Sandesh C S Nagamani

Sandesh C S Nagamani

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Sandesh C S Nagamani

Sandesh C S Nagamani

Publications by authors named "Sandesh C S Nagamani"

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37Publications

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Early prediction of phenotypic severity in Citrullinemia Type 1.

Ann Clin Transl Neurol 2019 Aug 30. Epub 2019 Aug 30.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1002/acn3.50886DOI Listing
August 2019

Alterations in non-type I collagen biomarkers in osteogenesis imperfecta.

Bone 2019 Mar 2;120:70-74. Epub 2018 Oct 2.

Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OR, United States of America.

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183036
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http://dx.doi.org/10.1016/j.bone.2018.09.024DOI Listing
March 2019

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.

Clin Imaging 2018 Sep - Oct;51:160-163. Epub 2018 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, One Baylor Plaza, Houston, TX 77030, USA; Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clinimag.2018.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138553PMC
December 2018

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Am J Hum Genet 2018 08;103(2):276-287

Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080833PMC
August 2018

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

Hum Mol Genet 2017 08;26(16):3046-3055

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddx178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886079PMC
August 2017

A metabolic link between the urea cycle and cancer cell proliferation.

Mol Cell Oncol 2016 Mar 18;3(2):e1127314. Epub 2016 Feb 18.

Department of Biological Regulation, Weizmann Institute of Science , Rehovot, Israel.

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http://dx.doi.org/10.1080/23723556.2015.1127314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905422PMC
March 2016

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):131-5. Epub 2014 Jul 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177960PMC
June 2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449285PMC
June 2015

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Hum Mol Genet 2014 Sep 20;23(R1):R1-8. Epub 2014 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Howard Hughes Medical Institute, Houston, TX 77030, USA

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http://dx.doi.org/10.1093/hmg/ddu123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170715PMC
September 2014

The practice of adult genetics: a 7-year experience from a single center.

Am J Med Genet A 2013 Jan 13;161A(1):89-93. Epub 2012 Dec 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35684
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http://dx.doi.org/10.1002/ajmg.a.35684DOI Listing
January 2013

Optimizing therapy for argininosuccinic aciduria.

Mol Genet Metab 2012 Sep 20;107(1-2):10-4. Epub 2012 Jul 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444682PMC
September 2012

Argininosuccinate lyase deficiency.

Genet Med 2012 May 5;14(5):501-7. Epub 2012 Jan 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Sandesh C.S. Nagamani

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http://dx.doi.org/10.1038/gim.2011.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709024PMC
May 2012