Anita Farhi

Anita Farhi

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Anita Farhi

Anita Farhi

Publications by authors named "Anita Farhi"

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15Publications

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SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Pediatr Nephrol 2012 Nov 21;27(11):2081-2090. Epub 2012 Aug 21.

Departments of Genetics and Internal Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, 300 Cedar Street, New Haven, CT, 06510, USA.

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http://dx.doi.org/10.1007/s00467-012-2219-4DOI Listing
November 2012

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Proc Natl Acad Sci U S A 2012 Feb 30;109(7):2533-8. Epub 2012 Jan 30.

Departments of Genetics and Internal Medicine and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.1121407109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3289329PMC
February 2012

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Proc Natl Acad Sci U S A 2009 Nov 27;106(45):19096-101. Epub 2009 Oct 27.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.0910672106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768590PMC
November 2009

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Proc Natl Acad Sci U S A 2009 Apr 16;106(14):5842-7. Epub 2009 Mar 16.

Department of Genetics, The Howard Hughes Medical Institute, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0901749106
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http://dx.doi.org/10.1073/pnas.0901749106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656559PMC
April 2009

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Proc Natl Acad Sci U S A 2005 Feb 31;102(8):2975-9. Epub 2005 Jan 31.

Department of Medicine, Howard Hughes Medical Institute and Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.0409852102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC549488PMC
February 2005

A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.

Nephrol Dial Transplant 2004 Nov;19(11):2893-5

Department of Internal Medicine, Hospital of St. Raphael, CT, USA.

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http://dx.doi.org/10.1093/ndt/gfh426DOI Listing
November 2004

High bone density due to a mutation in LDL-receptor-related protein 5.

N Engl J Med 2002 May;346(20):1513-21

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1056/NEJMoa013444DOI Listing
May 2002