Bao Y - 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: bao y. J Inherit Metab Dis. 1995;18(2):207-10. doi: 10.1007/BF00711768. J Inherit Metab Dis. 1995. PMID: 7564248 No abstract available.

2

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT. Yang BZ, et al. Among authors: bao y. J Biol Chem. 1992 May 5;267(13):9294-9. J Biol Chem. 1992. PMID: 1374391 Free article.

3

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao Y, Kishnani P, Wu JY, Chen YT. Bao Y, et al. J Clin Invest. 1996 Feb 15;97(4):941-8. doi: 10.1172/JCI118517. J Clin Invest. 1996. PMID: 8613547 Free PMC article.

4

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT. Shen J, et al. Among authors: bao y. J Clin Invest. 1996 Jul 15;98(2):352-7. doi: 10.1172/JCI118799. J Clin Invest. 1996. PMID: 8755644 Free PMC article.

5

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.

Bao Y, Dawson TL Jr, Chen YT. Bao Y, et al. Genomics. 1996 Dec 1;38(2):155-65. doi: 10.1006/geno.1996.0611. Genomics. 1996. PMID: 8954797

6

A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.

Shen J, Bao Y, Chen YT. Shen J, et al. Among authors: bao y. Hum Mutat. 1997;9(1):37-40. doi: 10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M. Hum Mutat. 1997. PMID: 8990006

7

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

Shen J, Liu HM, Bao Y, Chen YT. Shen J, et al. Among authors: bao y. J Med Genet. 1997 Jan;34(1):34-8. doi: 10.1136/jmg.34.1.34. J Med Genet. 1997. PMID: 9032647 Free PMC article. Clinical Trial.

8

Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.

Kishnani PS, Bao Y, Wu JY, Brix AE, Lin JL, Chen YT. Kishnani PS, et al. Among authors: bao y. Biochem Mol Med. 1997 Aug;61(2):168-77. doi: 10.1006/bmme.1997.2600. Biochem Mol Med. 1997. PMID: 9259982

9

Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.

Bao Y, Yang BZ, Dawson TL Jr, Chen YT. Bao Y, et al. Gene. 1997 Sep 15;197(1-2):389-98. doi: 10.1016/s0378-1119(97)00291-6. Gene. 1997. PMID: 9332391

10

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Ding JH, Yang BZ, Bao Y, Roe CR, Chen YT. Ding JH, et al. Among authors: bao y. Am J Hum Genet. 1992 Jan;50(1):229-33. Am J Hum Genet. 1992. PMID: 1729890 Free PMC article.

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