論文発表者 Authors

論文名 Title

JournalFujimura J, Nozu K, Yamamura T, Minamikawa S, Nakanishi K, Horinouchi T,Nagano C, Sakakibara N, Nakanishi K, Shima Y, Miyako K, Nozu Y, Morisada
N, Nagase H, Ninchoji T, Kaito H, Iijima K

Clinical and Genetic Characteristics in Patients
With Gitelman Syndrome.

Kidney Int Rep

Hashikami K, Asahina M, Nozu K, Iijima K, Nagata M, Establishment of X-linked Alport syndrome model mice
Biochem Biophys Rep
with a Col4a5 R471X mutation
Takeyama M

Volume Issue Pages
4119-125

1781-861791315-1318

Horinouchi T, Morisada N, Uemura H, Kobayashi D,Nozu K, Okamoto N, Iijima K:

Male CDPX2 patient with EBP mosaicism andasymmetrically lateralized skin lesions with strict
midline demarcation.

Am J Med Genet A

Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Nagano C,
Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y,Nagase H, Takeda H, Rossanti R, Kaito H, Matsuo M, Iijima K

Determination of the pathogenicity of known
COL4A5 intronic variants by in vitro splicingassay.

Sci Rep

912696

Mod Rheumatol

29970-976

Ishimori S, Kaito H, Shima Y, Kamioka I, Hamahira K, Nozu Clinicopathological characteristics and renal outcomes ofchildhood-onset lupus nephritis with acute kidney injury: AK, Nakanishi K, Tanaka R, Yoshikawa N, Iijima K
multicenter study.

Kyono Y, Nozu K, Nakagawa T, Takami Y, Fujita H,Ioroi T, Kugo M, Iijima K, Kamiyoshi N

Combination of furosemide and fludrocortisone as a loading
test for diagnosis of distal renal tubular acidosis in a pediatric CEN Case Rep
case.

Lee JM, Nozu K, Choi DE, Kang HG, Ha IS, CheongHI

Features of Autosomal Recessive Alport
Syndrome: A Systematic Review.

J Clin Med8Clinical characteristics of HNF1B-relateddisorders in a Japanese population.

Clin Exp Nephrol231119-1129

Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara
N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W,
Yoshikawa N, Iijima K

TGFBI-associated corneal dystrophy andnephropathy: a novel syndrome?

CEN Case Rep

814-17

Nagano C, Sako M, Kamei K, Ishikura K, Nakamura
H, Nakanishi K, Omori T, Nozu K, Iijima K

Study protocol: multicenter double-blind, randomized, placebo-controlled
trial of rituximab for the treatment of childhood-onset early-stage
uncomplicated frequently relapsing or steroid-dependent nephrotic
syndrome (JSKDC10 trial)

BMC Nephrol

20293

Nakanishi K, Okamoto T, Nozu K, Hara S, Sato Y, Hayashi A, Takahashi T,
Nagano C, Sakakibara N, Horinouchi T, Fujimura J, Minamikawa S, Yamamura
T, Rossanti R, Nagase H, Kaito H, Ariga T, Iijima K

Pair analysis and custom array CGH can detect a
Clin Exp Nephrolsmall copy number variation in COQ6 gene.

23669-675

Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K,
Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura
N, Horinouchi T, Minamikawa S, Nagata M, Iijima K

A review of clinical characteristics and genetic
backgrounds in Alport syndrome.

Clin Exp Nephrol,

23158-168

Okamoto T, Nozu K, Iijima K, Ariga T

Germline mosaicism is a pitfall in the diagnosis of"sporadic" X-linked Alport syndrome.

J Nephrol32

155-159

Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S,
Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe
S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S,Ishikura K, Ito S, Hattori M, Iijima K

Molecular assay for an intronic variant in NUP93
J Hum Genetthat causes steroid resistant nephrotic syndrome.

64673-679

Nozu K, Iijima K

Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T,Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C,Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K

Clinical spectrum of male patients with OFD1mutations.

J Hum Genet

64

3.-9

Pediatr Nephrol

34837-846

Mol Genet Genomic Med

7e883

Rossanti R, Shono A, Miura K, Hattori M, Yamamura T, Nakanishi K, Minamikawa S, Fujimura J,Horinouchi T, Nagano C, Sakakibara N, Kaito H, Nagase H, Morisada N, Asanuma K, Matsuo M,apanese Study Group of Kidney Disease in C: Lisinopril
Shima Y, Nakanishi K, Sako M, Saito-Oba M, Hamasaki Y, Hataya H, Honda
M, Kamei K, Ishikura K, Ito S, Kaito H, Tanaka R, Nozu K, Nakamura H, Ohashi versus lisinopril and losartan for mild childhood IgAY, Iijima K, Yoshikawa N
nephropathy: a randomized controlled trial (JSKDC01 study).
Yamamura T, Nozu K, Minamikawa S, Horinouchi T, Sakakibara N, Nagano C,Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Rossanti R, Ye MJ, Nozu
Y, Ishimori S, Morisada N, Kaito H, Iijima K

Comparison between conventional and comprehensive
sequencing approaches for genetic diagnosis of Alport
syndrome.

Uemura S , Ishida T, Mon
Dynamics of Minimal Residual Disease in Neuroblastoma
Thwin KK, Yamamoto N, Tamura A, Kishimoto K, Hasegawa D, Kosaka Y, Nino N, S
Front Oncol
Patientsan Lin K, Takafuji S, Mori T, Iijima K, Nishimura N

94553212 1744-1750

Int Cancer Conf J

83 95-100

Bone Marrow Transplant

5412 1926-1929

NakanoY, Hasegawa D, Stewart DR, Schultz KAP, Harris AK, Hirato J, Uemura
S, Tamura A, Saito A, Kawamura A,Yoshida M, Yamasaki K, Yamashita S, Ushijima T, Kosaka Y, Ichimura K,Dehner LP, Hill AD

Presacral Malignant Teratoid Neoplasm in
Association With Pathogenic DICER1 Variation

Mod Pathol

Mon Thwin KK, Ishida T, Uemura S, Yamamoto N, San
Lin K, Tamura A, Kozaki A, Saito A, Kishimoto K, Mori T, Hasegawa D, Kosaka Y,Nino N, Takafuji S, Iijima K, Nishimura N

Level of Seven Neuroblastoma-Associated mRNAs Detectedby Droplet Digital PCR Is Associated With Tumor
Relapse/Regrowth of High-Risk Neuroblastoma Patients

J Mol Diagn

Uemura S, Mori T, Nino N, Sakakibara N, Takafuji T, Myojin S, Takami Y, An infant with refractory cytomegalovirus‐induced
Morioka I, Nishimura N, Kugo M, Iijima K
thrombocytopenia

Tamura A, Yamamoto N, Nino N, Ichikawa T, Nakatani N,Nakamura S, Saito A, Kozaki A, Kishimoto K, Ishida T, Yoshida
M, Akasaka Y, Hasegawa D, Kosaka Y

Pazopanib maintenance therapy after tandem
high-dose chemotherapy for disseminated Ewingsarcoma

Clin Case Rep

Early posttransplant plasma ADAMTS13 activity reduction inKishimoto K, Hasegawa D, Kawasaki K, Tamura A, Yamamoto N, Saito A,
stem cell transplantation: a prospective study of 46 pediatricKozaki A, Ishida T, Kosaka Y.

patients

論文発表者 Authors

論文名 Title

JournalUchida A, Tanimura K, Morizane M, Fujioka K, Morioka I,Oohashi M, Minematsu T, Yamada H.

Clinical factors associated with congenital cytomegalovirus
infection: A cohort study of pregnant women and newborns.

Clin Infect Dis.

Nakasuji Y, Tanimura K, Sasagawa Y, Imafuku H, Morizane
Case report of eight pregnant women with syphilis.
M, Fujioka K, Ohji G, Yamada H.
Yamamoto K, Fukushima S, Mishima Y, Hashimoto M,
Yamakawa K, Fujioka K, Iijima K, Yano I.

Pharmacokinetic assessment of alprazolam-induced neonatal
abstinence syndrome using physiologically based pharmacokineticmodel.

Volume Issue Pages

J Infect Chemother.

Drug Metab Pharmacokinet.

34

6 400-402

Matsumoto M, Nagano N, Awano H, Ohyama S, Fujioka K, Incidence and Neonatal Risk factors of Short Stature and GrowthHormone treatment in Japanese Preterm Infants Born Small for
Iwatani S, Urakami T, Iijima K, Morioka I.
Gestational Age.

Sci Rep.

91

Ohyama S, Fujioka K, Fukushima S, Abe S, Ashina M, Ikuta T, Nishida K, Diagnostic Value of Cytomegalovirus IgM Antibodies at Birth in PCRMatsumoto H, Nakamachi Y, Tanimura K, Yamada H, Iijima K.
Confirmed Congenital Cytomegalovirus Infection.

Int J Mol Sci.

2013Prediction of poor neurological development in patients withFukushima S, Morioka I, Ohyama S, Nishida K, Iwatani S, Fujioka K,Mandai T, Matsumoto H, Nakamachi Y, Deguchi M, Tanimura K, Iijima K, symptomatic congenital cytomegalovirus diseases after oral
Yamada H.
valganciclovir treatment.

Brain Dev.

419 743-750

Ann Transl Med.

75Int J Mol Sci.

20

691

Abe S, Fujioka K.

Mesenchymal stem cell therapy for neonatal intraventricularhemorrhage: a long way to go?

Ohyama S, Morioka I, Fukushima S, Yamana K, Nishida K, Iwatani S,Efficacy of Valganciclovir Treatment Depends on the Severity ofFujioka K, Matsumoto H, Imanishi T, Nakamachi Y, Deguchi M, Tanimura Hearing Dysfunction in Symptomatic Infants with Congenital
K, Iijima K, Yamada H.
Cytomegalovirus Infection.

Htun Y, Nakamura S, Nakao Y, Mitsuie T, Nakamura M, Yamato S, Jinnai Hydrogen ventilation combined with mild hypothermia improves shortW, Koyano K, Ohta K, Morimoto A, Wakabayashi T, Sugino M, Fujioka K, term neurological outcomes in a 5-day neonatal hypoxia-ischaemia
Sci Rep.
Kato I, Kondo S, Yasuda S, Miki T, Ueno M, Kusaka T.
piglet model.
Iwatani S, Yoshida M, Yamana K, Kurokawa D, Kuroda J, Thwin KKM, Uemura S,
Takafuji S, Nino N, Koda T, Mizobuchi M, Nishiyama M, Fujioka K, Nagase H,
Morioka I, Iijima K, Nishimura N.

Isolation and Characterization of Human Umbilical Cordderived Mesenchymal Stem Cells from Preterm and Term
Infants.

Fukushima S, Fujioka K, Ashina M, Ohyama S, Ikuta T, Nishida K,Miyauchi H, Okata Y, Bitoh Y, Tanimura K, Deguchi M, Yamada H, Iijima
K.

Fetal Primary Small Bowel Volvulus Associated withKobe J Med Sci.
Acute Gastric Dilatation Detected by Ultrasonography.

J Vis Exp.

12238

794088143

64

4 E157-E159

Fujioka K, Nishida K, Ashina M, Abe S, Fukushima S, Ikuta T, Ohyama S, DNA methylation of the Rtl1 promoter in the placentas
Morioka I, Iijima K.
with fetal growth restriction.

Pediatr Neonatol.

60

5 512-516

Ashina M, Fujioka K, Totsu S, Shoji H, Miyazawa T,Wada K, Iijima K, Morioka I.

Pediatr Neonatol.

60

3 245-251

Feeding interval and use of donor breast milk for very
low birthweight infants: A nationwide survey in Japan.
A survey of the implementation status of selected

Suga S, Hoshina T, Ichikawa S, Araki S, Kusuhara K. infection control strategies in neonatal intensive care

J Hosp Infect.

units in Japan.

Miyauchi H, Fujioka K, Okubo S, Nishida K, Ashina M, Insulin Therapy for Hyperglycemia in Neonatal Sepsis
Using a Preterm Mouse Model.
Ikuta T, Okata Y, Maeda K, Iijima K, Bitoh Y.

Pediatr Int.

Nishiyama M, Nagase H, Tomioka K, Tanaka T, Yamaguchi H, Ishida Y, Toyoshima
D, Fujita K, Maruyama A, Sasaki K, Oyazato Y, Nakagawa T, Takami Y, Nozu K,
Nishimura N, Nakashima I, Iijima K

Clinical time course of pediatric acute disseminatedencephalomyelitis

Brain Dev

41

6 531-537

Tanaka T, Nagase H, Yamaguchi H, Ishida Y, Tomioka K, Nishiyama M, Toyoshima
D, Maruyama A, Fujita K, Nozu K, Nishimura N, Kurosawa H, Tanaka R, Iijima K

Predicting the outcomes of targeted temperature management forchildren with seizures and/or impaired consciousness accompanied
by fever without known etiology

Brain Dev

41

7 604-613

Pediatr Neurol

99

3–6

JMIR Res Protoc

86 e12102

Brain Dev

41

8 691-698

Yamaguchi H, Nagase H, Nishiyama M, Tokumoto S, Toyoshima Fibrocartilaginous Embolism of the Spinal Cord in Children: A Case
Report and Review of Literature
D, Akasaka Y, Maruyama A, Iijima K

Awano H, Nagai M, Bo R, Murao M, Ishida Y, Tanaka T,Tomioka K, Nishiyama M, Nagase H, Iijima K

Preliminary Effectiveness and Safety of High Frequency Oscillation in Addition
to Mechanical Insufflation and Exsufflation for Intratracheal Mucus Removal inPatients With Neuromuscular Disease: Protocol for a Prospective Study

Tomioka K, Nishiyama M, Nagase H, Ishida Y, Tanaka T,
Detailed clinical course of fatal acute encephalopathy inTokumoto S, Yamaguchi H, Toyoshima D, Maruyama A, Fujita K,
children
Aoki K, Seino Y, Nozu K, Nishimura N, Kurosawa H, Iijima K
Nishimura A, Yamaguchi H, Ito Y, Tokumoto S, Toyoshima D, Kasai M,Maruyama A

Empyema necessitatis due to Pseudomonas
aeruginosa in a child with cerebral palsy

J Infect Public Health

Yamada Y, Yamaguchi H, Ito Y, Takeuchi N, Kasai M

Pyogenic sacroiliitis caused by pneumococcal
serotype 16F in a child

Pediatr Int

Yamaguchi H, Maruyama A

Reply to the comments on "Spontaneous spinal
epidural hematoma mimicking Guillain-Barre
Syndrome".

Brain Dev

41

9 827-828

Yamaguchi H, Nagase H, Yoshida S, Tokumoto S, Hayashi K, Toyoshima
D, Kurosawa H, Tanaka T, Maruyama A, Iijima K.

Acute encephalopathy with biphasic seizures and late
reduced diffusion accompanied by Takotsubo
cardiomyopathy

Brain Dev

41

3 305-309

Volume Issue Pages

論文発表者 Authors

論文名 Title

JournalNagao H, Yamaguchi, H, Ito Y, Kasai M

Infective Endocarditis Due to Streptococcus
gallolyticus subsp. pasteurianus with Pulmonary Vein
Obstruction

Indian J Pediatr

86

J Pediatr

207

Yamaguchi H, Nagase H, Nishiyama M, Tokumoto S, Ishida Y, Tomioka K, Tanaka T, Nonconvulsive Seizure Detection by Reduced-LeadFujita K, Toyoshima D, Nishimura N, Kurosawa H, Nozu K, Maruyama A, Tanaka R, Electroencephalography in Children with Altered Mental Status in theIijima K
Emergency Department

2192213-219

Kato H, Yamaguchi H, Ito Y, Imuta N, Nishi J, Kasai M

Escherichia coli O157 Enterocolitis Followed by Non-diarrheagenic
Escherichia coli Bacteremia

Indian J Pediatr

86

8Kondo A, Yamaguchi H, Ishida Y, Toyoshima D, Azumi M, Akutsu N,Koyama J, Kurosawa H, Kawamura A, Maruyama A

Spontaneous spinal epidural hematoma mimicking
Guillain-Barre Syndrome

Brain Dev

414 392-395Biochemical and BiophysicalResearch Communications

508

2 640-645

Rani AQM, Farea MA, Maeta K, Kawaguchi T, Awano H, Nagai M, Identification of the shortest splice variant of Dp71,
Nishio H, Matsuo M
together with five known variants, in glioblastoma cells

750

Matsuo M, Awano H, Nishio H

Can urinary titin be used for predicting Duchenne
muscular dystrophy?

Clinica Chimica Acta

490

162

Matsumoto M, Awano H, Hirota Y, Nagai M, Bo R, Matsuoka
A, Hamaguchi T, Takeuchi T, Nakagawa Y, Ogawa W, Iijima K

The prescription rates of glucagon for
hypoglycemia by pediatricians and physicians are
low in Japan

Endocrine

642 233-238

Shimomura H, Lee T, Tanaka Y, Awano H, Itoh K, Nishino I, Takeshima Y

Two closely spaced mutations in cis result in Ullrich
congenital muscular dystrophy

Hum Genome Var

621

Matsuo M, Awano H, Maruyama N, Nishio H

Titin fragment in urine: A nonvasive biomarker ofmuscle degradation

Advances in Clinical Chemistry90

6 1-23

Katsuyama A, Kusuhara S, Awano F, Nagase H,Matsumiya W, Nakamura M

A case of probable Vogt–Koyanagi–Harada disease
BMC Ophthalmology
in a 3-year-old girl

191Rani AQM, Maeta K, Kawaguchi T, Awano H, Nagai
M, Nishio H, Matsuo M

Schwann cell-specific Dp116 is expressed inglioblastoma cells, revealing two novel DMD gene
splicing patterns

Biochemistry and Biophysics
Reports

20

Takeuchi A, Tode C, Nishino M, Wijaya YOS, Niba ETE, Awano H,
preparation from dried blood spot and DNA polymerase
Takeshima Y, Saito T, Saito K, Lai PS, Bouike Y, Nishio H, Shinohara M

Kobe J Med Sci

65

Komaki H, Maegaki Y, Matsumura T, Shiraishi K, Awano H, Nakamura A,Early phase 2 trial of TAS-205 in patients with Duchenne
Kinoshita S, Ogata K,Ishigaki K, Satio S, Funato M, Kuru S, Nakayama, T
muscular dystrophy
Iwata Y, Yajima H,Takeda S

Annals of Clinical andTranslational Neurology

179

Newborn screening for spinal muscular atrophy: DNA
selection in PCR

Yamaguchi H, Taniguchi-Ikeda M, Nagase H, Ito Y, Tokumoto S,Toyoshima D, Enkhjargal S, Nishiyama M, Awano H, Kurosawa H,Kasai M, Maruyama A, Iijima KAcute Rhabdomyolysis Following Viral Infection withCoxsackie A4 in a 50-Day-Old Infant with Fukuyama
Congenital Muscular Dystrophy

journal of infection andchemotherapy

6 E95-99