Published in Am J Hum Genet on April 01, 1988
Hydrogen sulfide as a gasotransmitter. J Neurochem (2010) 2.30
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet (1999) 1.48
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest (1996) 1.42
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis (2006) 1.42
Hydrogen sulfide and the vasculature: a novel vasculoprotective entity and regulator of nitric oxide bioavailability? J Cell Mol Med (2009) 1.38
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research. Am J Physiol Heart Circ Physiol (2010) 1.23
Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. Proc Natl Acad Sci U S A (1988) 1.00
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab (2010) 1.00
Oxidative Stress and Down Syndrome: A Route toward Alzheimer-Like Dementia. Curr Gerontol Geriatr Res (2011) 0.98
Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis (2003) 0.95
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract. J Cancer Res Clin Oncol (2007) 0.92
A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA. Am J Hum Genet (1996) 0.89
A contiguous Not I restriction map of band q22.3 of human chromosome 21. Proc Natl Acad Sci U S A (1992) 0.85
Isolation, characterization, and regional mapping of microclones from a human chromosome 21 microdissection library. Am J Hum Genet (1992) 0.83
Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. Am J Hum Genet (1988) 0.83
Overview of inherited metabolic disorders causing cardiovascular disease. J Inherit Metab Dis (2003) 0.82
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. Behav Brain Funct (2005) 0.82
Comparative map for mice and humans. Mamm Genome (1991) 0.81
Mouse chromosome 17. Mamm Genome (1992) 0.78
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation. Int Ophthalmol (2011) 0.78
Mouse chromosome 17. Mamm Genome (1991) 0.77
The use of mouse models for understanding the biology of down syndrome and aging. Curr Gerontol Geriatr Res (2012) 0.77
Correlation between cystathionine β-synthase T883C genetic polymorphism and primary hypertension. Exp Ther Med (2014) 0.75
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. Sci Rep (2015) 0.75
HNE-modified proteins in Down syndrome: Involvement in development of Alzheimer disease neuropathology. Free Radic Biol Med (2016) 0.75
Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization. Chromosoma (1981) 9.30
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59
Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis. J Clin Invest (1976) 3.04
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Humangenetik (1974) 2.55
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med (1985) 2.49
Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet (1975) 2.08
[Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1]. Exp Cell Res (1976) 2.07
Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Cytogenet Cell Genet (1977) 1.98
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
Receptors for human alpha and beta interferon but not for gamma interferon are specified by human chromosome 21. Proc Natl Acad Sci U S A (1984) 1.86
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. N Engl J Med (1975) 1.83
Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet (1977) 1.72
Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation. Somatic Cell Genet (1976) 1.68
Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans. Proc Natl Acad Sci U S A (1986) 1.67
Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc Natl Acad Sci U S A (1977) 1.62
Complete structure of the alpha B-crystallin gene: conservation of the exon-intron distribution in the two nonlinked alpha-crystallin genes. Proc Natl Acad Sci U S A (1985) 1.43
Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest (1978) 1.35
Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse. Proc Natl Acad Sci U S A (1979) 1.29
Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease. J Clin Invest (1986) 1.27
Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. Hum Genet (1986) 1.26
Confirmation of assignment of the human alpha 1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3. Hum Genet (1987) 1.25
Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and Southern blotting: high-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1. Somat Cell Mol Genet (1984) 1.22
Down syndrome due to partial trisomy 21q. Clin Genet (1977) 1.18
Cystathionine beta synthase: gene dosage effect in trisomy 21. Biochem Biophys Res Commun (1985) 1.15
Partial trisomy 21. Clin Genet (1973) 1.15
Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SOD-1) are linked in mouse and man and map to mouse chromosome 16. Proc Natl Acad Sci U S A (1980) 1.13
[Partial trisomy 21 (21q21 - 21q22.2)]. Ann Genet (1976) 1.12
Requirement of the human chromosome 11 long arm for replication of herpes simplex virus type 1 in nonpermissive Chinese hamster x human diploid fibroblast hybrids. Somatic Cell Genet (1981) 1.11
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother. J Med Genet (1980) 1.10
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet (1977) 1.08
Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality. Hum Genet (1987) 1.08
Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet (1984) 1.08
Comparative gene mapping of human chromosome 21 and mouse chromosome 16. Ann N Y Acad Sci (1985) 1.05
Genetic basis for a mouse model of Down syndrome. Brain Res Bull (1986) 1.04
Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess. Hum Genet (1982) 1.04
Mouse trisomy 16: an animal model of human trisomy 21 (Down syndrome). Ann N Y Acad Sci (1985) 1.02
Assignment of the gene for glyoxalase I to region p21 leads to pter of human chromosome 6. Cytogenet Cell Genet (1977) 1.00
[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)]. Ann Genet (1976) 1.00
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. Am J Med Genet (1987) 0.99
Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns. Hum Genet (1981) 0.98
Genetic mapping of Prm-1, Igl-1, Smst, Mtv-6, Sod-1, and Ets-2 and localization of the Down syndrome region on mouse chromosome 16. Cytogenet Cell Genet (1987) 0.94
The locus encoding alpha A-crystallin is closely linked to H-2K on mouse chromosome 17. Genetics (1985) 0.93
Normal phenotype and partial trisomy for the G positive region of chromosome 21. J Med Genet (1979) 0.89
Assignment of the gene for beta 2-microglobulin (B2m) to mouse chromosome 2. Proc Natl Acad Sci U S A (1982) 0.88
Assignment of a third purine biosynthetic gene (glycinamide ribonucleotide transformylase) to human chromosome 21. Am J Hum Genet (1986) 0.88
Evidence that Linkage Group IV as well as linkage Group X of the mouse are in chromosome 10. Genet Res (1975) 0.86
Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. Am J Hum Genet (1988) 0.83
Rare translocation 47,XY,t(12;21) in Down's syndrome. Hum Hered (1974) 0.82
Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation. J Med Genet (1982) 0.80
Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the Down syndrome. Am J Med Genet (1984) 0.80
Down syndrome with apparently normal chromosomes: an update. J Pediatr (1986) 0.79
SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214). Hum Genet (1981) 0.77
Comparative gene mapping: murine lambda light chain genes are located in region cen to B5 of mouse chromosome 16 not homologous to human chromosome 21. Cytogenet Cell Genet (1982) 0.77
Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21. Hum Genet (1984) 0.77
Linkage of the locus encoding the A chain of alpha-crystallin (Acry-1) to the major histocompatibility complex in the rat. Immunogenetics (1985) 0.76
[Partial trisomy 21 with 45 chromosomes due to translocation of two chromosomes 21 onto a chromosome 14 : 45,XX-14,-21,+t(14q21q21q) (author's transl)]. Ann Genet (1980) 0.76
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science (1984) 3.56
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet (1978) 3.13
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption. Proc Natl Acad Sci U S A (1982) 2.81
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet (1972) 2.45
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
Half chromatid mutations: transmission in humans? Am J Hum Genet (1975) 2.38
A regular pattern of two types of 100-residue motif in the sequence of titin. Nature (1990) 2.29
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics (1997) 2.28
Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J Exp Med (1995) 2.24
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics (1988) 2.21
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J (1986) 2.19
Conservation of autosomal gene synteny groups in mouse and man. Nature (1978) 2.18
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet (1998) 2.16
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Proc Natl Acad Sci U S A (1997) 2.15
The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum Genet (1981) 2.14
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol (1998) 2.13
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Genomics (1988) 2.12
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J (2001) 2.12
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Immunity (1998) 2.11
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.08
Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. Am J Hum Genet (1982) 2.03
The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. Cell (1997) 2.02
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Cytogenet Cell Genet (1977) 1.98
Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor. Nature (1984) 1.97
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet (1994) 1.97
A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. Proc Natl Acad Sci U S A (1991) 1.97
Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat (1999) 1.96
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science (1984) 1.96
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A (1986) 1.94
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet (1992) 1.93
NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity. J Biol Chem (1995) 1.91
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet (1998) 1.90
Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc Natl Acad Sci U S A (1984) 1.86
Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry (2001) 1.85
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A (1986) 1.84
Developmental and transformation-sensitive expression of the Sparc gene on mouse chromosome 11. EMBO J (1986) 1.83
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet (1988) 1.80
The structural gene for the M1 subunit of ribonucleotide reductase maps to chromosome 11, band p15, in human and to chromosome 7 in mouse. Exp Cell Res (1988) 1.80
Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. Am J Hum Genet (2000) 1.80
Molecular cloning of human ornithine aminotransferase mRNA. Proc Natl Acad Sci U S A (1986) 1.75
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet (1987) 1.72
Report of the committee on human gene mapping by recombinant DNA techniques. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet (1982) 1.71
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med (1987) 1.70
Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation. Somatic Cell Genet (1976) 1.68
Rat cystathionine beta-synthase. Gene organization and alternative splicing. J Biol Chem (1992) 1.67
Karyotypic, virologic, and immunologic analyses of two continuous lymphocyte lines established from New Zealand black mice: possible relationship of chromosomal mosaicism to autoimmunity. Proc Natl Acad Sci U S A (1972) 1.65
Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. Am J Hum Genet (1986) 1.64
Two main groups of mouse major urinary protein genes, both largely located on chromosome 4. EMBO J (1982) 1.63
Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc Natl Acad Sci U S A (1977) 1.62
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. Am J Hum Genet (2000) 1.62
Diffuse polyclonal B-cell lymphoma during primary infection with Epstein-Barr virus. N Engl J Med (1980) 1.61
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet (1999) 1.61
Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences. Arch Biochem Biophys (1998) 1.60
Oncogene from human EJ bladder carcinoma is located on the short arm of chromosome 11. Science (1983) 1.58
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet (1992) 1.57
Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein. J Biol Chem (1994) 1.57
Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). Nucleic Acids Res (1989) 1.57
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet (1999) 1.56
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. J Biol Chem (1989) 1.54
A structural homologue of the N-formyl peptide receptor. Characterization and chromosome mapping of a peptide chemoattractant receptor family. J Biol Chem (1992) 1.53
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat Genet (1997) 1.53
Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. Proc Natl Acad Sci U S A (1980) 1.52