Gelb BD - Search Results

1

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.

Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. Odgis JA, et al. Among authors: gelb bd. Trials. 2021 Jan 14;22(1):56. doi: 10.1186/s13063-020-04953-4. Trials. 2021. PMID: 33446240 Free PMC article.

2

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

Diaz GA, Khan KT, Gelb BD. Diaz GA, et al. Among authors: gelb bd. Genomics. 1998 Nov 15;54(1):13-8. doi: 10.1006/geno.1998.5530. Genomics. 1998. PMID: 9806825

3

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

Satoda M, Pierpont ME, Diaz GA, Bornemeier RA, Gelb BD. Satoda M, et al. Among authors: gelb bd. Circulation. 1999 Jun 15;99(23):3036-42. doi: 10.1161/01.cir.99.23.3036. Circulation. 1999. PMID: 10368122

4

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M. Diaz GA, et al. Among authors: gelb bd. Am J Med Genet. 1999 Jul 2;85(1):48-52. doi: 10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1999. PMID: 10377012

5

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Diaz GA, et al. Among authors: gelb bd. Nat Genet. 1999 Jul;22(3):309-12. doi: 10.1038/10385. Nat Genet. 1999. PMID: 10391223

6

Impact of the reduced folate carrier on the accumulation of active thiamin metabolites in murine leukemia cells.

Zhao R, Gao F, Wang Y, Diaz GA, Gelb BD, Goldman ID. Zhao R, et al. Among authors: gelb bd. J Biol Chem. 2001 Jan 12;276(2):1114-8. doi: 10.1074/jbc.M007919200. J Biol Chem. 2001. PMID: 11038362 Free article.

7

Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.

Oishi K, Hirai T, Gelb BD, Diaz GA. Oishi K, et al. Among authors: gelb bd. Mol Genet Metab. 2001 Jun;73(2):149-59. doi: 10.1006/mgme.2001.3184. Mol Genet Metab. 2001. PMID: 11386850

8

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, Gelb BD. Oishi K, et al. Among authors: gelb bd. Hum Mol Genet. 2002 Nov 1;11(23):2951-60. doi: 10.1093/hmg/11.23.2951. Hum Mol Genet. 2002. PMID: 12393806

9

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.

Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. Oishi K, et al. Among authors: gelb bd. Dev Biol. 2004 Feb 15;266(2):299-309. doi: 10.1016/j.ydbio.2003.10.026. Dev Biol. 2004. PMID: 14738878 Free article.

10

Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.

Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA. Au AC, et al. Among authors: gelb bd. Am J Hum Genet. 2010 Sep 10;87(3):436-44. doi: 10.1016/j.ajhg.2010.08.008. Am J Hum Genet. 2010. PMID: 20826270 Free PMC article.

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