Sabbagh Y - Search Results

1

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y. Sarafrazi S, et al. Among authors: sabbagh y. Hum Mutat. 2022 Feb;43(2):143-157. doi: 10.1002/humu.24296. Epub 2021 Dec 5. Hum Mutat. 2022. PMID: 34806794 Free PMC article.

2

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.

Sabbagh Y, Jones AO, Tenenhouse HS. Sabbagh Y, et al. Hum Mutat. 2000;16(1):1-6. doi: 10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10874297

3

Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes.

Sabbagh Y, Carpenter TO, Demay MB. Sabbagh Y, et al. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9637-42. doi: 10.1073/pnas.0502249102. Epub 2005 Jun 23. Proc Natl Acad Sci U S A. 2005. PMID: 15976027 Free PMC article.

4

Calcium and vitamin D: what is known about the effects on growing bone.

Demay MB, Sabbagh Y, Carpenter TO. Demay MB, et al. Among authors: sabbagh y. Pediatrics. 2007 Mar;119 Suppl 2:S141-4. doi: 10.1542/peds.2006-2023F. Pediatrics. 2007. PMID: 17332234

5

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.

Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse HS. Sabbagh Y, et al. Hum Mol Genet. 2001 Jul 15;10(15):1539-46. doi: 10.1093/hmg/10.15.1539. Hum Mol Genet. 2001. PMID: 11468271

6

INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.

Cheng Z, O'Brien K, Howe J, Sullivan C, Schrier D, Lynch A, Jungles S, Sabbagh Y, Thompson D. Cheng Z, et al. Among authors: sabbagh y. J Bone Miner Res. 2021 Aug;36(8):1594-1604. doi: 10.1002/jbmr.4315. Epub 2021 May 5. J Bone Miner Res. 2021. PMID: 33900645 Free article.

7

Ontogeny of Phex/PHEX protein expression in mouse embryo and subcellular localization in osteoblasts.

Thompson DL, Sabbagh Y, Tenenhouse HS, Roche PC, Drezner MK, Salisbury JL, Grande JP, Poeschla EM, Kumar R. Thompson DL, et al. Among authors: sabbagh y. J Bone Miner Res. 2002 Feb;17(2):311-20. doi: 10.1359/jbmr.2002.17.2.311. J Bone Miner Res. 2002. PMID: 11811562 Free article.

8

The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex.

Sabbagh Y, Gauthier C, Tenenhouse HS. Sabbagh Y, et al. Cytogenet Genome Res. 2002;99(1-4):344-9. doi: 10.1159/000071613. Cytogenet Genome Res. 2002. PMID: 12900584

9

Structure and function of disease-causing missense mutations in the PHEX gene.

Sabbagh Y, Boileau G, Campos M, Carmona AK, Tenenhouse HS. Sabbagh Y, et al. J Clin Endocrinol Metab. 2003 May;88(5):2213-22. doi: 10.1210/jc.2002-021809. J Clin Endocrinol Metab. 2003. PMID: 12727977

10

Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders.

Tenenhouse HS, Sabbagh Y. Tenenhouse HS, et al. Among authors: sabbagh y. Pflugers Arch. 2002 Jun;444(3):317-26. doi: 10.1007/s00424-002-0839-4. Epub 2002 Apr 23. Pflugers Arch. 2002. PMID: 12111239 Review.

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