Renbaum P - Search Results

1

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Renbaum P, et al. Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646678 Free PMC article.

2

Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism.

Kaplan M, Hammerman C, Rubaltelli FF, Vilei MT, Levy-Lahad E, Renbaum P, Vreman HJ, Stevenson DK, Muraca M. Kaplan M, et al. Among authors: renbaum p. Hepatology. 2002 Apr;35(4):905-11. doi: 10.1053/jhep.2002.32526. Hepatology. 2002. PMID: 11915038

3

Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells.

Renbaum P, Beeri R, Gabai E, Amiel M, Gal M, Ehrengruber MU, Levy-Lahad E. Renbaum P, et al. Gene. 2003 Oct 30;318:113-24. doi: 10.1016/s0378-1119(03)00766-2. Gene. 2003. PMID: 14585504

4

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Shaag A, et al. Among authors: renbaum p. Hum Mol Genet. 2005 Feb 15;14(4):555-63. doi: 10.1093/hmg/ddi052. Epub 2005 Jan 13. Hum Mol Genet. 2005. PMID: 15649950

5

(TA)n UGT 1A1 promoter polymorphism: a crucial factor in the pathophysiology of jaundice in G-6-PD deficient neonates.

Kaplan M, Renbaum P, Vreman HJ, Wong RJ, Levy-Lahad E, Hammerman C, Stevenson DK. Kaplan M, et al. Among authors: renbaum p. Pediatr Res. 2007 Jun;61(6):727-31. doi: 10.1203/pdr.0b013e31805365c5. Pediatr Res. 2007. PMID: 17426648

6

Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

Altarescu G, Brooks B, Margalioth E, Eldar Geva T, Levy-Lahad E, Renbaum P. Altarescu G, et al. Among authors: renbaum p. Reprod Biomed Online. 2007 Jul;15(1):83-8. doi: 10.1016/s1472-6483(10)60696-7. Reprod Biomed Online. 2007. PMID: 17623543

7

(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates.

Kaplan M, Slusher T, Renbaum P, Essiet DF, Pam S, Levy-Lahad E, Hammerman C. Kaplan M, et al. Among authors: renbaum p. Pediatr Res. 2008 Jan;63(1):109-11. doi: 10.1203/PDR.0b013e31815b8e7e. Pediatr Res. 2008. PMID: 18043502

8

PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis.

Altarescu G, Eldar Geva T, Brooks B, Margalioth E, Levy-Lahad E, Renbaum P. Altarescu G, et al. Among authors: renbaum p. Prenat Diagn. 2008 Oct;28(10):929-33. doi: 10.1002/pd.2070. Prenat Diagn. 2008. PMID: 18792920

9

Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue.

Ounallah-Saad H, Beeri R, Goshen I, Yirmiya R, Renbaum P, Levy-Lahad E. Ounallah-Saad H, et al. Among authors: renbaum p. Gene. 2009 Oct 15;446(2):81-9. doi: 10.1016/j.gene.2009.06.015. Epub 2009 Jun 30. Gene. 2009. PMID: 19573580

10

Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.

Altarescu G, Eldar-Geva T, Varshower I, Brooks B, Haran EZ, Margalioth EJ, Levy-Lahad E, Renbaum P. Altarescu G, et al. Among authors: renbaum p. Hum Reprod. 2009 Dec;24(12):3225-9. doi: 10.1093/humrep/dep293. Epub 2009 Aug 17. Hum Reprod. 2009. PMID: 19687056

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