Katta Mohan Girisha

Katta Mohan Girisha

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Katta Mohan Girisha

Katta Mohan Girisha

Publications by authors named "Katta Mohan Girisha"

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34Publications

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Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

J Hum Genet 2019 Oct 8. Epub 2019 Oct 8.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-019-0678-1DOI Listing
October 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Sep 17. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
September 2019

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Eur J Med Genet 2019 Aug 25;62(8):103708. Epub 2019 Jun 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103708DOI Listing
August 2019

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Bone 2018 05 27;110:368-377. Epub 2018 Feb 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.02.029DOI Listing
May 2018

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Eur J Hum Genet 2016 08 16;24(8):1206-10. Epub 2015 Dec 16.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970677PMC
August 2016

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Indian Pediatr 2016 Aug;53(8):735-7

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; and #Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal; India. Correspondence to: Dr Shubha Phadke, Professor and Head, Department of Medical genetics, Sanjay Gandhi Post graduate Institute, Lucknow 226 010, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s13312-016-0921-1DOI Listing
August 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Am J Med Genet A 2016 Feb 24;170A(2):410-417. Epub 2015 Nov 24.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.37447DOI Listing
February 2016

Familial 7q11.23 duplication with variable phenotype.

Am J Med Genet A 2015 Nov 24;167A(11):2727-30. Epub 2015 Jun 24.

Department of Pediatrics, Narayana Multispecialty Hospital, Bangalore, India.

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http://dx.doi.org/10.1002/ajmg.a.37226DOI Listing
November 2015

White matter changes in GM1 gangliosidosis.

Indian Pediatr 2015 Feb;52(2):155-6

Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh; and *Kasturba Medical College, Manipal University, Manipal, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow 226 014.

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http://dx.doi.org/10.1007/s13312-015-0593-2DOI Listing
February 2015

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Eur J Med Genet 2015 Jan 24;58(1):21-7. Epub 2014 Oct 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.10.001DOI Listing
January 2015

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Am J Med Genet A 2014 Jun 25;164A(6):1482-9. Epub 2014 Mar 25.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.36481DOI Listing
June 2014

A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

Indian J Pediatr 2014 Mar 15;81(3):302-4. Epub 2013 Oct 15.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, 576104, India,

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http://dx.doi.org/10.1007/s12098-013-1253-yDOI Listing
March 2014

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Am J Med Genet A 2013 Feb 10;161A(2):352-9. Epub 2013 Jan 10.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.35730
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http://dx.doi.org/10.1002/ajmg.a.35730DOI Listing
February 2013

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Am J Med Genet A 2012 Nov 17;158A(11):2941-5. Epub 2012 Sep 17.

Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.35618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477260PMC
November 2012

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type.

Indian J Hum Genet 2012 Sep;18(3):346-8

Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.4103/0971-6866.108025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656526PMC
September 2012

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Am J Med Genet A 2012 May 11;158A(5):1225-8. Epub 2012 Apr 11.

Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.35295DOI Listing
May 2012

Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports.

Clin Dysmorphol 2012 Apr;21(2):83-6

Department of Pediatrics, Genetics Clinic, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1097/MCD.0b013e328350ae74DOI Listing
April 2012

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.

Clin Dysmorphol 2011 Oct;20(4):205-9

Genetics Clinic, Department of Pediatrics, Kasturba Medical College and Hospital, Manipal University, Manipal, India.

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http://dx.doi.org/10.1097/MCD.0b013e328348d956DOI Listing
October 2011

Milder form of pachydermoperiostosis: a report of four cases.

Clin Dysmorphol 2009 Apr;18(2):85-9

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1097/MCD.0b013e32832443ddDOI Listing
April 2009