Eriko Nishi

发表

Chiasmata and the kinetochore component Dam1 are crucial for elimination of erroneous chromosome attachments and centromere oscillation at meiosis I

A. Yamamoto, Misuzu Wakiya, Eriko Nishi, 2020, Open Biology.

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

N. Okamoto, T. Kaname, Eriko Nishi, 2021, 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.

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Y. Fukushima, Kyoko Takano, Eriko Nishi, 2019, 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.

Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

Tomohiko Nakamura, Eriko Nishi, E. Hidaka, 2015, American journal of medical genetics. Part A.

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.

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

N. Spinner, Tomohiko Nakamura, Y. Ogiso, 2016, American journal of medical genetics. Part A.

CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR

K. Yamazawa, Eriko Nishi, M. Kagami, 2022, Journal of Medical Genetics.

Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray

M. Emi, T. Shiihara, T. Matsuishi, 2010, American journal of medical genetics. Part A.

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

K. Shirahige, T. Akiyama, P. Gressens, 2016, American journal of human genetics.

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

N. Okamoto, Eriko Nishi, Toshiyuki Yamamoto, 2020, Human Genetics.

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.

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment

Tomohiko Nakamura, Eriko Nishi, T. Kosho, 2018, American journal of medical genetics. Part A.

Surgical intervention for esophageal atresia in patients with trisomy 18

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

A Taz1- and Microtubule-Dependent Regulatory Relationship between Telomere and Centromere Positions in Bouquet Formation Secures Proper Meiotic Divisions

A. Yamamoto, Eriko Nishi, Kazuhiro Katsumata, 2016, PLoS genetics.

Position matters: multiple functions of LINC-dependent chromosome positioning during meiosis

S. Afrin, A. Yamamoto, Eriko Nishi, 2017, Current Genetics.

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution‐based detailed clinical observation

Tomohiko Nakamura, Eriko Nishi, M. Noguchi, 2018, American journal of medical genetics. Part A.

Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

K. Shirahige, Y. Katou, Eriko Nishi, 2015, Molecular Syndromology.

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

N. Matsumoto, N. Miyake, N. Okamoto, 2021, Brain and Development.

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.

Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study-

Yasuhiro Suzuki, H. Nishio, S. Ida, 2023, Brain and Development.

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.

Clinical spectrum of individuals with de novo EBF3 variants or deletions

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

Exome sequencing‐based identification of mutations in non‐syndromic genes among individuals with apparently syndromic features

K. Shirahige, Eriko Nishi, K. Masuda, 2016, American journal of medical genetics. Part A.

Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.

N. Okamoto, Yohei Minakuchi, Eriko Nishi, 2023, Journal of human genetics.

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

N. Matsumoto, N. Miyake, Eriko Nishi, 2023, American journal of medical genetics. Part A.

Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years

Eriko Nishi, Keiko Matsuda, Y. Hasegawa, 2024, Genes.

Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes

Kyoko Takano, Eriko Nishi, K. Wakui, 2023, Molecular Syndromology.