Maslen CL - Search Results

1

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

Maslen CL, Babcock D, Illingworth DR. Maslen CL, et al. J Inherit Metab Dis. 1995;18(5):620-3. doi: 10.1007/BF02436008. J Inherit Metab Dis. 1995. PMID: 8598644

2

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

Babcock D, Gasner C, Francke U, Maslen C. Babcock D, et al. Hum Genet. 1998 Jul;103(1):22-8. doi: 10.1007/s004390050777. Hum Genet. 1998. PMID: 9737771

3

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

Maslen C, Babcock D, Raghunath M, Steinmann B. Maslen C, et al. Am J Hum Genet. 1997 Jun;60(6):1389-98. doi: 10.1086/515472. Am J Hum Genet. 1997. PMID: 9199560 Free PMC article.

4

Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia.

O'Malley JP, Maslen CL, Illingworth DR. O'Malley JP, et al. Among authors: maslen cl. Circulation. 1998 May 12;97(18):1780-3. doi: 10.1161/01.cir.97.18.1780. Circulation. 1998. PMID: 9603531

5

Angiotensin-converting enzyme and cardiovascular disease risk.

O'Malley JP, Maslen CL, Illingworth DR. O'Malley JP, et al. Among authors: maslen cl. Curr Opin Lipidol. 1999 Oct;10(5):407-15. doi: 10.1097/00041433-199910000-00005. Curr Opin Lipidol. 1999. PMID: 10554703 Review.

6

Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.

Kölble N, Wisser J, Babcock D, Maslen C, Huch R, Steinmann B. Kölble N, et al. Ultrasound Obstet Gynecol. 2002 Oct;20(4):395-9. doi: 10.1046/j.1469-0705.2002.00819.x. Ultrasound Obstet Gynecol. 2002. PMID: 12383326 Free article.

7

A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.

Battaile KP, Maslen CL, Wassif CA, Krakowiak P, Porter FD, Steiner RD. Battaile KP, et al. Among authors: maslen cl. Genet Test. 1999;3(4):361-3. doi: 10.1089/gte.1999.3.361. Genet Test. 1999. PMID: 10627944

8

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD. Battaile KP, et al. Among authors: maslen cl. Mol Genet Metab. 2001 Jan;72(1):67-71. doi: 10.1006/mgme.2000.3103. Mol Genet Metab. 2001. PMID: 11161831

9

The molecular basis of Marfan syndrome.

Maslen CL, Glanville RW. Maslen CL, et al. DNA Cell Biol. 1993 Sep;12(7):561-72. doi: 10.1089/dna.1993.12.561. DNA Cell Biol. 1993. PMID: 8397814 Review.

10

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD. Ginat S, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):175-83. doi: 10.1016/j.ymgme.2004.07.002. Mol Genet Metab. 2004. PMID: 15464432

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