Carmi R - Search Results

1

Refined genetic mapping of X-linked thoracoabdominal syndrome.

Parvari R, Carmi R, Weissenbach J, Pilia G, Mumm S, Weinstein Y. Parvari R, et al. Among authors: carmi r. Am J Med Genet. 1996 Feb 2;61(4):401-2. doi: 10.1002/(SICI)1096-8628(19960202)61:4<401::AID-AJMG18>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8834056 No abstract available.

2

Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26.

Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R. Parvari R, et al. Among authors: carmi r. Am J Med Genet. 1994 Feb 15;49(4):431-4. doi: 10.1002/ajmg.1320490416. Am J Med Genet. 1994. PMID: 7909197

3

Mapping of an X-linked gene for ventral midline defects (the TAS gene).

Carmi R, Parvari R, Ehrlich S, Cwikel B, Weinstein Y. Carmi R, et al. Birth Defects Orig Artic Ser. 1996;30(1):179-87. Birth Defects Orig Artic Ser. 1996. PMID: 9125327 No abstract available.

4

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

Parvari R, Mumm S, Galil A, Manor E, Bar-David Y, Carmi R. Parvari R, et al. Among authors: carmi r. Am J Med Genet. 1999 Apr 2;83(4):302-7. doi: 10.1002/(sici)1096-8628(19990402)83:4<302::aid-ajmg13>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10208166

5

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, Sheffield VC, Carmi R. Parvari R, et al. Among authors: carmi r. Am J Hum Genet. 1998 Jul;63(1):163-9. doi: 10.1086/301915. Am J Hum Genet. 1998. PMID: 9634513 Free PMC article.

6

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC. Kwitek-Black AE, et al. Among authors: carmi r. Nat Genet. 1993 Dec;5(4):392-6. doi: 10.1038/ng1293-392. Nat Genet. 1993. PMID: 8298649

7

Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

Leiberman E, Pesler D, Parvari R, Elbedour K, Abdul-Latif H, Brown MR, Parks JS, Carmi R. Leiberman E, et al. Among authors: carmi r. Am J Med Genet. 2000 Jan 31;90(3):188-92. Am J Med Genet. 2000. PMID: 10678654

8

The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder.

Carmi R, Barbash A, Mares AJ. Carmi R, et al. Am J Med Genet. 1990 May;36(1):109-14. doi: 10.1002/ajmg.1320360122. Am J Med Genet. 1990. PMID: 2139758

9

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. Among authors: carmi r. 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

10

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. Among authors: carmi r. J Inherit Metab Dis. 1995;18(1):21-7. doi: 10.1007/BF00711368. J Inherit Metab Dis. 1995. PMID: 7623438

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