Parvari R - Search Results

1

RFLPs for linkage analysis in families with glycogen storage disease type III.

Mishori-Dery A, Bashan N, Moses S, Hershkovitz E, Bao Y, Chen YT, Parvari R. Mishori-Dery A, et al. Among authors: parvari r. J Inherit Metab Dis. 1995;18(2):207-10. doi: 10.1007/BF00711768. J Inherit Metab Dis. 1995. PMID: 7564248 No abstract available.

2

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.

Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N. Parvari R, et al. J Inherit Metab Dis. 1995;18(1):21-7. doi: 10.1007/BF00711368. J Inherit Metab Dis. 1995. PMID: 7623438

3

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW. Parvari R, et al. Am J Med Genet. 1997 Oct 31;72(3):286-90. doi: 10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9332655

4

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. Parvari R, et al. Eur J Hum Genet. 1997 Sep-Oct;5(5):266-70. Eur J Hum Genet. 1997. PMID: 9412782

5

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Parvari R, Shen J, Hershkovitz E, Chen YT, Moses SW. Parvari R, et al. J Inherit Metab Dis. 1998 Apr;21(2):141-8. doi: 10.1023/a:1005343625756. J Inherit Metab Dis. 1998. PMID: 9584265

6

Glycogen storage disease type 1a in three siblings with the G270V mutation.

Parvari R, Isam J, Moses SW. Parvari R, et al. J Inherit Metab Dis. 1999 Apr;22(2):149-54. doi: 10.1023/a:1005445802822. J Inherit Metab Dis. 1999. PMID: 10234610

7

Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).

Parvari R, Hershkovitz E, Carmi R, Moses S. Parvari R, et al. Prenat Diagn. 1996 Sep;16(9):862-5. doi: 10.1002/(SICI)1097-0223(199609)16:9<862::AID-PD954>3.0.CO;2-9. Prenat Diagn. 1996. PMID: 8905902

8

Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.

Parvari R, Lei KJ, Szonyi L, Narkis G, Moses S, Chou JY. Parvari R, et al. Eur J Hum Genet. 1997 Jul-Aug;5(4):191-5. Eur J Hum Genet. 1997. PMID: 9359038

9

Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R. Shatzky S, et al. Among authors: parvari r. Am J Med Genet. 2000 Jun 19;92(5):353-60. doi: 10.1002/1096-8628(20000619)92:5<353::aid-ajmg12>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10861667

10

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.

Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E. Parvari R, et al. Am J Hum Genet. 2001 Oct;69(4):869-75. doi: 10.1086/323624. Epub 2001 Aug 24. Am J Hum Genet. 2001. PMID: 11524703 Free PMC article.

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