Published in Clin Genet on January 01, 1990
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers. Am J Hum Genet (1991) 1.95
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
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
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet (2001) 3.83
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
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
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.01
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
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
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet (1999) 1.80
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
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics (1988) 1.55
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
Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem (2001) 1.30
A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14. Am J Med Genet (1988) 1.29
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
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
Reduced genetic load revealed by slow inbreeding in Drosophila melanogaster. Genetics (1995) 1.16
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
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet (2000) 1.15
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
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
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol (1998) 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
Genetic adaptation to captivity and inbreeding depression in small laboratory populations of Drosophila melanogaster. Genetics (1995) 1.04
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics (2000) 1.03
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. Neuroscience (2007) 1.02
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics (1999) 1.01
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. J Med Genet (2004) 1.01
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain Dev (2001) 1.00
Assignment of the gene for central core disease to chromosome 19. Hum Genet (1990) 1.00
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet (1998) 1.00
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology (2002) 0.99
Fragile X syndrome and fragile XE mental retardation. Prenat Diagn (1996) 0.98
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet (2007) 0.97
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology (2006) 0.96
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. Am J Med Genet (1988) 0.94
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet (1992) 0.94
Deafness due to Pro250Arg mutation of FGFR3. Lancet (1998) 0.93
A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol (2000) 0.93
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am J Hum Genet (1995) 0.92
A linkage map of microsatellite markers on the human X chromosome. Genomics (1994) 0.92
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. Hum Mol Genet (1992) 0.92
X-linked mental retardation with dystonic movements of the hands. Am J Med Genet (1988) 0.91
FMR2 expression in families with FRAXE mental retardation. Hum Mol Genet (1997) 0.90
Genetic length of a human chromosomal segment measured by recombination between two fragile sites. Science (1982) 0.90
Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. Am J Med Genet (1999) 0.89
The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies. Neurosci Lett (2009) 0.89
Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type. Am J Med Genet (1984) 0.89
Mapping the human alpha globin gene complex to 16p13.2----pter. J Med Genet (1987) 0.89
Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome. Am J Med Genet (1996) 0.88
Localization of craniosynostosis Adelaide type to 4p16. Hum Mol Genet (1995) 0.88
A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics (1992) 0.86
New regional localisations for HAGH and PGP on human chromosome 16. Hum Genet (1986) 0.86
Mutation detection in FGFR2 craniosynostosis syndromes. Hum Genet (1997) 0.86
Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis. Am J Med Genet (1994) 0.85
Molecular genetics of human chromosome 16. J Med Genet (1987) 0.85
Locus for febrile seizures. Ann Neurol (2000) 0.85
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. Am J Med Genet (1994) 0.85
A BclI RFLP for DXS296 (VK21) near the fragile X. Nucleic Acids Res (1990) 0.84
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet (1994) 0.84
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). Am J Med Genet (1996) 0.84
XmnI, HincII and BclI RFLPs at D16S79. Nucleic Acids Res (1989) 0.83
Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci. Am J Med Genet (1992) 0.83
The genetic basis for periodic fever. Am J Hum Genet (1999) 0.83
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology (2011) 0.82
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. Am J Med Genet (1996) 0.82
Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26. Nucleic Acids Res (1991) 0.82
Presymptomatic testing for myotonic dystrophy by means of the linked DNA marker APOC2. Med J Aust (1988) 0.82
Regional localization for HLA by recombination with a fragile site at 6p23. Am J Hum Genet (1983) 0.81
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. Am J Med Genet (1994) 0.81
NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Genes Brain Behav (2007) 0.80
Linkage homogeneity near the fragile X locus in normal and fragile X families. Genomics (1991) 0.80
Direct molecular diagnosis of myotonic dystrophy. Clin Genet (1993) 0.79
Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders. Clin Genet (1998) 0.79
SSCP variants within the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor gene. Clin Genet (1997) 0.78
Characterisation and expression of a large, 13.7 kb FMR2 isoform. Eur J Hum Genet (1999) 0.78