Jackson L - Search Results

1

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Rose NC, et al. Among authors: jackson l. Am J Med Genet. 1992 Mar 1;42(5):700-5. doi: 10.1002/ajmg.1320420515. Am J Med Genet. 1992. PMID: 1632442

2

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Wallerstein R, Anderson CE, Hay B, Gupta P, Gibas L, Ansari K, Cowchock FS, Weinblatt V, Reid C, Levitas A, Jackson L. Wallerstein R, et al. Among authors: jackson l. J Med Genet. 1997 Mar;34(3):203-6. doi: 10.1136/jmg.34.3.203. J Med Genet. 1997. PMID: 9132490 Free PMC article.

3

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. DeScipio C, et al. Am J Med Genet A. 2005 Sep 1;137A(3):276-82. doi: 10.1002/ajmg.a.30857. Am J Med Genet A. 2005. PMID: 16075459 Free PMC article. Review.

4

Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.

Anderson CE, Wallerstein R, Zamerowski ST, Witzleben C, Hoyer JR, Gibas L, Jackson LG. Anderson CE, et al. Among authors: jackson lg. Am J Med Genet. 1997 Oct 31;72(3):281-5. Am J Med Genet. 1997. PMID: 9332654

5

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L. Krantz ID, et al. Among authors: jackson l. Am J Med Genet. 2001 Jun 15;101(2):120-9. Am J Med Genet. 2001. PMID: 11391654 Free PMC article.

6

Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization.

Mewar R, Kline AD, Jackson L, Overhauser J. Mewar R, et al. Among authors: jackson l. Am J Med Genet. 1992 Nov 1;44(4):477-81. doi: 10.1002/ajmg.1320440418. Am J Med Genet. 1992. PMID: 1442891

7

Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability.

Wallerstein R, Kacmar J, Anderson CE, Jackson L. Wallerstein R, et al. Among authors: jackson l. Am J Med Genet. 1997 Jan 20;68(2):216-8. Am J Med Genet. 1997. PMID: 9028461

8

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.

9

de Lange syndrome: a clinical review of 310 individuals.

Jackson L, Kline AD, Barr MA, Koch S. Jackson L, et al. Am J Med Genet. 1993 Nov 15;47(7):940-6. doi: 10.1002/ajmg.1320470703. Am J Med Genet. 1993. PMID: 8291537

10

Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia.

Gibas Z, Gibas LM, Filomena CA, Sprandio J, Jackson LG. Gibas Z, et al. Among authors: jackson lg. Cancer Genet Cytogenet. 1988 Oct 15;35(2):237-42. doi: 10.1016/0165-4608(88)90246-4. Cancer Genet Cytogenet. 1988. PMID: 3180025

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