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IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.
Published in:
Nature Genetics, 2000, v. 26, n. 3, p. 354, doi. 10.1038/81677
By:
- Gharavi, Ali G.;
- Yan, Yan;
- Scolari, Francesco;
- Schena, F. Paolo;
- Frasca, Giovanni M.;
- Ghiggeri, Gian Marco;
- Cooper, Kerry;
- Amoroso, Antonio;
- Viola, Battista Fabio;
- Battini, Graziana;
- Caridi, Gianluca;
- Canova, Cristina;
- Farhi, Anita;
- Subramanian, Vairavan;
- Nelson-Williams, Carol;
- Woodford, Sue;
- Julian, Bruce A.;
- Wyatt, Robert J.;
- Lifton, Richard P.
Publication type:
Article
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1703, doi. 10.1172/JCI64415
By:
- Choate, Keith A.;
- Yin Lu;
- Jing Zhou;
- Elias, Peter M.;
- Zaidi, Samir;
- Paller, Amy S.;
- Farhi, Anita;
- Nelson-Williams, Carol;
- Crumrine, Debra;
- Milstone, Leonard M.;
- Lifton, Richard P.
Publication type:
Article
An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred.
Published in:
Pediatric Dermatology, 2012, v. 29, n. 6, p. 725, doi. 10.1111/j.1525-1470.2012.01757.x
By:
- Yang, Catherine S.;
- Lu, Yin;
- Farhi, Anita;
- Nelson-Williams, Carol;
- Kashgarian, Michael;
- Glusac, Earl J.;
- Lifton, Richard P.;
- Antaya, Richard J.;
- Choate, Keith A.
Publication type:
Article
SeSAME/EAST syndrome-phenotypic variability and delayed activity of the distal convoluted tubule.
Published in:
Pediatric Nephrology, 2012, v. 27, n. 11, p. 2081, doi. 10.1007/s00467-012-2219-4
By:
- Scholl, Ute;
- Dave, Haatal;
- Lu, Ming;
- Farhi, Anita;
- Nelson-Williams, Carol;
- Listman, James;
- Lifton, Richard
Publication type:
Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Published in:
Nature, 2012, v. 482, n. 7383, p. 98, doi. 10.1038/nature10814
By:
- Boyden, Lynn M.;
- Choi, Murim;
- Choate, Keith A.;
- Nelson-Williams, Carol J.;
- Farhi, Anita;
- Toka, Hakan R.;
- Tikhonova, Irina R.;
- Bjornson, Robert;
- Mane, Shrikant M.;
- Colussi, Giacomo;
- Lebel, Marcel;
- Gordon, Richard D.;
- Semmekrot, Ben A.;
- Poujol, Alain;
- Välimäki, Matti J.;
- De Ferrari, Maria E.;
- Sanjad, Sami A.;
- Gutkin, Michael;
- Karet, Fiona E.;
- Tucci, Joseph R.
Publication type:
Article
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.
Published in:
Nephrology Dialysis Transplantation, 2004, v. 19, n. 11, p. 2893, doi. 10.1093/ndt/gfh426
By:
- Jean Francis;
- Junhui Zhang;
- Anita Farhi;
- Hugh Carey;
- David S. Geller
Publication type:
Article

Found: 6

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred.

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

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

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