Publications by authors named "Kathryn Singh"

12Publications

ALG11-CDG syndrome: Expanding the phenotype.

Am J Med Genet A 2019 03 24;179(3):498-502. Epub 2019 Jan 24.

Clinical Genetics, Stanford Children's Health, Palo Alto, California.

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http://dx.doi.org/10.1002/ajmg.a.61046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426632PMC
March 2019

Orbital infections: a complete cycle 7-year audit and a management guideline.

Eur Arch Otorhinolaryngol 2018 Aug 4;275(8):2079-2088. Epub 2018 Jun 4.

ENT Department, University Hospitals Plymouth NHS Trust, Peninsula Schools of Medicine and Dentistry, Plymouth University, Plymouth, UK.

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http://dx.doi.org/10.1007/s00405-018-5025-1DOI Listing
August 2018

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Am J Med Genet A 2017 Jun 3;173(6):1663-1667. Epub 2017 Mar 3.

Department of Pediatrics, Division of Genetic and Genomic Medicine, University of California, Irvine, Orange, California.

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http://dx.doi.org/10.1002/ajmg.a.38204DOI Listing
June 2017

Colorectal Cancer Incidence Among Young Adults in California.

J Adolesc Young Adult Oncol 2014 Dec;3(4):176-184

Department of Epidemiology, University of California , Irvine, Irvine, California. ; Chao Family Comprehensive Cancer Center, University of California , Irvine, Irvine, California. ; Genetic Epidemiology Research Institute, University of California , Irvine, Irvine, California. ; Division of Hematology/Oncology, Department of Medicine, University of California , Irvine, Irvine, California.

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http://dx.doi.org/10.1089/jayao.2014.0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270106PMC
December 2014

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.

Am J Med Genet A 2014 Jul 26;164A(7):1761-4. Epub 2014 Mar 26.

Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine School of Medicine, Orange, California.

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http://dx.doi.org/10.1002/ajmg.a.36494DOI Listing
July 2014

Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time.

Pediatr Pulmonol 2014 Mar 4;49(3):E103-8. Epub 2013 Nov 4.

Pediatric Pulmonology/Allergy/Immunology, Miller Children's Hospital, Long Beach, University of California, Irvine.

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http://dx.doi.org/10.1002/ppul.22918DOI Listing
March 2014

Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.

Genet Med 2013 Jan 23;15(1):79-83. Epub 2012 Aug 23.

Division of Genetics and Metabolism, University of California, Irvine, Irvine, California, USA.

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http://www.nature.com/articles/gim201296
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http://dx.doi.org/10.1038/gim.2012.96DOI Listing
January 2013

An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses.

Am J Med Genet A 2011 Apr 15;155A(4):748-56. Epub 2011 Mar 15.

Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33934DOI Listing
April 2011

A p53-independent role of Mdm2 in estrogen-mediated activation of breast cancer cell proliferation.

Breast Cancer Res 2011 Jan 11;13(1):R3. Epub 2011 Jan 11.

Department of Biological Sciences, Hunter College and The Graduate Center Biochemistry and Biology Programs, CUNY, 695 Park Ave, New York, NY 10065, USA.

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http://breast-cancer-research.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/bcr2804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109566PMC
January 2011