Farhi A - Search Results

1

Sequence variants in SLITRK1 are associated with Tourette's syndrome.

Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. Abelson JF, et al. Among authors: farhi a. Science. 2005 Oct 14;310(5746):317-20. doi: 10.1126/science.1116502. Science. 2005. PMID: 16224024

2

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Fernandez T, et al. Among authors: farhi a. Am J Hum Genet. 2004 Jun;74(6):1286-93. doi: 10.1086/421474. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106122 Free PMC article.

3

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Choate KA, et al. Among authors: farhi a. Science. 2010 Oct 1;330(6000):94-7. doi: 10.1126/science.1192280. Epub 2010 Aug 26. Science. 2010. PMID: 20798280 Free PMC article.

4

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP. Wilson FH, et al. Among authors: farhi a. Science. 2004 Nov 12;306(5699):1190-4. doi: 10.1126/science.1102521. Epub 2004 Oct 21. Science. 2004. PMID: 15498972 Free PMC article.

5

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

Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Mani A, et al. Among authors: farhi a. Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2975-9. doi: 10.1073/pnas.0409852102. Epub 2005 Jan 31. Proc Natl Acad Sci U S A. 2005. PMID: 15684060 Free PMC article.

6

Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Fernandez T, et al. Among authors: farhi a. Am J Hum Genet. 2008 Jun;82(6):1385. doi: 10.1016/j.ajhg.2008.04.021. Am J Hum Genet. 2008. PMID: 18551756 Free PMC article. No abstract available.

7

Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.

Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP. Geller DS, et al. Among authors: farhi a. Science. 2000 Jul 7;289(5476):119-23. doi: 10.1126/science.289.5476.119. Science. 2000. PMID: 10884226

8

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

Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. Boyden LM, et al. Among authors: farhi a. N Engl J Med. 2002 May 16;346(20):1513-21. doi: 10.1056/NEJMoa013444. N Engl J Med. 2002. PMID: 12015390 Free article.

9

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

Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. Scholl UI, et al. Among authors: farhi a. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16. Proc Natl Acad Sci U S A. 2009. PMID: 19289823 Free PMC article.

10

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

Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP. Scholl UI, et al. Among authors: farhi a. Pediatr Nephrol. 2012 Nov;27(11):2081-2090. doi: 10.1007/s00467-012-2219-4. Epub 2012 Aug 21. Pediatr Nephrol. 2012. PMID: 22907601

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