Abhijit Dixit

Abhijit Dixit

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Abhijit Dixit

Abhijit Dixit

Publications by authors named "Abhijit Dixit"

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20Publications

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Seeing the diagnosis on karyotype-SOX2 and eye development.

Ophthalmic Genet 2017 12 1;38(6):580-583. Epub 2017 Mar 1.

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

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https://www.tandfonline.com/doi/full/10.1080/13816810.2017.1
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http://dx.doi.org/10.1080/13816810.2017.1290119DOI Listing
December 2017

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Am J Med Genet A 2017 Oct 11;173(10):2596-2604. Epub 2017 Jul 11.

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38355
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http://dx.doi.org/10.1002/ajmg.a.38355DOI Listing
October 2017

The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability.

Am J Med Genet A 2017 Oct 11;173(10):2731-2735. Epub 2017 Jul 11.

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

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http://dx.doi.org/10.1002/ajmg.a.38356DOI Listing
October 2017

Cover Image, Volume 173A, Number 10, October 2017.

Am J Med Genet A 2017 Oct;173(10)

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38481DOI Listing
October 2017

Renal failure from birth-AKI or CKD? Questions.

Pediatr Nephrol 2016 12 18;31(12):2257. Epub 2016 Feb 18.

Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Derby Road, Nottingham, NG7 2UH, UK.

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http://dx.doi.org/10.1007/s00467-016-3331-7DOI Listing
December 2016

Renal failure from birth-AKI or CKD? Answers.

Pediatr Nephrol 2016 12 18;31(12):2259-2262. Epub 2016 Feb 18.

Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Derby Road, Nottingham, NG7 2UH, UK.

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http://dx.doi.org/10.1007/s00467-016-3332-6DOI Listing
December 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

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.

Am J Med Genet A 2016 Mar 10;170(3):804-8. Epub 2015 Dec 10.

Department of Community Paediatrics, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.37497DOI Listing
March 2016

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

Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI.

J Assist Reprod Genet 2013 Sep 11;30(9):1133-9. Epub 2013 Aug 11.

National Institute for Research in Reproductive Health (ICMR), J. M. Street, Parel, Mumbai, 400012, Maharashtra, India.

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http://dx.doi.org/10.1007/s10815-013-0074-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800537PMC
September 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

Neurologic presentation of triple A syndrome.

Pediatr Neurol 2011 Nov;45(5):347-9

Department of Clinical Genetics, Nottingham City Hospital, Nottingham, United Kingdom.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.07.003DOI Listing
November 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