Center for Medical Molecular Biology

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#	Title	Journal	Year	Citations
1	One short well conserved region ofAlu-sequences is involved in human gene rearrangements and has homology with prokaryoticchi	Nucleic Acids Research	1995	213
2	The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?	Human Molecular Genetics	1997	119
3	Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]	Human Molecular Genetics	1996	106
4	Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme	Journal of Biological Chemistry	1995	79
5	High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing	Clinical Chemistry	1996	67
6	Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene	FEBS Letters	1995	47
7	The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency	Journal of Inherited Metabolic Disease	1996	40
8	A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein	Atherosclerosis	1997	29
9	Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia	Human Mutation	1998	29
10	High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing	Clinical Chemistry	1996	27
11	Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia	Human Mutation	1994	25
12	The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II		1998	25
13	Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood	Prenatal Diagnosis	1995	24
14	Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells	Human Mutation	1995	21
15	Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase	Journal of Inherited Metabolic Disease	1995	20
16	Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia		1996	14
17	Characterization of Wild-Type Human Medium-Chain Acyl-CoA Dehydrogenase (MCAD) and Mutant Enzymes Present in MCAD-Deficient Patients by Two-Dimensional Gel Electrophoresis: Evidence for Posttranslational Modification of the Enzyme	Biochemical Medicine and Metabolic Biology	1994	12
18	An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants		1996	12
19	Impaired Folding and Subunit Assembly as Disease Mechanism: The Example of Medium-Chain acyl-CoA Dehydrogenase Deficiency	Progress in Molecular Biology and Translational Science	1997	12
20	Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele	Journal of Inherited Metabolic Disease	1994	11
21	Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population	Clinical Genetics	1996	11
22	Allele-specific measurement of low-density lipoprotein receptor transcript levels		1996	10
23	A G^‐1‐to‐A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia	Clinical Genetics	1996	9
24	An alanine²⁹‐serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia	Clinical Genetics	1994	7
25	An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia	Clinical Genetics	1996	6
26	Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease	Clinical Genetics	1995	4
27	Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA	Journal of Inherited Metabolic Disease	1994	2
28	Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low‐density lipoprotein receptor gene are associated with familial hypercholesterolemia	Human Mutation	1996	2
29	Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation	Clinical Genetics	1996	1
30	Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia	Human Mutation	1998	1

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