Lista de obras -

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate

artículo científico publicado en 2018

A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

artículo científico publicado en 2013

A PDE3A mutation in familial hypertension and brachydactyly syndrome

artículo científico publicado en 2016

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) ⬇️

artículo científico publicado el 30 de julio de 2010

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

scientific article published on 10 April 2020

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

artículo científico publicado en 2018

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

article

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

artículo científico publicado en 2017

A constitutional jumping translocation involving the Y and acrocentric chromosomes.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 2 de febrero de 2012

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

artículo científico publicado en 2015

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

artículo científico publicado en 2014

A simple cytogenetic method to detect chromosomally integrated human herpesvirus-6.

artículo científico publicado en 2015

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome

artículo científico publicado en 2015

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

artículo científico publicado en 2006

Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient.

artículo científico publicado en 2013

Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm

artículo científico publicado en 2007

Age-related decrease of meiotic cohesins in human oocytes

artículo científico publicado en 2014

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

artículo científico publicado en 2020

An immunocompetent child with chromosomally integrated human herpesvirus 6B accidentally identified during the care of Mycoplasma pneumoniae infection

artículo científico publicado en 2013

Analysis of gene-expression profiles by oligonucleotide microarray in children with influenza

artículo científico

Analysis of nitric oxide metabolism as a placental or maternal factor underlying the etiology of pre-eclampsia

artículo científico publicado en 2009

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

scientific article published on 04 April 2020

Analysis of the origin of inherited chromosomally integrated human herpesvirus 6 in the Japanese population

artículo científico publicado en 2017

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation

artículo científico publicado en 2014

Androgen receptor pathway in rats with autosomal dominant polycystic kidney disease

artículo científico publicado en 2005

Annexin A5 haplotype M2 is not a risk factor for recurrent spontaneous abortion in Northern Europe: is there sufficient evidence?

artículo científico publicado en 2016

Authors' response to the letter of Nagirnaja et al., "Response to annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?".

artículo científico publicado en 2016

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

artículo científico publicado en 2005

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

artículo científico publicado en 2014

CD9 gene variations are not associated with female infertility in humans

artículo científico publicado en 2009

Candidate genes for male factor infertility--validation

artículo científico publicado en 2006

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

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

artículo científico publicado en 2008

Chromosomal translocations and palindromic AT-rich repeats ⬇️

artículo científico publicado el 6 de marzo de 2012

Chromosomal translocations mediated by palindromic DNA.

artículo científico publicado en 2006

Chromosomally integrated human herpesvirus 6 in the Japanese population

scientific article published on 10 July 2018

Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events

artículo científico publicado en 2018

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

scientific article published on 11 October 2019

Clinical utility of target capture-based panel sequencing in hematological malignancies: a multicenter feasibility study

artículo científico publicado en 2020

Coinfection With Human Herpesvirus (HHV)-6B in Immunocompetent, Healthy Individuals With Chromosomally Integrated HHV-6A

artículo científico publicado en 2020

Comparative gene expression profiling of placentas from patients with severe pre-eclampsia and unexplained fetal growth restriction ⬇️

artículo científico publicado el 2 de agosto de 2011

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

scientific article published on 12 September 2018

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

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

artículo científico publicado en 2017

Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations

artículo científico publicado en 2004

Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats

artículo científico publicado en 2007

DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Decreased expression of apelin in placentas from severe pre-eclampsia patients ⬇️

artículo científico publicado el 11 de julio de 2013

Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.

artículo científico publicado en 2013

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

artículo científico publicado en 2018

Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6.

artículo científico

Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand

artículo científico publicado en 2015

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

scientific article published on 02 October 2019

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

article

Expression analysis of a mouse orthologue of HSFY, a candidate for the azoospermic factor on the human Y chromosome

scientific article published on 01 February 2006

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

artículo científico publicado en 2006

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

article

Failure of homologous synapsis and sex-specific reproduction problems ⬇️

artículo científico publicado el 18 de junio de 2012

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

scientific article published on 13 September 2018

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

article

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy

artículo científico publicado en 2003

Genetic variation affects de novo translocation frequency.

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype

artículo científico publicado en 2007

Genomewide expression profiles of rat model renal isografts from brain dead donors

artículo científico publicado en 2007

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis

artículo científico publicado en 2017

Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

artículo científico publicado en 2005

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

artículo científico publicado en 2018

Global Gene Expression Profiling in PPAR-γAgonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease ⬇️

artículo científico publicado el 13 de mayo de 2012

Global expression profiles in 1-hour biopsy specimens of human kidney transplantation from donors after cardiac death

artículo científico publicado en 2009

Global gene expression profiling in early-stage polycystic kidney disease in the Han:SPRD Cy rat identifies a role for RXR signaling ⬇️

artículo científico publicado el 6 de octubre de 2010

Global gene expression profiling of renal scarring in a rat model of pyelonephritis

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Impact of DPYD, DPYS and UPB1 gene variations on severe drug-related toxicity in cancer patients

artículo científico publicado en 2020

Impact of indoleamine 2,3-dioxygenase on the antioxidant system in the placentas of severely pre-eclamptic patients ⬇️

artículo científico publicado el 1 de julio de 2011

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

artículo científico publicado en 2009

Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients.

artículo científico publicado en 2008

Increased levels of soluble corin in pre-eclampsia and fetal growth restriction

artículo científico publicado en 2016

Increased urinary neutrophil gelatinase associated lipocalin levels in a rat model of upper urinary tract infection

scientific journal article

Increased water intake decreases progression of polycystic kidney disease in the PCK rat

artículo científico publicado en 2006

Inherited chromosomally integrated human herpesvirus 6 is a risk factor for spontaneous abortion

scientific article published on 28 September 2020

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

artículo científico publicado en 2017

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease

artículo científico publicado en 2015

Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti

artículo científico publicado en 2021

Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome

artículo científico publicado en 2018

MTA3 regulates CGB5 and Snail genes in trophoblast ⬇️

artículo científico publicado el 17 de marzo de 2013

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

artículo científico publicado en 2011

Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)

artículo científico publicado en 2006

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

artículo científico publicado en 2020

Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency

artículo científico publicado en 2014

Molecular basis of maternal age‐related increase in oocyte aneuploidy ⬇️

artículo científico publicado el 1 de marzo de 2012

Molecular cloning of a translocation breakpoint hotspot in 22q11.

artículo científico publicado en 2007

Mouse model for allogeneic immune reaction against fetus recapitulates human pre-eclampsia

artículo científico publicado en 2008

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

artículo científico publicado en 2018

Mutations of the SYCP3 gene in women with recurrent pregnancy loss

artículo científico publicado en 2008

Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation

scientific article published on 08 January 2019

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

artículo científico publicado en 2017

Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation

artículo científico publicado en 2020

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

artículo científico publicado en 2019

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

artículo científico publicado en 2017

PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Palindrome-mediated chromosomal translocations in humans

artículo científico publicado en 2006

Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy ⬇️

artículo científico publicado el 5 de octubre de 2011

Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case

artículo científico publicado en 2014

Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia

scientific article published on 01 October 2020

Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin

artículo científico publicado en 2010

Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss ⬇️

artículo científico publicado el 2 de febrero de 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Potentially effective method for fetal gender determination by noninvasive prenatal testing for X-linked disease

artículo científico publicado en 2018

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

artículo científico publicado en 2015

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure

scientific article published on 01 December 2019

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure

artículo científico publicado en 2020

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

artículo científico publicado en 2018

Prenatal genetic testing for familial severe congenital protein C deficiency

artículo científico publicado en 2015

Prevalence of Emanuel syndrome: theoretical frequency and surveillance result

artículo científico publicado en 2014

Prostate Stem Cell Antigen Gene Polymorphism Is Associated with H. pylori-related Promoter DNA Methylation in Nonneoplastic Gastric Epithelium

artículo científico publicado en 2019

Ras/MEK pathway is required for NGF-induced expression of tyrosine hydroxylase gene

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

scientific journal article

Serum liver-type fatty acid-binding protein predicts recovery of graft function after kidney transplantation from donors after cardiac death

artículo científico publicado en 2014

Serum neutrophil gelatinase associated lipocalin during the early postoperative period predicts the recovery of graft function after kidney transplantation from donors after cardiac death

artículo científico publicado en 2012

Serum neutrophil gelatinase-associated lipocalin as a predictor of organ recovery from delayed graft function after kidney transplantation from donors after cardiac death

artículo científico publicado en 2008

Serum tissue inhibitor of metalloproteinases 1 (TIMP-1) predicts organ recovery from delayed graft function after kidney transplantation from donors after cardiac death

artículo científico publicado en 2010

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

artículo científico publicado en 2018

Signature of backward replication slippage at the copy number variation junction

artículo científico publicado en 2014

Single gene disorder

artículo científico publicado en 2005

Successful living donor liver transplantation for classical maple syrup urine disease

artículo científico publicado en 2016

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

artículo científico publicado en 2015

The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis

scientific article published on 16 July 2020

The DNA Damage Checkpoint Eliminates Mouse Oocytes with Chromosome Synapsis Failure.

artículo científico publicado en 2017

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

artículo científico publicado en 2003

The etiological role of allogeneic fetal rejection in pre-eclampsia

artículo científico publicado en 2007

The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

artículo científico publicado en 2020

Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound

artículo científico publicado en 2018

Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2

artículo científico publicado en 2022

Two different forms of palindrome resolution in the human genome: deletion or translocation.

artículo científico publicado en 2008

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

artículo científico publicado el 1 de enero de 2013

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

scientific article published on 18 July 2018

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach

artículo científico publicado en 2020

Urinary neutrophil-gelatinase associated lipocalin is a potential noninvasive marker for renal scarring in patients with vesicoureteral reflux

artículo científico publicado en 2010

Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events

artículo científico publicado en 2015

Lista de obras de

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate

A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

A PDE3A mutation in familial hypertension and brachydactyly syndrome

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) ⬇️

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

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

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 ⬇️

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

A simple cytogenetic method to detect chromosomally integrated human herpesvirus-6.

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient.

Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm

Age-related decrease of meiotic cohesins in human oocytes

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

An immunocompetent child with chromosomally integrated human herpesvirus 6B accidentally identified during the care of Mycoplasma pneumoniae infection

Analysis of gene-expression profiles by oligonucleotide microarray in children with influenza

Analysis of nitric oxide metabolism as a placental or maternal factor underlying the etiology of pre-eclampsia

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

Analysis of the origin of inherited chromosomally integrated human herpesvirus 6 in the Japanese population

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation

Androgen receptor pathway in rats with autosomal dominant polycystic kidney disease

Annexin A5 haplotype M2 is not a risk factor for recurrent spontaneous abortion in Northern Europe: is there sufficient evidence?

Authors' response to the letter of Nagirnaja et al., "Response to annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?".

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

CD9 gene variations are not associated with female infertility in humans

Candidate genes for male factor infertility--validation

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

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

Chromosomal translocations and palindromic AT-rich repeats ⬇️

Chromosomal translocations mediated by palindromic DNA.

Chromosomally integrated human herpesvirus 6 in the Japanese population

Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

Clinical utility of target capture-based panel sequencing in hematological malignancies: a multicenter feasibility study

Coinfection With Human Herpesvirus (HHV)-6B in Immunocompetent, Healthy Individuals With Chromosomally Integrated HHV-6A

Comparative gene expression profiling of placentas from patients with severe pre-eclampsia and unexplained fetal growth restriction ⬇️

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

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

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations

Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats

DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication

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

Decreased expression of apelin in placentas from severe pre-eclampsia patients ⬇️

Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6.

Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

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

Expression analysis of a mouse orthologue of HSFY, a candidate for the azoospermic factor on the human Y chromosome

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

Failure of homologous synapsis and sex-specific reproduction problems ⬇️

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy

Genetic variation affects de novo translocation frequency.

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

Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype

Genomewide expression profiles of rat model renal isografts from brain dead donors

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis

Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

Global Gene Expression Profiling in PPAR-γAgonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease ⬇️

Global expression profiles in 1-hour biopsy specimens of human kidney transplantation from donors after cardiac death

Global gene expression profiling in early-stage polycystic kidney disease in the Han:SPRD Cy rat identifies a role for RXR signaling ⬇️

Global gene expression profiling of renal scarring in a rat model of pyelonephritis

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

Impact of DPYD, DPYS and UPB1 gene variations on severe drug-related toxicity in cancer patients