5 P30 HD28822/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1993	1
1994	1
1995	3
1996	2
1997	11
1998	7
1999	9
2000	8
2001	13
2002	6
2003	4
2004	3
2005	1
2009	1
2010	1
2024	0

1

Desnick RJ. Desnick RJ. J Inherit Metab Dis. 2001 Apr;24(2):251-65. doi: 10.1023/a:1010331404448. J Inherit Metab Dis. 2001. PMID: 11405344 Review.

2

Molecular genetics of congenital erythropoietic porphyria.

Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Desnick RJ, et al. Semin Liver Dis. 1998;18(1):77-84. doi: 10.1055/s-2007-1007143. Semin Liver Dis. 1998. PMID: 9516681 Review.

3

Future perspectives for Tay-Sachs disease.

Desnick RJ, Kaback MM. Desnick RJ, et al. Adv Genet. 2001;44:349-56. doi: 10.1016/s0065-2660(01)44091-0. Adv Genet. 2001. PMID: 11596996 Review. No abstract available.

4

Enzyme replacement therapy for Fabry disease, an inherited nephropathy.

Desnick RJ, Banikazemi M, Wasserstein M. Desnick RJ, et al. Clin Nephrol. 2002 Jan;57(1):1-8. doi: 10.5414/cnp57001. Clin Nephrol. 2002. PMID: 11837797 Review.

5

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Ashley GA, et al. J Hum Genet. 2001;46(4):192-6. doi: 10.1007/s100380170088. J Hum Genet. 2001. PMID: 11322659 Review.

6

Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement.

Hermann G, Pastores GM, Abdelwahab IF, Lorberboym AM. Hermann G, et al. Skeletal Radiol. 1997 Dec;26(12):687-96. doi: 10.1007/s002560050313. Skeletal Radiol. 1997. PMID: 9453101 Review.

7

Kruppel-like factor 6 (KLF6) is a tumor-suppressor gene frequently inactivated in colorectal cancer.

Reeves HL, Narla G, Ogunbiyi O, Haq AI, Katz A, Benzeno S, Hod E, Harpaz N, Goldberg S, Tal-Kremer S, Eng FJ, Arthur MJ, Martignetti JA, Friedman SL. Reeves HL, et al. Gastroenterology. 2004 Apr;126(4):1090-103. doi: 10.1053/j.gastro.2004.01.005. Gastroenterology. 2004. PMID: 15057748

8

Prenatal genetic screening in the Ashkenazi Jewish population.

Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Zinberg RE, et al. Clin Perinatol. 2001 Jun;28(2):367-82. doi: 10.1016/s0095-5108(05)70089-0. Clin Perinatol. 2001. PMID: 11499058 Review.

9

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.

Astrin KH, Desnick RJ. Astrin KH, et al. Hum Mutat. 1994;4(4):243-52. doi: 10.1002/humu.1380040403. Hum Mutat. 1994. PMID: 7866402 Review.

10

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Glass RB, et al. J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68. doi: 10.1097/00004728-200403000-00002. J Comput Assist Tomogr. 2004. PMID: 15091117

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