PubRank

Y Nakahori

Author PubWeight™ 62.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 1991 3.98
2 An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998 3.86
3 A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 1991 1.99
4 Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Genet 1996 1.96
5 Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 1996 1.68
6 PCR detection of distal Yp sequences in an XX true hermaphrodite. Am J Med Genet 1991 1.54
7 Genotype prediction in the fragile X syndrome. J Med Genet 1991 1.45
8 Prenatal sex determination. Lancet 1990 1.41
9 A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides. Nucleic Acids Res 1986 1.34
10 A YAC contig across the fragile X site defines the region of fragility. Nucleic Acids Res 1991 1.29
11 Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage. J Hum Genet 1999 1.23
12 Linear order of new and established DNA markers around the fragile site at Xq27.3. Genomics 1991 1.00
13 A minute deletion of the Y chromosome in men with azoospermia. J Urol 1993 0.95
14 Gastrointestinal dysmotility is associated with altered gut flora and septic mortality in patients with severe systemic inflammatory response syndrome: a preliminary study. Neurogastroenterol Motil 2010 0.94
15 Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 1999 0.93
16 Molecular studies of the fragile X syndrome. Am J Med Genet 1992 0.92
17 Chondrodysplasia punctata with X;Y translocation. Hum Genet 1988 0.91
18 Chromosomal localisation of a Y specific growth gene(s). J Med Genet 1995 0.91
19 Sex determination of forensic samples by dual PCR amplification of an X-Y homologous gene. Forensic Sci Int 1992 0.89
20 Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995 0.87
21 A malformed girl with duplication of chromosome 9q. J Med Genet 1984 0.87
22 A Y-associated allele is shared among a few ethnic groups of Asia. Jpn J Hum Genet 1994 0.87
23 Fibrinogenolytic activity of a novel trypsin-like enzyme found in human airway. J Med Invest 1998 0.86
24 Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma. J Med Genet 2001 0.85
25 New DNA polymorphisms of human MMH/OGG1 gene: prevalence of one polymorphism among lung-adenocarcinoma patients in Japanese. Int J Cancer 1999 0.84
26 A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC). J Hum Genet 2001 0.84
27 Prostate cancer incidence varies among males from different Y-chromosome lineages. Prostate Cancer Prostatic Dis 2006 0.84
28 Recipient origin of bone marrow-derived fibroblastic stromal cells during all periods following bone marrow transplantation in humans. Br J Haematol 1991 0.84
29 Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod 1997 0.84
30 Assignment of cardiac homeobox gene CSX to human chromosome 5q34. Genomics 1995 0.84
31 The majority of the marker chromosomes in Japanese patients with stigmata of Turner syndrome are derived from Y chromosomes. Hum Genet 1992 0.83
32 A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum Mol Genet 1996 0.83
33 Y chromosome compound haplotypes with the microsatellite markers DXYS265, DXYS266, and DXYS241. J Hum Genet 2001 0.83
34 PCR detection of structurally abnormal Y chromosomes. Jpn J Hum Genet 1992 0.83
35 A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet 1994 0.83
36 Genotypic analysis using a Y-chromosome-specific probe following bone marrow transplantation. Am J Hematol 1988 0.82
37 The azoospermic factor on the Y chromosome. Acta Paediatr Jpn 1996 0.82
38 The loss of centromeric heterochromatin from an inactivated centromere of a dicentric chromosome. Jinrui Idengaku Zasshi 1986 0.82
39 High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities. Hum Genet 1984 0.81
40 A repeating unit of the DYZ1 family on the human Y chromosome consists of segments with partial male-specificity. Cytogenet Cell Genet 1991 0.81
41 Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 1996 0.80
42 Pericentric inversion of the Y chromosome of infertile male. Arch Androl 2001 0.80
43 Structure and chromosome location of human OGG1. Cytogenet Cell Genet 1999 0.80
44 A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome. Hum Mol Genet 1993 0.80
45 Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts. J Med Genet 1998 0.80
46 Restriction fragment length polymorphisms of the CYP11B1 gene in the Japanese population. Jpn J Hum Genet 1993 0.79
47 11q trisomy detected by fluorescence in situ hybridization. Clin Genet 1993 0.78
48 The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis. Hum Reprod 1994 0.78
49 YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. Genomics 1997 0.78
50 Detection of engraftment and chimerism after bone marrow transplantation by in situ hybridization using a Y-chromosome specific probe. Am J Hematol 1990 0.78
51 DNA analyses of XX and XX-hypospadiac males. Hum Genet 1992 0.78
52 Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. Acta Paediatr 1992 0.78
53 XX-male syndrome bearing the sex-determining region Y. Arch Androl 1999 0.78
54 Haplotype analysis of human AMPD1 gene: origin of common mutant allele. J Med Genet 2004 0.78
55 Sex identification of forensic specimens by polymerase chain reaction (PCR): two alternative methods. Forensic Sci Int 1991 0.78
56 DNA hybridization study using Y-specific probes in an XX-male. Andrologia 1992 0.77
57 Pericentric inversion with a minute deletion of the Y chromosome in a severely oligozoospermic man. Clin Genet 1995 0.77
58 Occupational cancer genetics: infrequent ras oncogenes point mutations in lung cancer samples from chromate workers. Am J Ind Med 2001 0.77
59 Dinucleotide repeat polymorphism on chromosome 9q32. Jpn J Hum Genet 1995 0.77
60 Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome. Hum Biol 1999 0.77
61 Refinement of the locus for X-linked recessive chondrodysplasia punctata. Hum Genet 1995 0.76
62 An azoospermic male with an unbalanced autosomal-Y translocation. Jpn J Hum Genet 1997 0.75
63 Sex identification in fresh blood and dried bloodstains by a nonisotopic deoxyribonucleic acid (DNA) analyzing technique. J Forensic Sci 1988 0.75
64 [Human Y chromosome in reproduction and development]. Nihon Rinsho 1993 0.75
65 Absence of fetal cells in maternal circulation at a level of 1 in 25,000. Am J Med Genet 1991 0.75
66 Y chromosome analysis and laparoscopic surgery in XY pure gonadal dysgenesis: a case report and a review of literature. Asia Oceania J Obstet Gynaecol 1993 0.75
67 Ethics and fetal medicine. Jpn J Hum Genet 1993 0.75
68 Partial trisomy of the distal segment 14q. Hum Genet 1990 0.75
69 DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes. Jinrui Idengaku Zasshi 1991 0.75
70 p-Dichlorobenzene-induced hepatotoxicity in mice depleted of glutathione by treatment with buthionine sulfoximine. Toxicology 1995 0.75
71 Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother. Endocr J 1994 0.75
72 DNA studies in 109 malignant tumors in children. Acta Paediatr Jpn 1987 0.75
73 A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis. Hum Genet 1991 0.75
74 Monozygotic twins of different apparent sex. Am J Med Genet 1994 0.75
75 Use of Y-chromosome specific probe for detection of engraftment of bone marrow transplantation. Nihon Ketsueki Gakkai Zasshi 1987 0.75
76 Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp). J Pediatr Endocrinol Metab 1997 0.75
77 Probe 87-10a identifies a codominantly inherited X chromosome allele polymorphic in three racial populations. Nucleic Acids Res 1990 0.75
78 Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). Hum Genet 1998 0.75
79 DNA analysis of two patients with a non-fluorescent Y chromosome. Jpn J Hum Genet 1992 0.75
80 Hypervariable polymorphism of autosomal origin detected by the Y-chromosome derived probe, pHY10. Jinrui Idengaku Zasshi 1989 0.75
81 [Cloning of Y specific repeated DNA and its use in the study of a structurally abnormal Y chromosome]. Tanpakushitsu Kakusan Koso 1986 0.75
82 [Carrier detection of hemophilia A in the Japanese population by use of four intragenic and extragenic RFLPs]. Rinsho Ketsueki 1988 0.75
83 [Mapping the human Y chromosome]. Tanpakushitsu Kakusan Koso 1993 0.75
84 A human protective protein gene partially overlaps the gene encoding phospholipid transfer protein on the complementary strand of DNA. Biochem Biophys Res Commun 1996 0.75
85 Cytogenetical and molecularbiological studies on a bovine XY female. J Vet Med Sci 1992 0.75
86 Assignment of the human GPAA1 gene, which encodes a product required for the attachment of glycosylphosphatidylinositols to proteins, at 8q24. Genomics 1998 0.75
87 Prenatal identification of mos 45,X/46,X,+mar in a normal male baby by cytogenetic and molecular analysis. Prenat Diagn 1998 0.75
88 Long Y-associated (GATA)n alleles were observed in a few ethnic groups in Asia. Jpn J Hum Genet 1996 0.75
89 Molecular analysis of the fragile X syndrome. J Inherit Metab Dis 1992 0.75
90 Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. Genes Chromosomes Cancer 1999 0.75
91 A novel (CA)n polymorphism on 6p21.1-21.2. Jpn J Hum Genet 1996 0.75
92 Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis. Horm Res 1996 0.75
93 Very low rate Y-chromosome mosaicism (1:5,400) detectable by a novel probe enzyme combination. Jinrui Idengaku Zasshi 1989 0.75
94 Sex identification by polymerase chain reaction using a Y-autosome homologous primer set. Jpn J Hum Genet 1993 0.75
95 The characterization of human male-specific 5.7 kb DNA(pKY-1) and its application to fetal sex-determination probe. Jinrui Idengaku Zasshi 1989 0.75
96 Localization of 24 cosmid clones on the human Y chromosome. Jpn J Hum Genet 1992 0.75
97 Detection of the testis determining factor in an XX man. J Urol 1993 0.75
98 [PCR sexing]. Tanpakushitsu Kakusan Koso 1992 0.75
99 Deoxyribonucleic acid and cytological detection of Y-containing cells in an XX hypospadiac boy with polyorchidism. J Urol 1991 0.75
100 Polymerase chain reaction analysis of the Y chromosome long arm in azoospermic patients: lack of the Y chromosome recognition motif (YRRM1) gene. Int J Urol 1998 0.75