Published in J Med Genet on August 01, 1987
Anonymous DNA probes to human chromosome 16 derived from a flow-purified library. Am J Hum Genet (1988) 0.94
Adult polycystic kidney disease. J Med Genet (1987) 0.75
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
Report of the Committee on the Genetic Constitution of Chromosomes 13, 14, 15 and 16. Cytogenet Cell Genet (1985) 6.87
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
A mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet (1986) 3.92
Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci U S A (1986) 2.26
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
Isolation and sequence of a rat chymotrypsin B gene. J Biol Chem (1984) 1.61
Alpha-thalassemia. Curr Top Hematol (1983) 1.60
Exclusion mapping illustrated by the MNSs blood group. Ann Hum Genet (1980) 1.29
Human metallothionein genes are clustered on chromosome 16. Proc Natl Acad Sci U S A (1984) 1.23
Metallothionein gene cluster is split by chromosome 16 rearrangements in myelomonocytic leukaemia. Nature (1985) 1.10
A highly polymorphic locus on chromosome 16q revealed by a probe from a chromosome-specific cosmid library. Hum Genet (1986) 1.07
The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes. Blood (1984) 1.04
The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case. Br J Haematol (1984) 1.01
Localization of the human haptoglobin genes distal to the fragile site at 16q22 using in situ hybridization. Cytogenet Cell Genet (1986) 0.97
New regional localisations for HAGH and PGP on human chromosome 16. Hum Genet (1986) 0.86
A study of genetic linkage heterogeneity in adult polycystic kidney disease. Trans Assoc Am Physicians (1986) 0.86
Hemoglobin H disease and multiple congenital anomalies in a child of northern European origin. Am J Hematol (1982) 0.82
Localization of the haptoglobin alpha and beta genes (HPA and HPB) to human chromosome 16q22 by in situ hybridization. Cytogenet Cell Genet (1984) 0.81
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91
Fragile X genotype characterized by an unstable region of DNA. Science (1991) 4.33
A mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet (1986) 3.92
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet (2001) 3.83
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet (1998) 3.24
Incidence and origin of "null" alleles in the (AC)n microsatellite markers. Am J Hum Genet (1993) 3.18
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (1995) 3.15
PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet (1998) 2.52
Cytokine production by normal human monocytes: inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism. Clin Exp Immunol (1995) 2.36
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet (1996) 2.36
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet (1997) 2.22
Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X. Hum Genet (1989) 2.10
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.01
Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16. Genomics (1992) 2.00
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy. Neurology (2004) 1.98
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers. Am J Hum Genet (1991) 1.95
Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum Genet (1989) 1.95
A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) Am J Med Genet (1988) 1.88
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet (1995) 1.86
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med (1991) 1.83
Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J Med Genet (1990) 1.83
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet (1999) 1.80
Molecular genetic evidence for heterogeneity in manic depression. Nature (1987) 1.76
Explanation for exclusive maternal origin for congenital form of myotonic dystrophy. Lancet (1993) 1.72
Mapping the short arm of human chromosome 16. Genomics (1989) 1.69
Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet (1996) 1.61
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology (2003) 1.61
Genetic mapping of new RFLPs at Xq27-q28. Genomics (1991) 1.60
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. Am J Med Genet (1997) 1.56
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics (1988) 1.55
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet (1994) 1.51
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science (1994) 1.51
At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes Cancer (1994) 1.50
Large hepatic mitochondrial DNA deletions associated with L-lactic acidosis and highly active antiretroviral therapy. AIDS (2001) 1.49
The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families. Clin Endocrinol (Oxf) (1996) 1.47
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Neurology (2007) 1.44
Dinucleotide repeat polymorphisms at the D16S164, D16S168 and D16S186 loci at 16q21-q22.1. Nucleic Acids Res (1991) 1.42
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. Am J Hum Genet (1991) 1.38
Mutant p53 drives invasion in breast tumors through up-regulation of miR-155. Oncogene (2012) 1.36
Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16. Ann Hum Genet (1998) 1.34
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. J Med Genet (2002) 1.32
Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem (2001) 1.30
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics (1990) 1.30
A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14. Am J Med Genet (1988) 1.29
A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23)(FRA16D) loci. Cytogenet Cell Genet (1986) 1.29
Excess thymidine induces folate sensitive fragile sites. Am J Med Genet (1985) 1.29
Allele loss on chromosome 16q24.2-qter occurs frequently in breast cancers irrespectively of differences in phenotype and extent of spread. Cancer Res (1994) 1.27
Allozyme genotype--environment relationships in natural populations of Drosophila buzzatii. Biochem Genet (1979) 1.27
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet (1996) 1.26
A polygenic heterogeneity model for common epilepsies with complex genetics. Genes Brain Behav (2007) 1.25
Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions. Cancer Res (2001) 1.23
De novo SCN1A mutations in migrating partial seizures of infancy. Neurology (2011) 1.23
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology (2002) 1.21
LGI1 mutations in temporal lobe epilepsies. Neurology (2004) 1.21
Genotype-phenotype relationships in fragile X syndrome: a family study. Am J Hum Genet (1993) 1.18
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. Genomics (1993) 1.16
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet (1995) 1.16
Reduced genetic load revealed by slow inbreeding in Drosophila melanogaster. Genetics (1995) 1.16
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics (1997) 1.15
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet (2000) 1.15
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. Hum Genet (1991) 1.15
Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Genomics (2001) 1.13
Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D16S320. Hum Mol Genet (1992) 1.12
Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. J Med Genet (1989) 1.12
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.12
Dinucleotide repeat polymorphism at D16S287. Nucleic Acids Res (1991) 1.11
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet (1993) 1.11
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia. Am J Hum Genet (1988) 1.11
How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet (1996) 1.10
Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences. Hum Genet (1987) 1.08
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum Genet (2001) 1.07
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3. Br J Cancer (1999) 1.06
An RFLP associated with the human type III collagen gene (COL3A1). Nucleic Acids Res (1985) 1.05
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol (1998) 1.05
Interleukin 4 is at 5q31 and interleukin 6 is at 7p15. Hum Genet (1988) 1.05
The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics (1997) 1.05
Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14. Am J Med Genet (1987) 1.05
Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. Genomics (1997) 1.05
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. Am J Hum Genet (1990) 1.05
Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11. Oncogene (2011) 1.05
Genetic adaptation to captivity and inbreeding depression in small laboratory populations of Drosophila melanogaster. Genetics (1995) 1.04