List of works - Makiko Tsutsumi

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

scientific article published on 10 April 2020

A constitutional jumping translocation involving the Y and acrocentric chromosomes.

scientific article published on 17 August 2018

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

scientific article published on 05 December 2019

A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan

scientific article

Age-related decrease of meiotic cohesins in human oocytes

scientific article

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

scientific article published on 27 November 2020

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

scientific article published on 04 April 2020

Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I

scientific journal article

Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295]

scientific article published on 27 June 2019

DEAD-box protein Ddx46 is required for the development of the digestive organs and brain in zebrafish.

scientific article published on 19 March 2012

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

scientific article

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

article

Failure of homologous synapsis and sex-specific reproduction problems

scientific article

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

scientific article published on 13 September 2018

Genetic variation in the indoleamine 2,3-dioxygenase gene in pre-eclampsia

scientific article published on 28 February 2010

HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

scientific journal article

HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity

scientific journal article

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

scientific article published on 12 February 2015

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

scientific article published on 11 June 2009

Mechanism of complex gross chromosomal rearrangements: a commentary on concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

scientific article published on 15 December 2011

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

scientific article published on 21 October 2020

Molecular basis of maternal age-related increase in oocyte aneuploidy

scientific article published on March 2012

Mutations of the SYCP3 gene in women with recurrent pregnancy loss

scientific article published on 24 December 2008

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

scientific article

Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

scientific article

Paternal origin of the de novo constitutional t(11;22)(q23;q11).

scientific article

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

scientific article

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study

scientific article published on 14 September 2018

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result

scientific article published on 01 August 2014

Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

scientific article published on 17 April 2009

Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.

scientific article

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

scientific journal article

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

scientific article

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

scientific article

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy

scientific article published on 18 July 2018

Zebrafish Dmrta2 regulates neurogenesis in the telencephalon.

scientific article published in November 2011

List of works by Makiko Tsutsumi

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

A constitutional jumping translocation involving the Y and acrocentric chromosomes.

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan

Age-related decrease of meiotic cohesins in human oocytes

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I

Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295]

DEAD-box protein Ddx46 is required for the development of the digestive organs and brain in zebrafish.

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

Failure of homologous synapsis and sex-specific reproduction problems

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

Genetic variation in the indoleamine 2,3-dioxygenase gene in pre-eclampsia

HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity

Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

Mechanism of complex gross chromosomal rearrangements: a commentary on concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti

Molecular basis of maternal age-related increase in oocyte aneuploidy

Mutations of the SYCP3 gene in women with recurrent pregnancy loss

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

Paternal origin of the de novo constitutional t(11;22)(q23;q11).

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result

Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy

Zebrafish Dmrta2 regulates neurogenesis in the telencephalon.