Knoll JH - Search Results

1

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR. Mundlos S, et al. Among authors: knoll jh. Hum Mol Genet. 1995 Jan;4(1):71-5. doi: 10.1093/hmg/4.1.71. Hum Mol Genet. 1995. PMID: 7711736

2

The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4.

Warman ML, McCarthy MT, Perälä M, Vuorio E, Knoll JH, McDaniels CN, Mayne R, Beier DR, Olsen BR. Warman ML, et al. Among authors: knoll jh. Genomics. 1994 Sep 1;23(1):158-62. doi: 10.1006/geno.1994.1472. Genomics. 1994. PMID: 7829066

3

Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21.

Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR. Oh SP, et al. Among authors: knoll jh. Genomics. 1994 Feb;19(3):494-9. doi: 10.1006/geno.1994.1098. Genomics. 1994. PMID: 8188291

4

Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1).

Warman ML, Tiller GE, Polumbo PA, Seldin MF, Rochelle JM, Knoll JH, Cheng SD, Olsen BR. Warman ML, et al. Among authors: knoll jh. Genomics. 1993 Sep;17(3):694-8. doi: 10.1006/geno.1993.1391. Genomics. 1993. PMID: 8244386

5

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mundlos S, et al. Among authors: knoll jh. Cell. 1997 May 30;89(5):773-9. doi: 10.1016/s0092-8674(00)80260-3. Cell. 1997. PMID: 9182765 Free article.

6

Physical and linkage mapping of the gene for the alpha3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3.

Tiller GE, Warman ML, Gong Y, Knoll JH, Mayne R, Brewton RG. Tiller GE, et al. Among authors: knoll jh. Cytogenet Cell Genet. 1998;81(3-4):205-7. doi: 10.1159/000015031. Cytogenet Cell Genet. 1998. PMID: 9730604

7

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.

Knoll JH, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM, Wingrove P, Sikela JM, Lalande M. Knoll JH, et al. Hum Mol Genet. 1993 Feb;2(2):183-9. doi: 10.1093/hmg/2.2.183. Hum Mol Genet. 1993. PMID: 8388764

8

Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13.

Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, Champliaud MF, Olsen BR, Burgeson RE. Gerecke DR, et al. Among authors: knoll jh. Genomics. 1997 Apr 15;41(2):236-42. doi: 10.1006/geno.1997.4638. Genomics. 1997. PMID: 9143499

9

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH. Engle EC, et al. Among authors: knoll jh. Am J Hum Genet. 1997 May;60(5):1150-7. Am J Hum Genet. 1997. PMID: 9150162 Free PMC article.

10

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.

Knoll JH, Glatt KA, Nicholls RD, Malcolm S, Lalande M. Knoll JH, et al. Am J Hum Genet. 1991 Jan;48(1):16-21. Am J Hum Genet. 1991. PMID: 1985457 Free PMC article.

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