Publications by authors named "Abhijit Dixit"

24Publications

Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease.

Breathe (Sheff) 2020 Mar;16(1):190319

Paediatric Respiratory Medicine, Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.1183/20734735.0319-2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249791PMC
March 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

Eur Urol Oncol 2019 Dec 9. Epub 2019 Dec 9.

Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Health Innovation Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.euo.2019.11.002DOI Listing
December 2019

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

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

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
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38355DOI Listing
October 2017

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

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

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

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

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

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

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