PubRank

B A Oostra

Author PubWeight™ 269.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998 15.24
2 A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996 7.66
3 Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991 7.04
4 The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995 6.73
5 Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A 1997 4.73
6 A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993 3.58
7 Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron 2005 2.82
8 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 2005 2.69
9 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 2007 2.51
10 Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J 1988 2.44
11 A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet 1999 2.41
12 Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 1993 2.36
13 Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet 1997 2.27
14 FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999 2.23
15 Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet 1994 2.19
16 The fragile X syndrome. J Med Genet 1998 2.00
17 Meta-analysis of genome-wide association studies for personality. Mol Psychiatry 2010 1.96
18 Meta-analyses of genetic studies on major depressive disorder. Mol Psychiatry 2007 1.93
19 ACE polymorphisms. Circ Res 2006 1.92
20 Deletion loop mutagenesis: a novel method for the construction of point mutations using deletion mutants. Nucleic Acids Res 1982 1.90
21 High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999 1.87
22 A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001 1.83
23 A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1992 1.80
24 Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome. Epilepsia 2000 1.80
25 Familial aggregation in frontotemporal dementia. Neurology 1998 1.76
26 A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. Diabetes 2001 1.76
27 Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet 1997 1.74
28 Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp Cell Res 2000 1.73
29 Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet 2001 1.71
30 CGG repeat in the FMR1 gene: size matters. Clin Genet 2011 1.68
31 Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet 1993 1.68
32 Normal phenotype in two brothers with a full FMR1 mutation. Hum Mol Genet 1995 1.63
33 Shared genetic factors in migraine and depression: evidence from a genetic isolate. Neurology 2010 1.61
34 Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet 1997 1.59
35 Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. Am J Hum Genet 2000 1.59
36 Estimating human age from T-cell DNA rearrangements. Curr Biol 2010 1.58
37 A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 1993 1.57
38 Mental status of females with an FMR1 gene full mutation. Am J Hum Genet 1996 1.57
39 Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum Mol Genet 1999 1.53
40 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 2005 1.52
41 Transforming activity of polyoma virus middle-T antigen probed by site-directed mutagenesis. Nature 1983 1.52
42 Genetic risk profiles for depression and anxiety in adult and elderly cohorts. Mol Psychiatry 2010 1.50
43 FMRP is associated to the ribosomes via RNA. Hum Mol Genet 1996 1.49
44 Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet 1997 1.49
45 Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res 2006 1.47
46 FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 2008 1.45
47 Long-term potentiation in the hippocampus of fragile X knockout mice. Am J Med Genet 1996 1.45
48 Sex-specific genetic effects influence variation in body composition. Diabetologia 2008 1.43
49 A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet 1994 1.43
50 Genome-wide association study of Tourette's syndrome. Mol Psychiatry 2012 1.42
51 The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. J Med Genet 2005 1.40
52 A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics 1999 1.40
53 Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum Mol Genet 2001 1.40
54 The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet 2009 1.37
55 Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J Med Genet 1999 1.35
56 Heritability of the function and structure of the arterial wall: findings of the Erasmus Rucphen Family (ERF) study. Stroke 2005 1.35
57 Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum Mol Genet 1999 1.35
58 Trinucleotide repeat polymorphism in the androgen receptor gene (AR). Nucleic Acids Res 1992 1.34
59 The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis 2005 1.34
60 In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet 1998 1.34
61 Mildly impaired water maze performance in male Fmr1 knockout mice. Neuroscience 1997 1.32
62 Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology 2008 1.31
63 A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol Psychiatry 2011 1.30
64 Characterization of the human lysosomal alpha-glucosidase gene. Biochem J 1990 1.26
65 Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study. J Med Genet 2008 1.25
66 Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem J 1990 1.24
67 In vitro mutagenesis of the putative membrane-binding domain of polyomavirus middle-T antigen. J Virol 1986 1.24
68 Transgenic mouse model for the fragile X syndrome. Am J Med Genet 1996 1.22
69 EVI5 is a risk gene for multiple sclerosis. Genes Immun 2008 1.19
70 DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet 1994 1.18
71 An antibody to a synthetic peptide recognizes polyomavirus middle-T antigen and reveals multiple in vitro tyrosine phosphorylation sites. Mol Cell Biol 1984 1.17
72 In vitro transcription of three different ribosomal RNA cistrons of E. coli; heterogeneity of control regions. Mol Gen Genet 1977 1.15
73 Human lysosomal alpha-glucosidase. Characterization of the catalytic site. J Biol Chem 1991 1.15
74 Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families. Eur J Hum Genet 1994 1.14
75 Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998 1.14
76 The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Hum Mol Genet 1994 1.14
77 Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994 1.12
78 Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. Am J Med Genet 1992 1.12
79 Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet 1994 1.11
80 FMR1 premutation allele (CGG)81 is stable in mice. Eur J Hum Genet 1998 1.11
81 Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet 1996 1.10
82 Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice. Behav Brain Res 2000 1.10
83 Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study. Hum Hered 2006 1.10
84 Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol 1997 1.09
85 Site-directed mutagenesis of polyomavirus middle-T antigen sequences encoding tyrosine 315 and tyrosine 250. J Virol 1986 1.08
86 Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry 2011 1.08
87 Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum Mol Genet 1995 1.07
88 Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet 2005 1.07
89 Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. Biochem J 1993 1.05
90 Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population. Hum Genet 2009 1.04
91 The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells. Am J Med Genet 1996 1.04
92 Prenatal diagnosis of fragile X syndrome. Lancet 1996 1.03
93 Heritability of fasting glucose levels in a young genetically isolated population. Diabetologia 2006 1.01
94 Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J Mol Biol 1996 1.01
95 Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. Biochem J 1999 1.01
96 No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. J Med Genet 1990 1.00
97 Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain 2004 1.00
98 Familial aggregation, the PDE4D gene, and ischemic stroke in a genetically isolated population. Neurology 2005 0.99
99 A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. J Thromb Haemost 2010 0.99
100 Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study. Eur J Epidemiol 2010 0.99
101 Fragile X syndrome at the turn of the century. Mol Med Today 2000 0.99
102 Postmeiotic transcription of X and Y chromosomal genes during spermatogenesis in the mouse. Dev Biol 1995 0.99
103 The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data. Transl Psychiatry 2011 0.99
104 Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development. Endocrinology 1998 0.98
105 Phenotypic analysis of triphalangeal thumb and associated hand malformations. J Med Genet 1994 0.98
106 Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31. Genomics 1992 0.97
107 STOX1 gene in pre-eclampsia and intrauterine growth restriction. BJOG 2007 0.97
108 Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. Am J Ophthalmol 1996 0.96
109 Postmortem examination of two fragile X brothers with an FMR1 full mutation. Am J Med Genet 1999 0.96
110 Cerebrovascular risk factors do not contribute to genetic variance of cognitive function: the ERF study. Neurobiol Aging 2006 0.96
111 Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet 1999 0.95
112 Characterization of FMR1 promoter elements by in vivo-footprinting analysis. Am J Hum Genet 1997 0.95
113 Enhancement of ribosomal ribonucleic acid synthesis by deoxyribonucleic acid gyrase activity in Escherichia coli. J Bacteriol 1981 0.95
114 No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome. Neuroreport 1998 0.95
115 The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Hum Mol Genet 2000 0.95
116 The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice. Genes Brain Behav 2012 0.95
117 Genetic and clinical analysis of a large Dutch Gilles de la Tourette family. Mol Psychiatry 2006 0.94
118 Involvement of DNA gyrase in the transcription of ribosomal RNA. Nucleic Acids Res 1980 0.94
119 Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology 1997 0.93
120 Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene. Hum Mol Genet 1993 0.93
121 Isolation and characterization of 25 unique DNA markers for human chromosome 22. Genomics 1993 0.92
122 Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet 1994 0.92
123 Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities. J Med Genet 1999 0.92
124 Characterization of FMR1 proteins isolated from different tissues. Hum Mol Genet 1995 0.90
125 FMR2 expression in families with FRAXE mental retardation. Hum Mol Genet 1997 0.90
126 The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochem J 1993 0.90
127 Founder effect in a Belgian-Dutch fragile X population. Hum Genet 1993 0.90
128 A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus. Hum Reprod 2008 0.90
129 Understanding fragile X syndrome: insights from animal models. Cytogenet Genome Res 2003 0.89
130 No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. Am J Med Genet 1994 0.89
131 Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1993 0.89
132 Decreased systemic IL-7 and soluble IL-7Rα in multiple sclerosis patients. Genes Immun 2012 0.89
133 Polymorphism in the promoter region of the insulin-like growth factor I gene is related to carotid intima-media thickness and aortic pulse wave velocity in subjects with hypertension. Stroke 2003 0.89
134 A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. J Med Genet 2006 0.88
135 Learning and memory in the FMR1 knockout mouse. Am J Med Genet 1999 0.88
136 Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Hum Mutat 1993 0.87
137 Menopause impacts the relation of plasma adiponectin levels with the metabolic syndrome. J Intern Med 2009 0.87
138 Familial clustering of multiple sclerosis in a Dutch genetic isolate. Mult Scler 2007 0.87
139 Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. Hum Genet 1992 0.87
140 Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis. Neurobiol Aging 2009 0.87
141 Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity. Am J Med Genet 1996 0.86
142 Intragenic probe used for diagnostics in fragile X families. Am J Med Genet 1992 0.86
143 Linkage studies on Gilles de la Tourette syndrome: what is the strategy of choice? Am J Hum Genet 1995 0.86
144 Polymorphisms of the renin-angiotensin system are associated with blood pressure, atherosclerosis and cerebral white matter pathology. J Neurol Neurosurg Psychiatry 2007 0.86
145 The fragile X syndrome: no evidence for any recent mutations. J Med Genet 1993 0.86
146 Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population. J Neurol Neurosurg Psychiatry 2010 0.86
147 Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype. J Med Genet 2000 0.85
148 Savings and extinction of conditioned eyeblink responses in fragile X syndrome. Genes Brain Behav 2008 0.85
149 Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene. Clin Genet 2007 0.85
150 Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. Hum Genet 1991 0.85
151 Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. Am J Med Genet 2001 0.85
152 Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population. J Med Genet 2011 0.85
153 Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging. Eur J Hum Genet 1999 0.85
154 Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group. J Med Genet 1999 0.84
155 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Biochem Biophys Res Commun 1991 0.84
156 Multipoint linkage analysis of DXS369 and DXS304 in fragile X families. Am J Med Genet 1991 0.84
157 Novel strategy to identify genetic risk factors for COPD severity: a genetic isolate. Eur Respir J 2009 0.83
158 The fragile X syndrome and other fragile site disorders. Results Probl Cell Differ 1998 0.83
159 A rapid and sensitive determination of bacterial rRNA by means of hybridization-competition. Anal Biochem 1976 0.83
160 Prenatal detection of major cystic fibrosis mutation. Lancet 1989 0.83
161 Screening with the FMR1 protein test among mentally retarded males. Hum Genet 1998 0.83
162 Genetic variation in candidate genes like the HMGA2 gene in the extremely tall. Horm Res Paediatr 2011 0.82
163 FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics. J Med Genet 2003 0.82
164 A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. Am J Med Genet 1996 0.82
165 Specific stimulation of ribosomal RNA synthesis in E. coli by a protein factor. Mol Gen Genet 1980 0.82
166 Terminal strand-switching of E. coli RNA polymerase transcribing a truncated DNA fragment. Biochim Biophys Acta 1981 0.82
167 Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. Am J Med Genet 1996 0.82
168 A fragile X case with an amplification/deletion mosaic pattern. Hum Genet 2000 0.81
169 Adult and infantile glycogenosis type II in one family, explained by allelic diversity. Am J Hum Genet 1990 0.81
170 Conservation of CGG region in FMR1 gene in mammals. Am J Med Genet 1994 0.81
171 Subcellular localization of fragile X mental retardation protein with the I304N mutation in the RNA-binding domain in cultured hippocampal neurons. Cell Mol Neurobiol 2001 0.81
172 Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. Virchows Arch 2000 0.81
173 New distal marker closely linked to the fragile X locus. Hum Genet 1991 0.81
174 Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms. Cell Mol Life Sci 2004 0.81
175 Genetics of mental retardation. Curr Opin Pediatr 2000 0.81
176 Strategy for constructing somatic hybrids isolating the two derivative chromosomes in X;autosome translocations. Application to a female patient t(X;5) with Hunter syndrome. Ann Genet 1990 0.81
177 FMRP detection assay for the diagnosis of the fragile X syndrome. Am J Med Genet 2000 0.80
178 FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. Am J Med Genet 1999 0.80
179 A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. J Med Genet 2004 0.80
180 General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation. J Med Genet 1995 0.80
181 Limited size of the fragile X site shown by fluorescence in situ hybridization. Am J Med Genet 1992 0.80
182 The fragile X syndrome. J Inherit Metab Dis 1997 0.80
183 A genome-wide linkage study of individuals with high scores on NEO personality traits. Mol Psychiatry 2011 0.79
184 Restoring the phenotype of fragile X syndrome: insight from the mouse model. Curr Mol Med 2001 0.79
185 A clinical-genetic study of Parkinson's disease in a genetically isolated community. J Neurol 2003 0.79
186 Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics. Hum Genet 1999 0.79
187 N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study. J Neurol Neurosurg Psychiatry 1999 0.79
188 Genetic study on Tourette syndrome in The Netherlands. Adv Neurol 1992 0.78
189 PET neuroimaging and mutations in the DJ-1 gene. J Neural Transm (Vienna) 2004 0.78
190 Linkage and Tourette syndrome. Lancet 1991 0.78
191 Body composition by dual-energy X-ray absorptiometry in women with previous pre-eclampsia or small-for-gestational-age offspring. BJOG 2009 0.78
192 Association of heat shock proteins with all-cause mortality. Age (Dordr) 2012 0.78
193 PARK6 is a common cause of familial parkinsonism. Neurol Sci 2002 0.78
194 A mutation in the RNA polymerase beta' subunit causing depressed ribosomal RNA synthesis in Escherichia coli. Mol Gen Genet 1981 0.77
195 New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval. Am J Med Genet 1991 0.77
196 The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neurosci Lett 1999 0.77
197 Brachydactyly and short stature in a kindred with early-onset parkinsonism. Am J Med Genet A 2004 0.77
198 Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction. Mamm Genome 2001 0.77
199 Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes. Genomics 1992 0.76
200 Common polymorphisms in the GH/IGF-1 axis contribute to growth in extremely tall subjects. Growth Horm IGF Res 2011 0.76
201 Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. Hum Genet 1998 0.76
202 Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. J Med Genet 1997 0.76
203 An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA). Nucleic Acids Res 1991 0.75
204 RFLP for the human retinoic acid receptor gene RAR-beta. Nucleic Acids Res 1989 0.75
205 HindIII/EcoRI polymorphism in the GAA gene. Nucleic Acids Res 1990 0.75
206 RN1, a new polymorphic marker near the fragile X locus. (HGM10 assignment DXS 369). Nucleic Acids Res 1990 0.75
207 High symmetric anisometropia in monozygotic twins. Ophthalmic Paediatr Genet 1993 0.75
208 The genetic background of craniosynostosis syndromes. Eur J Hum Genet 1995 0.75
209 The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195. Genomics 1995 0.75
210 Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe. Am J Med Genet 1992 0.75
211 [Fragile X syndrome: basal defect, diagnosis and genetic counseling]. Ned Tijdschr Geneeskd 1992 0.75
212 X-linked recessive inheritance of radial ray deficiencies in a family with four affected males. Eur J Hum Genet 2001 0.75
213 [From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene]. Ned Tijdschr Geneeskd 2001 0.75
214 Biochemical genetics of glycogenosis type II in Brahman cattle. Biochem Biophys Res Commun 1993 0.75
215 Genetic aspects of polydactyly. Handchir Mikrochir Plast Chir 1996 0.75
216 The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks. Genomics 1993 0.75
217 Laser microdissection of the fragile X region: identification of cosmid clones and of conserved sequences in this region. Genomics 1991 0.75
218 Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. Genomics 1999 0.75
219 Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis. Hum Genet 1988 0.75
220 CYP2D6 polymorphism in Parkinson's disease: the Rotterdam Study. Mov Disord 2001 0.75
221 Dinucleotide repeat polymorphism at D11S994 locus. Hum Mol Genet 1993 0.75
222 [A large-scale diagnostic program for the fragile X syndrome among the mentally handicapped. I. An epidemiologic survey]. Ned Tijdschr Geneeskd 1998 0.75
223 [Prenatal diagnosis of cystic fibrosis using DNA analysis]. Ned Tijdschr Geneeskd 1986 0.75
224 Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice. Hum Genet 1996 0.75
225 The fragile-X syndrome: a growing gene causing familial intellectual disability. J Intellect Disabil Res 1994 0.75