PubRank

X Estivill

Author PubWeight™ 303.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 1987 7.88
2 Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet 1998 5.24
3 The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet 1994 4.94
4 High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000 4.63
5 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997 3.39
6 DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet 2000 2.93
7 Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996 2.40
8 Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet 2001 2.24
9 Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 2000 2.20
10 Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. Nucleic Acids Res 1987 2.16
11 Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999 2.05
12 Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes. Anal Biochem 1995 2.01
13 Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 1995 1.97
14 Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum Mol Genet 2000 1.84
15 MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet 2001 1.78
16 Indirect cystic fibrosis carrier detection. Lancet 1987 1.76
17 A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 2001 1.75
18 A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum Mol Genet 1995 1.68
19 Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. Genomics 1997 1.68
20 Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J 1988 1.67
21 Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet 1999 1.65
22 Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 1994 1.63
23 Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group. Gut 2001 1.62
24 A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum Mol Genet 1996 1.60
25 Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 2003 1.59
26 Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 1997 1.55
27 Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. Genomics 1999 1.55
28 Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging. Brain Res Mol Brain Res 1997 1.53
29 Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 2000 1.49
30 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000 1.48
31 Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod 2000 1.47
32 CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics 1991 1.46
33 [Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis]. Med Clin (Barc) 1997 1.44
34 A patient with autistic disorder and a 20/22 chromosomal translocation. Dev Med Child Neurol 1998 1.41
35 Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999 1.41
36 The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Res 2000 1.40
37 Experience with new DNA markers for the diagnosis of cystic fibrosis. N Engl J Med 1988 1.37
38 Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Hum Mol Genet 1993 1.31
39 Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 1996 1.31
40 Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells. Mol Cell Biol 1998 1.30
41 Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet 1993 1.29
42 A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet 1995 1.29
43 Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol 1996 1.24
44 The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am J Hum Genet 1999 1.23
45 Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. J Med Genet 2005 1.21
46 A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 1993 1.21
47 Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psychiatry 2007 1.19
48 Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment. Cereb Cortex 2003 1.18
49 Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem 1993 1.18
50 Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res 2001 1.17
51 A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome Res 1999 1.16
52 Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13). Hum Genet 1986 1.14
53 Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet 2001 1.13
54 Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 1999 1.13
55 Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis. FEBS Lett 2000 1.12
56 WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 1995 1.12
57 Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry 2009 1.11
58 Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet 1993 1.11
59 X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics 2007 1.11
60 PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks. Oncogene 2001 1.11
61 Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene. Hum Genet 1994 1.11
62 Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet 2013 1.10
63 Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity. Behav Neurosci 2004 1.10
64 Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases. Biochem Biophys Res Commun 1999 1.10
65 Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type. Mol Psychiatry 2003 1.09
66 Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction. Neurobiol Dis 2004 1.09
67 Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet 1999 1.08
68 Complexity in a monogenic disease. Nat Genet 1996 1.08
69 Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosomes Cancer 1995 1.07
70 Delta F508 gene deletion in cystic fibrosis in southern Europe. Lancet 1989 1.06
71 The human intersectin genes and their spliced variants are differentially expressed. Biochim Biophys Acta 2001 1.06
72 Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 1996 1.06
73 Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur J Hum Genet 2000 1.06
74 Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis. Mech Dev 2001 1.05
75 Complete detection of mutations in cystic fibrosis patients of Native American origin. Hum Genet 1994 1.04
76 Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1996 1.03
77 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 2001 1.02
78 Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. Eur J Hum Genet 1997 1.02
79 Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am J Hum Genet 1995 1.02
80 Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins. Am J Hum Genet 1994 1.02
81 Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis. Mol Cell Probes 1992 1.02
82 High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum Genet 1997 1.01
83 Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Hum Mol Genet 1998 1.01
84 Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia. Genes Brain Behav 2007 1.01
85 Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 1993 1.01
86 Genetic differences between cystic fibrosis with and without meconium ileus. Lancet 1988 1.00
87 Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat Genet 2001 1.00
88 A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am J Hum Genet 1999 0.99
89 Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. Hum Mol Genet 1993 0.99
90 HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression. Cytogenet Cell Genet 2000 0.99
91 Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 1992 0.99
92 Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication. Kidney Int 1997 0.98
93 Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet 2001 0.98
94 Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 1997 0.98
95 Missense mutations in the cystic fibrosis gene in adult patients with asthma. Hum Mutat 1999 0.98
96 A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. Hum Genet 2000 0.98
97 On dendrites in Down syndrome and DS murine models: a spiny way to learn. Prog Neurobiol 2004 0.98
98 Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b. Cytogenet Cell Genet 2000 0.97
99 Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet 1988 0.97
100 [Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]. Med Clin (Barc) 1998 0.96
101 A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders. Pharmacogenomics J 2007 0.96
102 Copy number polymorphism of the salivary amylase gene: implications in human nutrition research. J Nutrigenet Nutrigenomics 2012 0.96
103 Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet 2007 0.96
104 Additional support for the association of SLITRK1 var321 and Tourette syndrome. Mol Psychiatry 2010 0.96
105 Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. Eur J Hum Genet 1999 0.95
106 Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease. Clin Nephrol 1997 0.95
107 Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat 2001 0.95
108 Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet 2007 0.95
109 New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines. Hum Mutat 1994 0.95
110 Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene. Am J Hum Genet 1994 0.95
111 Joint effect of obesity and TNFA variability on asthma: two international cohort studies. Eur Respir J 2009 0.95
112 A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Hum Mol Genet 1993 0.94
113 CFTR and asthma in the French EGEA study. Eur J Hum Genet 2001 0.94
114 A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996 0.94
115 Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994 0.94
116 Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am J Hum Genet 2000 0.94
117 SSCP analysis: a blind sensitivity trial. Hum Mutat 1997 0.93
118 A rapid method to identify cosmids containing rare restriction sites. Nucleic Acids Res 1987 0.93
119 Murine models for Down syndrome. Physiol Behav 2001 0.93
120 Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum Mol Genet 1993 0.93
121 Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 1995 0.93
122 CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. J Med Genet 1999 0.93
123 Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? Clin Genet 2004 0.93
124 Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet 1996 0.93
125 A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum Genet 1991 0.92
126 Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH. J Med Genet 1997 0.92
127 Neurobehavioral development of two mouse lines commonly used in transgenic studies. Pharmacol Biochem Behav 2002 0.92
128 Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. Am J Hum Genet 1992 0.92
129 Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum Mutat 1996 0.92
130 High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 1999 0.91
131 Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Genet 1992 0.91
132 Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. Am J Med Genet A 2007 0.90
133 A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase. Cytogenet Cell Genet 2000 0.90
134 Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12. Cytogenet Cell Genet 2000 0.90
135 A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression. Genes Brain Behav 2010 0.90
136 Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Hum Genet 2001 0.90
137 Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Hum Genet 1995 0.90
138 The human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene family. Genomics 1995 0.90
139 Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population. Int J Legal Med 1993 0.89
140 Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. Nucleic Acids Res 2000 0.89
141 PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. Gene 2001 0.89
142 Variation in the BDNF Val66Met polymorphism and response to cognitive-behavior therapy in obsessive-compulsive disorder. Eur Psychiatry 2011 0.89
143 Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process. Biochem Mol Med 1997 0.89
144 Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, harm avoidance and minimum body mass index. Mol Psychiatry 2005 0.89
145 Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. Hum Genet 1997 0.88
146 TNFA -308G>A in two international population-based cohorts and risk of asthma. Eur Respir J 2008 0.88
147 Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. Hum Genet 1996 0.88
148 Genetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene. Genes Brain Behav 2008 0.88
149 Linkage of DNA probe B79a (D7S13) to cystic fibrosis. Am J Hum Genet 1987 0.88
150 Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci U S A 1995 0.87
151 Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. Hum Mol Genet 1993 0.87
152 Mutational analysis within the 3' region of the PKD1 gene. Kidney Int 1999 0.87
153 Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders. Am J Respir Crit Care Med 2000 0.87
154 HLA class II genes in soybean epidemic asthma patients. Am J Respir Crit Care Med 1997 0.86
155 DNA methylation in neurodegenerative disorders: a missing link between genome and environment? Clin Genet 2011 0.86
156 Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Hum Mutat 1994 0.86
157 Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies. Am J Kidney Dis 1998 0.86
158 Association of neurexin 3 polymorphisms with smoking behavior. Genes Brain Behav 2012 0.86
159 [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases]. Med Clin (Barc) 1995 0.86
160 Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma. Int J Cancer 1998 0.86
161 5' UTR-region SNP in the NTRK3 gene is associated with panic disorder. Mol Psychiatry 2002 0.86
162 Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. Am J Hum Genet 1986 0.85
163 Single-strand conformation polymorphism analysis in the FMR1 gene. Am J Med Genet 1999 0.85
164 Rare variants in the promoter of the fragile X syndrome gene (FMR1). Mol Cell Probes 2000 0.85
165 Cystic fibrosis mutation delta F508 in Finland: other mutations predominate. Hum Genet 1990 0.85
166 A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis. Genomics 1990 0.85
167 Cystic fibrosis in Finland: a molecular and genealogical study. Hum Genet 1989 0.85
168 Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2, 6-bisphosphatase gene (PFKFB3). Cytogenet Cell Genet 1998 0.85
169 The 5-HT(2A) -1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres. Mol Psychiatry 2002 0.85
170 Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster. Biochem Biophys Res Commun 1998 0.85
171 Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness. Hum Genet 1995 0.84
172 Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS). Thorax 2009 0.84
173 Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families. Hum Mol Genet 1993 0.84
174 The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunction. Brain 1996 0.84
175 Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 1994 0.84
176 Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet 1995 0.83
177 A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Am J Hum Genet 1998 0.83
178 Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. Hum Mutat 1999 0.83
179 Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families. Hum Genet 1990 0.83
180 Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder. Psychoneuroendocrinology 2010 0.83
181 PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. Gene 2001 0.82
182 Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum Genet 1994 0.82
183 Gene-environment interaction in anorexia nervosa: relevance of non-shared environment and the serotonin transporter gene. Mol Psychiatry 2010 0.82
184 Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat 2002 0.82
185 Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes. Gene 1998 0.82
186 Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families. J Med Genet 1991 0.82
187 Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene. J Med Genet 1999 0.82
188 A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion. Hum Genet 1996 0.82
189 BDNF variability in opioid addicts and response to methadone treatment: preliminary findings. Genes Brain Behav 2008 0.82
190 D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness. Neuroscience 2011 0.81
191 Development in a 46 XX boy with positive SRY gene. J Pediatr Endocrinol Metab 1997 0.81
192 Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation. Nucleic Acids Res 1989 0.81
193 Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis. Leukemia 2013 0.81
194 Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. Clin Genet 2013 0.81
195 Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52. Cytogenet Cell Genet 1999 0.81
196 Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog. Biochim Biophys Acta 2001 0.81
197 Combined family trio and case-control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa. Am J Med Genet B Neuropsychiatr Genet 2004 0.81
198 CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Hum Genet 1996 0.80
199 Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene. DNA Seq 2000 0.80
200 PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation. Nucleic Acids Res 1990 0.80
201 Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region. Gene 1999 0.80
202 Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. Hum Genet 1999 0.80
203 Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. Cytogenet Cell Genet 2000 0.80
204 Maternal transmission in sporadic Huntington's disease. J Neurol Neurosurg Psychiatry 1997 0.80
205 Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2. Genes Brain Behav 2009 0.80
206 Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis. J Neurol Neurosurg Psychiatry 1996 0.80
207 Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis. Leukemia 2015 0.80
208 Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Hum Genet 1997 0.80
209 Cosmid contig and transcriptional map of three regions of human chromosome 21q22: identification of 37 novel transcripts by direct selection. Genomics 1997 0.80
210 Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21. Genomics 1993 0.80
211 Interfamilial and intrafamilial variability of clinical expression in ADPKD. Contrib Nephrol 1995 0.80
212 The EUROGEM map of human chromosome 21. Eur J Hum Genet 1994 0.79
213 The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. J Med Genet 1990 0.79
214 Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. J Med Genet 1996 0.79
215 Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. J Med Genet 1996 0.79
216 Genomic structure and organization of the human rBAT gene (SLC3A1). Genomics 1996 0.79
217 SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII. Nucleic Acids Res 1991 0.79
218 High risk of lifetime history of suicide attempts among CYP2D6 ultrarapid metabolizers with eating disorders. Mol Psychiatry 2011 0.79
219 Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions. Nucleic Acids Res 1998 0.79
220 [Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland]. Med Wieku Rozwoj 2000 0.79
221 Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). J Med Genet 1994 0.79
222 Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. Hum Mutat 1999 0.79
223 ADRB2 Gly16Arg polymorphism, asthma control and lung function decline. Eur Respir J 2011 0.79
224 MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients. Genes Brain Behav 2013 0.79
225 Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients. Hum Genet 1997 0.79
226 Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene. Gene 1999 0.79
227 CYP2D6 polymorphism in patients with eating disorders. Pharmacogenomics J 2010 0.78
228 Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder. Am J Med Genet B Neuropsychiatr Genet 2003 0.78
229 Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet Med 2001 0.78
230 Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles. Lancet 1991 0.78
231 A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. J Med Genet 1994 0.78
232 Differential responses to anxiogenic drugs in a mouse model of panic disorder as revealed by Fos immunocytochemistry in specific areas of the fear circuitry. Amino Acids 2006 0.78
233 Geographic distribution and origin of CFTR mutations in Germany. Hum Genet 1996 0.78
234 Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study. Nutr Neurosci 2009 0.78
235 Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. Biol Reprod 2001 0.78
236 Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes. Hum Genet 2001 0.78
237 The emerging role of structural variations in common disorders: initial findings and discovery challenges. Cytogenet Genome Res 2009 0.78
238 Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation. Prenat Diagn 1999 0.78
239 Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA. Hum Genet 1997 0.78
240 Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene. Thromb Haemost 1995 0.78
241 Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. J Med Genet 2001 0.78
242 Mapping of the human Zn-alpha 2-glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization. Cytogenet Cell Genet 1994 0.78
243 Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene. Hum Mol Genet 1993 0.78
244 Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples. Prenat Diagn 1995 0.78
245 Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. Genomics 1999 0.78
246 Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene. Thromb Haemost 1994 0.78
247 Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers. Prenat Diagn 1994 0.78
248 Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: implications for gene therapy. Int J Cancer 2001 0.78
249 ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis. Nucleic Acids Res 1990 0.78
250 Functional genomics of Down syndrome: a multidisciplinary approach. J Neural Transm Suppl 2001 0.78
251 Identification of a new frameshift mutation (1801delAG) in the ALD gene. Hum Mol Genet 1994 0.77
252 Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. Am J Med Genet 2001 0.77
253 High conservation of sequences involved in cystic fibrosis mutations in five mammalian species. Genomics 1991 0.77
254 Aberrant RNA splicing of the protein C and protein S genes in healthy individuals. Blood Coagul Fibrinolysis 1996 0.77
255 [Polyarthritis and exanthema in Gardnerella vaginalis vulvovaginitis]. Med Clin (Barc) 1984 0.77
256 Integration of 30 CA-repeat markers into the cytogenetic, genetic and YAC maps of human chromosome 21. Eur J Hum Genet 1996 0.77
257 Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants. Hum Mutat 2000 0.77
258 A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. J Med Genet 1994 0.77
259 YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. Hum Genet 1996 0.77
260 [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome]. Med Clin (Barc) 1999 0.77
261 Candidate genes for panic disorder: insight from human and mouse genetic studies. Genes Brain Behav 2007 0.77
262 Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients. Hum Mutat 1992 0.77
263 Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors. Thromb Haemost 2000 0.77
264 Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes. J Mol Med (Berl) 2001 0.77
265 Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. Hum Mutat 1997 0.77
266 Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families. Hum Mutat 1998 0.77
267 Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene. J Med Genet 2000 0.77
268 Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication. J Med Genet 2001 0.77
269 Genes as causes: scientific fact or simplistic thinking? J Epidemiol Community Health 2000 0.76
270 Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. Gene 2001 0.76
271 ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis. Eur J Hum Genet 2001 0.76
272 Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E. Hum Mutat 2000 0.76
273 Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin. J Neural Transm Suppl 1999 0.76
274 Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. Hum Mutat 2000 0.76
275 Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome. Mamm Genome 1996 0.76
276 Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study. Hum Genet 1990 0.76
277 [Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes]. Nefrologia 2000 0.76
278 Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles. Clin Genet 2007 0.76
279 Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes. BJOG 2012 0.76
280 Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. Hum Mutat 1998 0.75
281 Prenatal diagnosis of sporadic neurofibromatosis 1. Lancet 1992 0.75
282 Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. Hum Mutat 1997 0.75
283 Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation. Am J Hum Genet 2000 0.75
284 MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene. Nucleic Acids Res 1991 0.75
285 A polymorphic DNA probe from chromosome 7 (7q22). Nucleic Acids Res 1990 0.75
286 Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis. Am J Hum Genet 1987 0.75
287 Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. J Med Genet 1998 0.75
288 R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Eur J Hum Genet 2001 0.75
289 Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2). Nucleic Acids Res 1996 0.75
290 Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases. Hospital Clinic Malignant Melanoma Group, University of Barcelona. Melanoma Res 2000 0.75
291 A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation. Am J Hum Genet 1992 0.75
292 Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene. Thromb Haemost 1996 0.75
293 The EUROGEM map of human chromosome 12. Eur J Hum Genet 1994 0.75
294 The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Hum Genet 1995 0.75
295 [Thymoma associated with erythroblastopenia and hypogammaglobulinemia with an increase in the T8+ lymphocyte subpopulation]. Med Clin (Barc) 1984 0.75
296 [Mixed hypermineralocorticoidism: hepatopathy and glycyrrhizinic acid]. Med Clin (Barc) 1983 0.75
297 [Thymoma and pure red-cell aplasia. Immunologic study of 3 cases]. Med Clin (Barc) 1985 0.75
298 The human HERC3 gene maps to chromosome 4q21 by fluorescence in situ hybridization. Cytogenet Cell Genet 1999 0.75
299 Hypertension in polycystic kidney disease type 1 and 2 and its effect on the age of onset of end-stage renal disease. Contrib Nephrol 1997 0.75
300 Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. Prenat Diagn 1996 0.75
301 A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Genet 1992 0.75
302 [Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. Rev Neurol 2005 0.75
303 [Acquired factor X deficiency in primary amyloidosis]. Med Clin (Barc) 1984 0.75
304 Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. Biochim Biophys Acta 2001 0.75
305 [An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families]. Med Clin (Barc) 1999 0.75
306 [The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A]. Med Clin (Barc) 1996 0.75
307 Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia. Am J Med Genet 1999 0.75
308 Molecular genetics and the basic defect causing cystic fibrosis. Cold Spring Harb Symp Quant Biol 1986 0.75
309 [Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers]. Med Clin (Barc) 1989 0.75
310 Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3. Hum Genet 1995 0.75
311 [High-doses BCNU in diseases of the central nervous system caused by myeloma]. Med Clin (Barc) 1985 0.75
312 [Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis]. Med Clin (Barc) 1990 0.75
313 Association study of proposed candidate genes/regions in a population of Spanish asthmatics. Eur J Epidemiol 2000 0.75
314 [The acquired immunodeficiency syndrome. A dynamic clinico-biological situation]. Sangre (Barc) 1983 0.75
315 Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency. Hum Mol Genet 1994 0.75
316 Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients. Hum Genet 1997 0.75
317 Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers. Prenat Diagn 1995 0.75
318 Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer. Biochim Biophys Acta 2000 0.75
319 Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study. Gene Geogr 1990 0.75
320 Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online. Hum Mutat 1998 0.75
321 Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations. Prenat Diagn 1991 0.75
322 Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus. Hum Genet 1989 0.75
323 Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency. Hum Genet 1993 0.75
324 Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21. Hum Genet 1994 0.75
325 [Spontaneous retroperitoneal hemorrhage and anticoagulant treatment: presentation of 4 cases and review of the literature]. Med Clin (Barc) 1984 0.75
326 Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein Ym130 gene. DNA Seq 2001 0.75
327 Genetic engineering approaches for organ transplantation. Transplant Proc 1999 0.75
328 Vestibular and hearing loss in genetic and metabolic disorders. Curr Opin Neurol 1999 0.75
329 [Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency]. Med Clin (Barc) 1992 0.75
330 De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Hum Genet 1995 0.75
331 Carrier detection and microsatellite analysis of Duchenne and Becker muscular dystrophy in Spanish families. Prenat Diagn 1994 0.75
332 The molecular basis of cystinuria: the role of the rBAT gene. Amino Acids 1996 0.75
333 Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene. Hum Mutat 1996 0.75
334 [Spontaneous retroperitoneal hemorrhage and anticoagulation]. Med Clin (Barc) 1984 0.75
335 [Hemorrhagic diathesis associated with high doses of beta-lactam antibiotics: presentation of 3 cases]. Med Clin (Barc) 1986 0.75
336 [Thymoma and associated immunologic changes: T lymphocytes and the regulation of hematopoiesis]. Med Clin (Barc) 1985 0.75
337 Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235). Hum Mol Genet 1993 0.75
338 Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus. Hum Genet 1988 0.75
339 Five new microsatellite polymorphisms at the q21 region of human chromosome 21. Hum Genet 1995 0.75
340 [Pelvic lipomatosis and thrombosis of the inferior vena cava. Presentation of a case and review of the literature]. Med Clin (Barc) 1985 0.75
341 [Genotype study of T receptors in the diagnosis and classification of leukemias and lymphomas]. Med Clin (Barc) 1988 0.75
342 Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele. Blood 1997 0.75
343 Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1-->q21.2. Cytogenet Cell Genet 2000 0.75
344 [Study of the segregation pattern of the genes responsible for hemophilia A]. Med Clin (Barc) 1986 0.75
345 Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients. Hum Mutat 1996 0.75
346 Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1. Hum Genet 1995 0.75
347 The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitations. Hum Mutat 1997 0.75
348 Mutations and intragenic polymorphisms in the diagnosis of autosomal dominant polycystic kidney disease type 1. Contrib Nephrol 1997 0.75
349 [Progress in the analysis of cystic fibrosis: prenatal diagnosis and carrier detection]. Med Clin (Barc) 1989 0.75
350 Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes. Hum Mutat 1992 0.75
351 Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive-compulsive disorder. Pharmacogenomics J 2012 0.75
352 Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24. DNA Seq 2001 0.75
353 Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. Cytogenet Cell Genet 1997 0.75
354 Tools of gene transfer in organ transplantation. Transplant Proc 1999 0.75
355 Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21. Am J Med Genet 2001 0.75
356 Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype. J Med Genet 2000 0.75
357 Rearrangement of the c-myc oncogene with heavy-chain immunoglobulin enhancer in tumor DNA from an acute lymphoblastic leukemia patient. J Natl Cancer Inst 1987 0.75
358 A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene. Hum Genet 1995 0.75
359 Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency. Blood Coagul Fibrinolysis 1996 0.75
360 Rapid fetal karyotype from cystic hygroma and pleural effusions. Prenat Diagn 1995 0.75
361 Chronic T-cell lymphocytosis associated with pure red call aplasia, thymoma and hypogammaglobulinemia. Br J Haematol 1985 0.75
362 Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation. Hum Genet 1995 0.75
363 Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families. Hum Mutat 1992 0.75
364 The cystic fibrosis locus. Enzyme 1987 0.75
365 [Reactive arthritis in the course of Q fever]. Med Clin (Barc) 1983 0.75
366 Plasmatic and urinary protein C levels in nephrotic syndrome. Thromb Haemost 1985 0.75
367 Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis. J Chromatogr A 1997 0.75
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