M. Masuno

发表

Further delineation of the behavioral and neurologic features in Costello syndrome

Y. Fukushima, H. Ohashi, K. Kurosawa, 2003, American journal of medical genetics. Part A.

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

S. Aftimos, D. Higgs, G. Neri, 1997, Nature Genetics.

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

Y. Makita, H. Ohashi, S. Ikegawa, 2004, Human Genetics.

Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl

K. Kurosawa, N. Aida, M. Masuno, 2012, American journal of medical genetics. Part A.

Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome

Yusuke Nakamura, H. Kurahashi, J. Ono, 1998, Human Genetics.

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients

R. Hanada, T. Ide, H. Tauchi, 1999, Journal of Human Genetics.

Genetic association analysis of 269 rare diseases reveals novel aetiologies

I. Yamanaka, S. Riazuddin, S. Mansour, 2022, medRxiv.

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

Yukichi Tanaka, Toshiyuki Yamamoto, K. Kurosawa, 2012, Congenital anomalies.

Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

Y. Kuroki, W. Fujimoto, K. Kadota, 2012, Congenital anomalies.

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

K. Kurosawa, J. Nagai, M. Masuno, 2019, Human Genome Variation.

Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.

Natural History of Cri-du-chat Syndrome

Y. Kuroki, M. Masuno, K. Imaizumi, 1998 .

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Y. Asano, M. Masuno, T. Otomo, 2022, Human Genome Variation.

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

S. Tomatsu, M. Masuno, T. Orii, 2004, Human Genetics.

Restriction Fragment Length Polymorphism Analysis in Healthy Japanese Individuals and Japanese Families with Gaucher Disease

M. Masuno, T. Orii, T. Taga, 1989, Acta paediatrica Japonica : Overseas edition.

Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients

T. Ogata, K. Tachibana, Yukichi Tanaka, 1999, Genes, chromosomes & cancer.

Further delineation of SET‐related intellectual disability syndrome

Y. Tsurusaki, K. Kurosawa, Yumi Enomoto, 2022, American journal of medical genetics. Part A.

Novel USP9X variants in two patients with X-linked intellectual disability

Y. Tsurusaki, Y. Kuroda, K. Kurosawa, 2019, Human Genome Variation.

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation

T. Fukao, N. Kondo, S. Fukuda, 1998, Clinical genetics.

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature

Yukichi Tanaka, K. Kurosawa, H. Yoshihashi, 2009, Congenital anomalies.

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Raoul C. M. Hennekam, Rachel H. Giles, Niels Tommerup, 1995, Nature.

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Y. Kuroki, T. Tsukamoto, Y. Suzuki, 1996, American journal of human genetics.

Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly.

Y. Suzuki, N. Shimozawa, M. Masuno, 1992, Experimental cell research.

Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n‐acetylgalactosamine‐6‐sulfate sulfatase gene in a classical Morquio disease

Y. Kuroki, N. Shimozawa, Yasuyuki Suzuki, 1996, Human mutation.

Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies.

M. Masuno, T. Orii, T. Orii, 1993, American journal of medical genetics.

Haploinsufficiency of NSD1 causes Sotos syndrome

Y. Fukushima, N. Niikawa, K. Yoshiura, 2002, Nature Genetics.

Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

C. Glass, T. Taki, M. Rosenfeld, 2001, Human molecular genetics.

Pure duplication of 19p13.3

K. Kurosawa, J. Nagai, M. Masuno, 2013, American journal of medical genetics. Part A.

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia

K. Kurosawa, H. Ishikawa, M. Masuno, 2012, Congenital anomalies.

Y. Fukushima, Y. Kuroki, M. Masuno, 1990, Japanese Journal of Human Genetics.

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

N. Niikawa, Y. Kuroki, K. Kurosawa, 2002, American journal of medical genetics.

Gonadal sex cord stromal tumor in a patient with Rubinstein−Taybi syndrome

K. Kurosawa, K. Fukutani, H. Kawame, 2002, Pediatrics international : official journal of the Japan Pediatric Society.

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2006, Genetic testing.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

K. Kosaki, Y. Kuroki, Y. Tsurusaki, 2020, American journal of medical genetics. Part A.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

M. Masuno, T. Otomo, T. Moriwaki, 2022, Human Genome Variation.

Hunter disease in a girl caused by R468Q mutation in the iduronate‐2‐sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele

H. Nishio, M. Matsuo, N. Shimozawa, 1997, Human mutation.

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

Y. Kuroda, K. Kurosawa, Yumi Enomoto, 2021, Clinical dysmorphology.

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

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

Interstitial deletion of 17pl 1.2 with brain abnormalities

T. Kuwahara, M. Masuno, M. Arai, 1992, Clinical genetics.

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome

N. Okamoto, Toshiyuki Yamamoto, G. Nishimura, 2005, American journal of medical genetics. Part A.

Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

H. Nagasawa, A. Uchiyama, M. Masuno, 2009, Congenital anomalies.

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Y. Fukushima, H. Tonoki, S. Nonoyama, 1999, Human Genetics.

Partial distal 12q trisomy with arachnoid cyst

Y. Fukushima, Y. Kuroki, M. Masuno, 1987, Japanese Journal of Human Genetics.

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73

K. Kurosawa, M. Masuno, Toshiyuki Saito, 2020, Congenital anomalies.

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.

S. Fukuda, S. Tomatsu, M. Masuno, 1993, Genomics.

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene

Y. Makita, H. Ohashi, S. Ikegawa, 1999, Clinical genetics.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

Terminal 7q deletion as a cause of holoprosencephaly

M. Masuno, T. Orii, 1990, Clinical genetics.

Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature

N. Kondo, S. Yamaguchi, M. Masuno, 1992, Japanese Journal of Human Genetics.

Interstitial deletion of the long arm of chromosome 11 determined by fluorescence in situ hybridization

M. Masuno, E. Takahashi, T. Orii, 1993, Japanese Journal of Human Genetics.

Neuroradiologic Findings in Sotos Syndrome

T. Asano, N. Matsumoto, N. Kondo, 2006, Journal of child neurology.

Male with type II autosomal recessive cutis laxa

Y. Makita, Y. Kuroki, K. Kurosawa, 1994, Clinical genetics.

Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.

N. Niikawa, H. Moriuchi, E. Kinoshita, 2000, American journal of medical genetics.

Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization.

T. Osumi, T. Hashimoto, S. Yamaguchi, 1992, Cytogenetics and cell genetics.

K. Hirokawa, M. Masuno, Jun-ichiro Asano, 2007 .

Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms.

N. Kondo, Kazuhiro Takahashi, T. Kuwahara, 2002, American journal of medical genetics.

Trends in occurrence of twin births in Japan

Y. Kuroki, K. Kurosawa, M. Masuno, 2012, American journal of medical genetics. Part A.

Life‐threatening cardiac involvement throughout life in a case of Costello syndrome

N. Shimozawa, T. Fukao, H. Ichihashi, 1996, Clinical genetics.

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

Y. Makita, M. Masuno, K. Tachibana, 1996, American journal of medical genetics.

A case of Noonan's syndrome with possible associated neuroblastoma

Yukichi Tanaka, M. Masuno, R. Ijiri, 2000, Pediatric Radiology.

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.