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TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome

Proceedings of the National Academy of Sciences - PNAS, 2014-01, Vol.111 (4), p.1461-1466

2014

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Predicted prevalence of Down syndrome live births in Japan, 1970-2006

American journal of medical genetics. Part A, 2008-06, Vol.146A (11), p.1387-1388

Kajii, Tadashi

2008

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Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates

Human molecular genetics, 2011-05, Vol.20 (10), p.2058-2070

2011

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Meiosis error and subsequent genetic and epigenetic alterations invoke the malignant transformation of germ cell tumor

Genes chromosomes & cancer, 2013-03, Vol.52 (3), p.274-286

2013

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Premature chromatid separation (PCS) vs. premature centromere division (PCD)

American journal of medical genetics, 2004-05, Vol.126A (4), p.433-434

2004

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Heterozygous TGFBR2 mutations in Marfan syndrome

Nature genetics, 2004-08, Vol.36 (8), p.855-860

2004

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Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

American journal of medical genetics. Part A, 2006-02, Vol.140A (4), p.358-367

2006

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Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

The Journal of pediatrics, 1981-10, Vol.99 (4), p.565-569

1981

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Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene

Biochemical and biophysical research communications, 1990-05, Vol.168 (3), p.993-1000

1990

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Tissue-Specific and Developmentally Regulated Expression of the Genes Encoding Adenylate Kinase Isozymes

Journal of biochemistry (Tokyo), 1993-02, Vol.113 (2), p.200-207

1993

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Transmission of Del(X)(p11.2) from Mother to Daughter

Clinical Pediatric Endocrinology, 2002, Vol.11(1), pp.33-42

2002

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Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase

Archives of biochemistry and biophysics, 1992-05, Vol.295 (1), p.180-187

1992

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Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint

American journal of human genetics, 2000-08, Vol.67 (2), p.483-486

2000

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Interstitial deletion of 8p: report of two patients and review of the literature

Clinical genetics, 1995-07, Vol.48 (1), p.41-45

1995

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Mapping of the Human Guanosine Monophosphate Reductase Gene (GMPR) to Chromosome 6p23 by Fluorescence in Situ Hybridization

Genomics (San Diego, Calif.), 1994-01, Vol.19 (1), p.179-180

1994

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Physical parameters in Japanese newborns

Journal of human genetics, 1992-09, Vol.37 (3), p.223-228

1992

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ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation

American journal of medical genetics. Part A, 2004-09, Vol.129A (3), p.290-293

2004

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Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait

American journal of medical genetics, 2004-05, Vol.126A (4), p.432-432

2004

Volltextzugriff (PDF)

Radiographic measurements of metacarpophalangeal lengths in Japanese children

Jinrui idengaku zasshi. Japanese journal of human genetics, 1989-06, Vol.34 (2), p.159-168

1989

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Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls

American journal of medical genetics, 2004-06, Vol.127A (2), p.128-132

2004

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Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants

American journal of medical genetics, 2001-11, Vol.104 (1), p.57-64

2001

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Androgenetic origin of hydatidiform mole

Nature (London), 1977-08, Vol.268 (5621), p.633-634

1977

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Duplication of 8p23.2: A benign cytogenetic variant?

American journal of medical genetics, 2002-08, Vol.111 (3), p.285-288

2002

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Occipital horn syndrome: report of a patient and review of the literature

Clinical genetics, 1994-01, Vol.45 (1), p.32-35

1994

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Origin of acrocentric trisomies in spontaneous abortuses

Human genetics, 1977-01, Vol.40 (1), p.73-78

1977

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TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome

Predicted prevalence of Down syndrome live births in Japan, 1970-2006

Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates

Meiosis error and subsequent genetic and epigenetic alterations invoke the malignant transformation of germ cell tumor

Premature chromatid separation (PCS) vs. premature centromere division (PCD)

Heterozygous TGFBR2 mutations in Marfan syndrome

Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene

Tissue-Specific and Developmentally Regulated Expression of the Genes Encoding Adenylate Kinase Isozymes

Transmission of Del(X)(p11.2) from Mother to Daughter

Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase

Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint

Interstitial deletion of 8p: report of two patients and review of the literature

Mapping of the Human Guanosine Monophosphate Reductase Gene (GMPR) to Chromosome 6p23 by Fluorescence in Situ Hybridization

Physical parameters in Japanese newborns

ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation

Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait

Radiographic measurements of metacarpophalangeal lengths in Japanese children

Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants

Androgenetic origin of hydatidiform mole

Duplication of 8p23.2: A benign cytogenetic variant?

Occipital horn syndrome: report of a patient and review of the literature

Origin of acrocentric trisomies in spontaneous abortuses

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