Northrup H - Search Results

1

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. Shapira SK, et al. Among authors: northrup h. Am J Hum Genet. 1997 Sep;61(3):642-50. doi: 10.1086/515520. Am J Hum Genet. 1997. PMID: 9326330 Free PMC article.

2

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E Jr, Daiger SP, Blanton SH. Northrup H, et al. Am J Hum Genet. 1992 Oct;51(4):709-20. Am J Hum Genet. 1992. PMID: 1415216 Free PMC article.

3

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Greenberg F, Elder FF, Haffner P, Northrup H, Ledbetter DH. Greenberg F, et al. Among authors: northrup h. Am J Hum Genet. 1988 Nov;43(5):605-11. Am J Hum Genet. 1988. PMID: 3189331 Free PMC article.

4

A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).

Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, et al. Hou J, et al. Among authors: northrup h. Genomics. 1995 Sep 1;29(1):87-97. doi: 10.1006/geno.1995.1218. Genomics. 1995. PMID: 8530105

5

Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.

McKenney RR, Elder FF, Garcia J, Northrup H. McKenney RR, et al. Among authors: northrup h. Am J Med Genet. 1996 Dec 30;66(4):449-52. doi: 10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8989466

6

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

Au KS, Rodriguez JA, Rodriguez E Jr, Dobyns WB, Delgado MR, Northrup H. Au KS, et al. Among authors: northrup h. Hum Mutat. 1997;9(1):23-9. doi: 10.1002/(SICI)1098-1004(1997)9:1<23::AID-HUMU4>3.0.CO;2-Q. Hum Mutat. 1997. PMID: 8990004

7

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H. Au KS, et al. Among authors: northrup h. Am J Hum Genet. 1998 Feb;62(2):286-94. doi: 10.1086/301705. Am J Hum Genet. 1998. PMID: 9463313 Free PMC article.

8

Germ-line mosaicism in tuberous sclerosis: how common?

Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H. Rose VM, et al. Among authors: northrup h. Am J Hum Genet. 1999 Apr;64(4):986-92. doi: 10.1086/302322. Am J Hum Genet. 1999. PMID: 10090883 Free PMC article.

9

Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.

Plotner PL, Smith JL, Northrup H. Plotner PL, et al. Among authors: northrup h. Am J Med Genet. 2002 Jul 22;111(1):71-5. doi: 10.1002/ajmg.10420. Am J Med Genet. 2002. PMID: 12124739 Review.

10

Deletion 12q: a second patient with 12q24.31q24.32 deletion.

Plotner PL, Smith JL, Northrup H. Plotner PL, et al. Among authors: northrup h. Am J Med Genet A. 2003 May 1;118A(4):350-2. doi: 10.1002/ajmg.a.10232. Am J Med Genet A. 2003. PMID: 12687666

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