S. Mizuno

发表

KDM6A Point Mutations Cause Kabuki Syndrome

N. Niikawa, N. Matsumoto, M. Shiina, 2013, Human mutation.

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

S. Mizuno, K. Kurosawa, Hiroko Shimbo, 2017, Molecular genetics & genomic medicine.

Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome

Seiji Mizuno, Masahiro Hirai, N. Kurahashi, 2013, Front. Hum. Neurosci..

Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

S. Kuriyama, T. Ogata, H. Ohashi, 2012, American journal of medical genetics. Part A.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Toshihiko Ogura, Kenji Kurosawa, Yoichi Matsubara, 2013, American journal of human genetics.

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

J. Inazawa, S. Saitoh, A. Hata, 2016, Journal of Human Genetics.

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

R. Hennekam, S. Hopman, H. Ohashi, 2010, Journal of Human Genetics.

Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome

Kazuyoshi Watanabe, A. Okumura, T. Negoro, 2005, Brain and Development.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

K. Kosaki, T. Takenouchi, S. Mizuno, 2020, American journal of medical genetics. Part A.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)

S. Mizuno, N. Wakamatsu, Tsuyoshi Morishita, 2017, Oncotarget.

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes

R. Fodde, T. Ogata, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

O. Ohara, A. Hijikata, Y. Hiraki, 2017, Scientific Reports.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

J. Inazawa, K. Ihara, Kyoko Watanabe, 2011, Journal of Human Genetics.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

H. Ohashi, Y. Matsubara, N. Okamoto, 2018, Human Genetics.

Age‐dependent change in behavioral feature in Rubinstein‐Taybi syndrome

R. Kosaki, K. Kosaki, Takao Takahashi, 2012, Congenital anomalies.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

T. Ogata, S. Saitoh, R. Kosaki, 2017, Genetics in Medicine.

Coffin–Siris syndrome is a SWI/SNF complex disorder

N. Matsumoto, Y. Makita, H. Ohashi, 2014, Clinical genetics.

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas

K. Yamazawa, T. Ogata, K. Matsuoka, 2008, Journal of Molecular Medicine.

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Y. Makita, N. Okamoto, S. Mizuno, 2012, American journal of medical genetics. Part A.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Molecular genetic analysis of 30 families with Joubert syndrome

H. Shiraishi, N. Matsumoto, S. Saitoh, 2016, Clinical genetics.

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

N. Nomura, K. Kosaki, T. Ono, 2010, American journal of medical genetics. Part A.

The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

K. Yokochi, N. Nomura, R. Kosaki, 2014, American journal of medical genetics. Part A.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Ophthalmic features of CHARGE syndrome with CHD7 mutations

R. Kosaki, K. Kosaki, N. Okamoto, 2012, American journal of medical genetics. Part A.

CDKL5 alterations lead to early epileptic encephalopathy in both genders

H. Ikeda, T. Okanishi, H. Oguni, 2011, Epilepsia.

Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

S. Mizuno, Y. Muramatsu, Miho Nakamura, 2017, Brain and Development.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

E. van Binsbergen, N. Matsumoto, S. Saitoh, 2022, Journal of Medical Genetics.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Y. Fukushima, N. Niikawa, N. Matsumoto, 2013, American journal of medical genetics. Part A.

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

N. Kurahashi, S. Saitoh, Kei Ohashi, 2018, Brain and Development.

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

S. Mizuno, N. Wakamatsu, D. Fukushi, 2011, American journal of medical genetics. Part A.

Mowat-Wilson syndrome: growth charts

J. Clayton-Smith, S. Bernasconi, R. Møller, 2020, Orphanet Journal of Rare Diseases.

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Y. Okuno, T. Yonekawa, S. Kojima, 2022, Scientific Reports.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation

O. Migita, J. Inazawa, A. Hata, 2008, American journal of medical genetics. Part A.

Atypical Sotos syndrome caused by a novel splice site variant

S. Mizuno, T. Tsuji, T. Kosho, 2022, Human Genome Variation.

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

S. Mizuno, A. Hattori, Yuji Nakamura, 2022, Journal of Human Genetics.

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

N. Ozaki, K. Ishizuka, H. Kidokoro, 2021, Scientific Reports.

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

Y. Fukushima, Y. Matsubara, T. Niihori, 2015, American journal of medical genetics. Part A.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

D. Baralle, C. Depienne, N. Matsumoto, 2019, American journal of human genetics.

Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome

S. Mizuno, T. Ishii, N. Wakamatsu, 2006, American journal of medical genetics. Part A.

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

K. Yoshiura, R. Kosaki, H. Ohashi, 2016, American journal of medical genetics. Part A.

A case of Tetrasomy 15q with left cleft lip and alveolus

S. Mizuno, N. Natsume, H. Imura, 2017 .

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Koichi Tabayashi, Kenji Kurosawa, Yoichi Matsubara, 2008, Journal of Human Genetics.

Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

Y. Fukushima, H. Ohashi, N. Okamoto, 2014, American journal of medical genetics. Part A.

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

K. Yamazawa, T. Ogata, K. Hata, 2013, PloS one.

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Y. Fukushima, J. Inazawa, S. Saitoh, 2011, Journal of Human Genetics.

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

H. Kurahashi, Y. Makita, S. Mizuno, 2017, Cytogenetic and Genome Research.

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

S. Saitoh, Yasuyoshi Oka, S. Mizuno, 2020, Journal of Human Genetics.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

D. Horn, M. Holtgrewe, K. Kosaki, 2021, Genetics in Medicine.

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas

Y. Okuno, S. Kojima, S. Mizuno, 2021, NPJ genomic medicine.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

K. Yamazawa, T. Ogata, A. Oka, 2017, Clinical Epigenetics.

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

T. Ogata, S. Mizuno, K. Nakabayashi, 2014, European Journal of Human Genetics.

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

Y. Fukushima, T. Ogata, Kyoko Takano, 2018, The Journal of clinical endocrinology and metabolism.

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

N. Okamoto, Eriko Nishi, S. Mizuno, 2016, Human Genome Variation.

Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila

N. Matsumoto, N. Miyake, Max H Stone, 2018, bioRxiv.

Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking

N. Kurahashi, M. Hirai, S. Mizuno, 2017, Journal of Neurodevelopmental Disorders.

Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome

N. Kurahashi, M. Hirai, S. Mizuno, 2016, Journal of Neurodevelopmental Disorders.

Intact attentional orienting towards inverted faces revealed by both manual responses and eye-movement measurement in individuals with Williams syndrome.

N. Kurahashi, M. Hirai, S. Mizuno, 2016, Journal of intellectual disability research : JIDR.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

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

H. Kurahashi, S. Mizuno, Toshiyuki Yamamoto, 2020, Human Genetics.

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

J. Inazawa, Y. Goto, I. Imoto, 2012, American journal of medical genetics. Part A.

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

M. Kubota, K. Kosaki, Y. Maegaki, 2015, Brain and Development.

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock–Carey syndrome phenotype

K. Kosaki, T. Takenouchi, S. Mizuno, 2016, American journal of medical genetics. Part A.

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

M. Nagasaki, K. Matsuo, F. Matsuda, 2020, Science advances.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Growth pattern of Rahman syndrome

K. Kosaki, T. Takenouchi, S. Mizuno, 2018, American journal of medical genetics. Part A.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Y. Fukushima, Y. Kuroki, N. Okamoto, 2005, Brain and Development.

Surgical intervention for esophageal atresia in patients with trisomy 18

Y. Fukushima, Tomohiko Nakamura, Eriko Nishi, 2014, American journal of medical genetics. Part A.

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

R. Kosaki, K. Kosaki, T. Takenouchi, 2017, European journal of medical genetics.

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

O. Migita, Y. Fukushima, S. Takada, 2023, bioRxiv.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

J. Inazawa, N. Okamoto, H. Osaka, 2017, PloS one.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome

S. Kojima, S. Mizuno, H. Muramatsu, 2009, International journal of hematology.

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

T. Tsunoda, M. Nakanishi, M. Yamasaki, 2017, BMC Medical Genetics.

Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications

J. Morton, A. Lehmann, S. Mizuno, 2020, American journal of medical genetics. Part A.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

H. Ohashi, Y. Matsubara, N. Okamoto, 2018, Human Genetics.

Development of visuospatial ability and kanji copying in Williams Syndrome.

R. Kakigi, Shoko Watanabe, S. Mizuno, 2009, Pediatric neurology.

Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study

N. Kurahashi, H. Sugiura, H. Kidokoro, 2020, Experimental Brain Research.

Comprehensive screening of CREB‐binding protein gene mutations among patients with Rubinstein‐Taybi syndrome using denaturing high‐performance liquid chromatography

R. Kosaki, K. Kosaki, Y. Makita, 2005, Congenital anomalies.

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK

A. Takata, N. Matsumoto, M. Shiina, 2017, Clinical genetics.

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

H. Kurahashi, M. Tsutsumi, S. Mizuno, 2020, Cytogenetic and Genome Research.

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

H. Kurahashi, S. Mizuno, H. Inagaki, 2022, Journal of Human Genetics.

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

N. Nomura, S. Mizuno, N. Wakamatsu, 2018, Gene.

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

J. Inazawa, A. Barkovich, J. Takanashi, 2012, American journal of medical genetics. Part A.

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

K. Kosaki, T. Takenouchi, Takao Takahashi, 2018, American journal of medical genetics. Part A.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking

N. Kurahashi, M. Hirai, S. Mizuno, 2017, Journal of Neurodevelopmental Disorders.

Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome

N. Kurahashi, M. Hirai, S. Mizuno, 2016, Journal of Neurodevelopmental Disorders.

Phenotype–genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

N. Nomura, T. Kinoshita, D. Motooka, 2017, Human mutation.

Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations

N. Kurahashi, N. Matsumoto, N. Miyake, 2017, Brain and Development.

Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome

M. Hayakawa, S. Mizuno, S. Shimizu, 2008, Clinical dysmorphology.

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation

N. Nomura, S. Mizuno, N. Wakamatsu, 2005, Congenital anomalies.

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

K. Ohno, A. Engel, S. Mizuno, 2023, Annals of clinical and translational neurology.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

K. Yamazawa, T. Ogata, Takanobu Inoue, 2017, Clinical Epigenetics.

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

K. Kosaki, T. Takenouchi, S. Mizuno, 2019, American journal of medical genetics. Part A.

6 Aneuploidy and Intellectual Disability

S. Mizuno, N. Wakamatsu, D. Fukushi, 2012 .

Aneuploidy and Intellectual Disability

S. Mizuno, N. Wakamatsu, D. Fukushi, 2012 .

Jacobsen syndrome associated with cleft lip: A patient report and review

S. Mizuno, K. Kurosawa, N. Natsume, 2015 .

A molecular deletion study with Southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype

N. Niikawa, S. Mizuno, S. Ishikiriyama, 1988, Japanese Journal of Human Genetics.

R3HDM1 haploinsufficiency is associated with mild intellectual disability

N. Nomura, S. Mizuno, N. Wakamatsu, 2021, American journal of medical genetics. Part A.

Atypical Sotos syndrome caused by a novel splice site variant

S. Mizuno, T. Tsuji, T. Kosho, 2022, Human Genome Variation.

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

K. Kosaki, T. Takenouchi, N. Okamoto, 2021, American journal of medical genetics. Part A.

Role of chimeric transcript formation in the pathogenesis of birth defects

K. Kosaki, T. Takenouchi, S. Mizuno, 2020, Congenital anomalies.

Prenatal diagnosis of X‐linked recessive Lenz microphthalmia syndrome

S. Saitoh, T. Kaname, S. Mizuno, 2013, The journal of obstetrics and gynaecology research.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

H. Cavé, A. Verloes, H. Ohashi, 2008, Journal of Human Genetics.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

K. Nakayama, T. Ogata, T. Ogura, 2013, American journal of human genetics.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

N. Nomura, K. Kosaki, T. Ono, 2010, American journal of medical genetics. Part A.

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

H. Kurahashi, H. Ohashi, S. Mizuno, 2023, Human Genetics.

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly

K. Kosaki, T. Takenouchi, S. Mizuno, 2024, American journal of medical genetics. Part A.