg.2013.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928656PMC
February 2014

Skip segment Hirschsprung's disease: a case report and novel management technique.

Pediatr Surg Int 2014 Jan 15;30(1):119-22. Epub 2013 Aug 15.

Dept. of Pediatric Surgery, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India,

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http://dx.doi.org/10.1007/s00383-013-3367-8DOI Listing
January 2014

Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

Am J Med Genet A 2012 Dec 19;158A(12):3196-200. Epub 2012 Nov 19.

Oxford Kidney Unit, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.35635DOI Listing
December 2012

Named cells in dermatology.

Indian J Dermatol Venereol Leprol 2012 Mar-Apr;78(2):207-16

Department of Dermatology, St John's Medical College and Hospital, Bangalore, Karnataka, India.

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http://www.ijdvl.com/text.asp?2012/78/2/207/93650
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http://dx.doi.org/10.4103/0378-6323.93650DOI Listing
July 2012

Infantile pulmonary tuberculosis: the great mimic.

Pediatr Surg Int 2012 Jun 21;28(6):627-33. Epub 2012 Apr 21.

Department of Paediatric Surgery, St. John's Medical College Hospital, St. John's National Academy of Health Sciences, Bangalore, 560034, India.

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http://dx.doi.org/10.1007/s00383-012-3084-8DOI Listing
June 2012

The face of Ulnar Mammary syndrome?

Eur J Med Genet 2011 May-Jun;54(3):301-5. Epub 2011 Jan 1.

Yorkshire Regional Genetics Centre, Ward 10, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 9TF, England, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100015
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http://dx.doi.org/10.1016/j.ejmg.2010.12.010DOI Listing
September 2011

Multifocal extra-ocular sebaceous carcinoma.

Indian J Dermatol Venereol Leprol 2011 May-Jun;77(3):403

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http://www.ijdvl.com/text.asp?2011/77/3/403/79743
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http://dx.doi.org/10.4103/0378-6323.79743DOI Listing
August 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Hum Mol Genet 2011 Mar 31;20(6):1122-31. Epub 2010 Dec 31.

Institut de Génétique et Développement, CNRS UMR6061, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France.

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http://dx.doi.org/10.1093/hmg/ddq556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390777PMC
March 2011

Segmental dilatation of sigmoid colon in a neonate: atypical presentation and histology.

J Pediatr Surg 2011 Mar;46(3):e1-4

Department of Paediatric Surgery, St. John's Medical College Hospital, St. John's National Academy of Health Sciences, Bangalore, India.

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http://dx.doi.org/10.1016/j.jpedsurg.2010.10.024DOI Listing
March 2011

Diagnosis of Pallister-Killian syndrome by array comparative genome hybridization from a spleen sample.

Clin Dysmorphol 2011 Jan;20(1):58-60

Department of Clinical Genetics, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32833f0420DOI Listing
January 2011

Correlation of antinuclear antibody immunofluorescence patterns with immune profile using line immunoassay in the Indian scenario.

Indian J Pathol Microbiol 2010 Jul-Sep;53(3):427-32

Department of Pathology, St John's Medical College, Bangalore 560 034, India.

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http://dx.doi.org/10.4103/0377-4929.68262DOI Listing
November 2010

Named bodies in dermatology.

Indian J Dermatol Venereol Leprol 2010 Mar-Apr;76(2):206-12

Department of Dermatology, St John's Medical College and Hospital, Karnataka, India.

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http://www.ijdvl.com/text.asp?2010/76/2/206/60551
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http://dx.doi.org/10.4103/0378-6323.60551DOI Listing
September 2010

Role of histopathology as an aid to prognosis in rhino-orbito-cerebral zygomycosis.

Indian J Pathol Microbiol 2010 Apr-Jun;53(2):253-7

Department of Pathology, St. John's Medical College, Koramangala, Bangalore - 560034, India.

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http://dx.doi.org/10.4103/0377-4929.64342DOI Listing
September 2010

The distal level of normally innervated bowel in long segment colonic Hirschsprung's disease.

Pediatr Surg Int 2010 Jun 24;26(6):593-9. Epub 2010 Apr 24.

Department of Paediatric Surgery, St. John's Medical College & Hospital, St. John's National Academy of Health Sciences, Bangalore 560034, India.

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http://dx.doi.org/10.1007/s00383-010-2603-8DOI Listing
June 2010

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.

Am J Med Genet A 2010 Jun;152A(6):1383-9

Department of Clinical Genetics, The Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.33435DOI Listing
June 2010

Vertebral osteomyelitis with a rare etiology diagnosed by fine-needle aspiration cytology.

Diagn Cytopathol 2010 May;38(5):360-3

Department of Pathology, St. John's Medical College and Hospital, Koramangala, Bangalore 560034, India.

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http://dx.doi.org/10.1002/dc.21212DOI Listing
May 2010

Sporadic synchronous ganglioneuromas in a child--case report and review.

J Pediatr Surg 2010 Apr;45(4):822-5

Department of Paediatric Surgery, St. John's Medical College Hospital, St. John's National Academy of Health Sciences, Johnnagara, Bangalore 560034, India.

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http://dx.doi.org/10.1016/j.jpedsurg.2010.01.027DOI Listing
April 2010

Familial isolated congenital asplenia: case report and literature review.

Eur J Pediatr 2010 Mar 19;169(3):315-8. Epub 2009 Jul 19.

Luton and Dunstable Hospital NHS Trust, 40 St. Augustine Avenue, Luton LU3 1QB, UK.

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http://dx.doi.org/10.1007/s00431-009-1030-0DOI Listing
March 2010

Ulnar Mammary syndrome and TBX3: expanding the phenotype.

Am J Med Genet A 2009 Dec;149A(12):2809-12

Department of Clinical Genetics, The Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.33096DOI Listing
December 2009

Hymenolepis nana in squash preparation at endoscopy.

Authors:
Usha Kini

Diagn Cytopathol 2009 Nov;37(11):826-7

Department of Pathology, St John's Medical College, Bangalore 560034, India.

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http://dx.doi.org/10.1002/dc.21026DOI Listing
November 2009

Muscle hemorrhage in a paraplegic adult with neurofibromatosis type 1 and an associated vasculopathy.

Am J Med Genet A 2008 Sep;146A(18):2424-6

Department of Infectious Diseases and Microbiology, Oxford Radcliffe Hospitals, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.32451DOI Listing
September 2008

WCAFTI: worrisome cytologic alterations following tissue infarction; a mimicker of malignancy in breast cytology.

Diagn Cytopathol 2008 Aug;36(8):586-8

Department of Pathology, St. John's Medical College and Hospital, Bangalore 560034, India.

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http://dx.doi.org/10.1002/dc.20843DOI Listing
August 2008

Potocki-Lupski syndrome mimicking a connective tissue disorder.

Clin Dysmorphol 2008 Jul;17(3):211-3

Magdalen College, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328303b9c2DOI Listing
July 2008

Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype.

J Assoc Physicians India 2008 Jul;56:549-51

Department of Pathology, St. John's Medical College and Hospital, Bangalore, India.

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July 2008

Malignant lymphoma without lymphadenopathy.

J Assoc Physicians India 2008 May;56:383-5

Department of Pathology, St. John's Medical College and Hospital, Bangalore 560 034.

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May 2008

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.

Eur J Med Genet 2007 Nov-Dec;50(6):411-20. Epub 2007 Sep 11.

Department of Clinical Genetics, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1016/j.ejmg.2007.08.002DOI Listing
March 2008

Isolated lingual mucormycosis in an infant with Down syndrome.

Ear Nose Throat J 2008 Jan;87(1):34-5, 43

Department of Otolaryngology-Head and Neck Surgery, St. John's Medical College Hospital, Bangalore, India.

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January 2008

Normoblasts in pleural fluid: are they significant?

Diagn Cytopathol 2007 Sep;35(9):590-2

Department of Pathology, St. John's Medical College and Hospital, Koramangala, Bangalore, India.

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http://dx.doi.org/10.1002/dc.20697DOI Listing
September 2007

Role of direct immunofluorescence on Tzanck smears in pemphigus vulgaris.

Diagn Cytopathol 2007 Jul;35(7):403-7

Department of Dermatology, St John's Medical College and Hospital, Bangalore, India.

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http://dx.doi.org/10.1002/dc.20657DOI Listing
July 2007

Unraveling the mystique case of pseudotumor syndrome of pelvis.

Diagn Cytopathol 2007 Jan;35(1):67-70

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http://dx.doi.org/10.1002/dc.20537DOI Listing
January 2007

Role of fine needle aspiration cytology in thyroiditis.

Authors:
Usha Kini

Expert Rev Clin Immunol 2007 Jan;3(1):85-99

Department of Pathology, St John's Medical College, Bangalore 560034, India.

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http://dx.doi.org/10.1586/1744666X.3.1.85DOI Listing
January 2007

Pulmonary oncocytoma: a rare case.

Asian Cardiovasc Thorac Ann 2006 Dec;14(6):e113-4

Department of Cardiothoracic Surgery, St. John's National Academy of Health Sciences, Bangalore, India.

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http://journals.sagepub.com/doi/10.1177/021849230601400628
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http://dx.doi.org/10.1177/021849230601400628DOI Listing
December 2006

A case report of pulmonary placental transmogrification with review of literature.

Indian J Chest Dis Allied Sci 2006 Apr-Jun;48(2):147-50

Department of Pathology, St John's Medical College, Bangalore, India.

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June 2006

Role of FNA in the medical management of minimally enlarged thyroid.

Diagn Cytopathol 2006 Mar;34(3):196-200

Department of Pathology, St. John's Medical College and Hospital, Bangalore 560034, India.

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http://dx.doi.org/10.1002/dc.20415DOI Listing
March 2006

Malakoplakia of the colon in an eight-year-old child.

Diagn Cytopathol 2005 Aug;33(2):145

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http://dx.doi.org/10.1002/dc.20271DOI Listing
August 2005