K. Muroya

发表

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

T. Ogata, R. Kosaki, K. Kosaki, 2002, The Journal of clinical endocrinology and metabolism.

Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy.

K. Muroya, H. Goto, H. Kigasawa, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Abnormal Adipose Tissue Distribution with Unfavorable Metabolic Profile in Five Children Following Hematopoietic Stem Cell Transplantation: A New Etiology for Acquired Partial Lipodystrophy

K. Muroya, H. Goto, H. Kigasawa, 2013, Clinical Pediatric Endocrinology.

The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females

Y. Fukushima, T. Ogata, H. Ohashi, 2003, Cytogenetic and Genome Research.

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.

T. Ogata, K. Muroya, T. Nagai, 2010, Molecular genetics and metabolism.

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

T. Ogata, K. Kurosawa, K. Muroya, 2021, Journal of Human Genetics.

Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors—a high Apo B level and increased small dense LDL-cholesterol

K. Muroya, M. Adachi, Y. Asakura, 2009, Child's Nervous System.

Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey

K. Muroya, H. Goto, M. Adachi, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation

Y. Hasegawa, K. Muroya, T. Hasegawa, 2014, Hormone Research in Paediatrics.

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification

K. Fujita, N. Aida, K. Muroya, 2010, American journal of medical genetics. Part A.

Micropenis and the AR Gene: mutation and CAG repeat-length analysis.

K. Kosaki, K. Muroya, N. Matsuo, 2001, The Journal of clinical endocrinology and metabolism.

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.

M. Yasui, Y. Abe, K. Muroya, 2009, The Journal of clinical endocrinology and metabolism.

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

T. Ogata, Hiroyuki Tanaka, S. Ida, 2017, Endocrine journal.

Individual Variation of the Genetic Response to Bisphenol A in Human Foreskin Fibroblast Cells Derived from Cryptorchidism and Hypospadias Patients

T. Ogata, H. Sone, J. Yonemoto, 2012, PloS one.

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

A. Enomoto, T. Ogata, H. Endou, 2004, Pediatric Nephrology.

Fluctuation of blood glucose levels in an infant with an ileostomy on continuous glucose monitoring: A case report

Seiichi Tomotaki, K. Muroya, M. Adachi, 2018, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

K. Muroya, T. Hasegawa, Satoshi Narumi, 2011, The Journal of clinical endocrinology and metabolism.

Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte‐Derived Macrophages

H. Kusuhara, S. Ito, H. Takikawa, 2020, Hepatology communications.

The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism

K. Muroya, M. Adachi, Y. Asakura, 2015, Thyroid Research.

Impaired urinary water excretion in a three-generation family

T. Ogata, S. Ishikawa, Takako Saito, 2001, Pediatric Nephrology.

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

M. Itakura, H. Inoue, K. Muroya, 2013, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism.

T. Ogata, T. Nakada, I. Sasagawa, 2001, Fertility and sterility.

Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis.

T. Ogata, T. Nakada, I. Sasagawa, 2001, Human reproduction.

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3–Xp22.11

T. Ogata, T. Kamimaki, K. Muroya, 1999, Journal of medical genetics.

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

F. Glorieux, H. Cheong, E. Sochett, 2019, The Lancet.

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

T. Ogata, Hiroyuki Tanaka, N. Azuma, 2010, The Journal of clinical endocrinology and metabolism.

Additional report on Moreno‐Nishimura‐Schmidt overgrowth syndrome

G. Nishimura, K. Muroya, T. Ishii, 2017, American journal of medical genetics. Part A.

Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation

Yukichi Tanaka, K. Muroya, Y. Yamazaki, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

Y. Fukushima, T. Ogata, J. Hata, 1997, Journal of medical genetics.

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report

Yukichi Tanaka, G. Nishimura, N. Aida, 2015, American journal of medical genetics. Part A.

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

F. Glorieux, H. Cheong, E. Sochett, 2019, The Lancet.

Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial

K. Ozono, T. Kubota, Y. Seino, 2022, Journal of the Endocrine Society.

Burosumab versus continuation of conventional therapy in children with X-linked hypophosphatemia: a randomised, active-controlled, open-label, phase 3 trial

Farzana, F. Glorieux, H. Cheong, 2020 .

Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family.

T. Ogata, K. Muroya, M. Tsukahara, 1998, American journal of medical genetics.

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern

Y. Fukushima, T. Ogata, Donna M. Brown, 1998, Human Genetics.

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature

Toshiaki Tanaka, T. Kamimaki, N. Namba, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Increased Na reabsorption via the Na–Cl cotransporter in autosomal recessive pseudohypoaldosteronism

K. Fujieda, K. Muroya, S. Uchida, 2010, Clinical and Experimental Nephrology.

Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages

H. Kusuhara, Y. Hirose, H. Kondou, 2017, EBioMedicine.

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

K. Nagao, C. Obuse, T. Ogata, 2020, Scientific Reports.

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

T. Ogata, H. Ohashi, G. Nishimura, 1999, The Journal of clinical endocrinology and metabolism.

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

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

Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

Kazuki Saito, K. Muroya, M. Fukami, 2018, Cytogenetic and Genome Research.

47,XXX male: A clinical and molecular study.

T. Ogata, K. Fukutani, K. Muroya, 2001, American journal of medical genetics.

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Y. Fukushima, G. Rappold, T. Ogata, 2000, American journal of medical genetics.

Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature

K. Muroya, T. Hasegawa, M. Adachi, 2014, Hormone Research in Paediatrics.

Acid–Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis

K. Mizuno, K. Muroya, M. Adachi, 2022, Journal of the Endocrine Society.

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis

T. Ogata, Hiroyuki Tanaka, Y. Matsubara, 2016, Journal of Human Genetics.

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities

H. Wada, T. Ogata, T. Urakami, 2014, Journal of Human Genetics.

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.

K. Muroya, T. Hasegawa, Satoshi Narumi, 2012, European journal of endocrinology.

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.

Y. Fukushima, T. Ogata, K. Muroya, 2002, American journal of medical genetics.

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Y. Fukushima, S. Fujimoto, T. Ogata, 2001, Journal of medical genetics.

Short report Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS 15 : further evidence for the assignment of the critical region for a pseudoautosomal growth gene ( s )

Y. Fukushima, G. Rappold, T. Ogata, 2022 .

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

T. Ogata, G. Nishimura, H. Kitoh, 2002, The Journal of clinical endocrinology and metabolism.

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

A. Rosenthal, A. Rump, G. Nordsiek, 1997, Nature Genetics.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

A. Ballabio, G. Rappold, T. Ogata, 1996, American journal of medical genetics.

CAG repeat length analysis and mutation screening of the androgen receptor gene in Japanese men with idiopathic azoospermia.

T. Ogata, T. Nakada, I. Sasagawa, 2001, Journal of andrology.

Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

S. Takada, Y. Ogawa, R. Sekido, 2021, American journal of medical genetics. Part A.

Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.

T. Ogata, K. Tachibana, T. Yorifuji, 2001, The Journal of clinical endocrinology and metabolism.

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.

T. Nakada, I. Sasagawa, T. Ishii, 2001, Molecular human reproduction.

Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases.

Y. Fukushima, T. Ogata, T. Okuyama, 2000, The Journal of clinical endocrinology and metabolism.

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

K. Ihara, Y. Hasegawa, R. Fukuzawa, 2016, European journal of endocrinology.

Female gonadal development in XX patients with distal 9p monosomy.

T. Ogata, H. Ohashi, M. Kaji, 2001, European journal of endocrinology.

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Y. Hasegawa, K. Muroya, T. Hasegawa, 2014, European journal of endocrinology.

Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.

Yukichi Tanaka, K. Muroya, T. Hasegawa, 2018, Endocrine journal.

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

T. Ogata, K. Tachibana, K. Muroya, 2000, Human Genetics.

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

H. Okano, K. Ihara, T. Hara, 2016, Nature Genetics.

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

R. Kosaki, K. Kosaki, C. Torii, 2007, Genetic testing.

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

V. Beneš, A. Ballabio, W. Ansorge, 2000, American journal of human genetics.

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

Y. Fukushima, T. Ogata, K. Kosaki, 1999, American journal of medical genetics.

SHOX far‐downstream copy‐number variations involving cis‐regulatory nucleotide variants in two sisters with Leri‐Weill dyschondrosteosis

K. Muroya, M. Fukami, M. Miyado, 2019, American journal of medical genetics. Part A.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

T. Ogata, K. Ito, H. Ohashi, 2000, Kidney international.

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.

M. Yamada, T. Satoh, N. Matsuura, 2019, The Journal of clinical endocrinology and metabolism.

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

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

A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors

C. Shimizu, K. Ozono, T. Yorifuji, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

K. Muroya, T. Hasegawa, Satoshi Narumi, 2010, The Journal of clinical endocrinology and metabolism.

A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth

T. Ogata, K. Nakabayashi, K. Kurosawa, 2018, Journal of Medical Genetics.

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper.

F. Hirahara, K. Muroya, M. Adachi, 2012, European journal of endocrinology.

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.

K. Kosaki, K. Fujita, K. Kurosawa, 2008, The Journal of clinical endocrinology and metabolism.

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

T. Mitsui, T. Ogata, Y. Matsubara, 2015, Human reproduction.

Abnormal Basiocciput Development in CHARGE Syndrome

K. Fujita, T. Niwa, G. Nishimura, 2009, American Journal of Neuroradiology.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review

Yukichi Tanaka, A. Ohtake, K. Murayama, 2015, European Journal of Pediatrics.

DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations

Toshiaki Tanaka, A. Umezawa, N. Namba, 2019, Cytogenetic and Genome Research.

Female carriers of Xp22.3 deletion including MRX locus.

T. Ogata, K. Muroya, M. Matsuo, 1999, American journal of medical genetics.

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Y. Fukushima, G. Rappold, T. Ogata, 1995, Human Genetics.

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

Keisuke Nagasaki, Tomohiro Ishii, Tomonobu Hasegawa, 2011, The Journal of clinical endocrinology and metabolism.

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

B. Burwinkel, R. Sokol, K. Narisawa, 1998, Human Genetics.

First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation

G. Nishimura, K. Kurosawa, K. Muroya, 2012, American journal of medical genetics. Part A.

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)

Y. Fukushima, G. Rappold, T. Ogata, 1995, Journal of medical genetics.

Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl

H. Moritake, K. Takekoshi, K. Muroya, 2015, European Journal of Pediatrics.

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene★

T. Ogata, T. Nakada, I. Sasagawa, 2001, Clinical endocrinology.

Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement.

F. Hirahara, K. Muroya, M. Adachi, 2014, Endocrine journal.

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

Y. Hasegawa, K. Muroya, T. Hasegawa, 2012, PloS one.

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Yukichi Tanaka, K. Kurosawa, T. Fukuda, 2018, Molecular genetics and metabolism reports.

Growth Hormone Response to GH-Releasing Peptide-2 in Children

K. Muroya, M. Adachi, Y. Asakura, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation

K. Abe, K. Muroya, T. Hasegawa, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

K. Muroya, T. Tajima, M. Adachi, 2013, Journal of Medical Case Reports.

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.

K. Muroya, T. Hasegawa, K. Nagasaki, 2020, The Journal of clinical endocrinology and metabolism.

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.

K. Abe, T. Abe, K. Muroya, 2018, European journal of endocrinology.

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers

K. Muroya, A. Yoshino, S. Kawamoto, 2020, Pediatric Nephrology.

Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.

K. Muroya, M. Adachi, Y. Asakura, 2012, Thyroid : official journal of the American Thyroid Association.

Androgen Receptor Gene and Male Genital Anomaly

T. Ogata, I. Sasagawa, K. Muroya, 2002, Archives of andrology.

GATA3 abnormalities in six patients with HDR syndrome.

T. Ogata, Yoshimi Suzuki, K. Muroya, 2011, Endocrine journal.

Identification of Novel Low-Dose Bisphenol A Targets in Human Foreskin Fibroblast Cells Derived from Hypospadias Patients

T. Ogata, H. Sone, J. Yonemoto, 2012, PloS one.

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development

T. Ogata, K. Tachibana, K. Muroya, 2000, Human Genetics.

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

F. Glorieux, H. Cheong, Hiroyuki Tanaka, 2021, Calcified Tissue International.

Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.

T. Ogata, K. Kosaki, K. Muroya, 2000, American journal of medical genetics.

Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia.

T. Ogata, I. Sasagawa, K. Muroya, 2002, Fertility and sterility.

Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report

T. Yamakawa, K. Muroya, T. Hasegawa, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Refined mapping of the gene for otopalatodigital syndrome type I

T. Ogata, H. Ohashi, K. Muroya, 2002, Journal of medical genetics.

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

T. Takumi, T. Ogata, N. Iwatani, 1999, Diabetes.

Classic Bartter syndrome complicated with profound growth hormone deficiency

K. Muroya, T. Tajima, M. Adachi, 2013, International Journal of Pediatric Endocrinology.

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

K. Nagao, C. Obuse, T. Ogata, 2020, Scientific Reports.

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

T. Ogata, S. Kanzaki, Y. Naiki, 2015, Journal of Human Genetics.

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1

K. Abe, K. Muroya, T. Hasegawa, 2015, Hormone Research in Paediatrics.

Self-Administration of Burosumab in Children and Adults with X-Linked Hypophosphataemia in Two Open-Label, Single-Arm Clinical Studies

K. Ozono, Y. Takeuchi, Y. Imanishi, 2023, Advances in Therapy.

Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a

K. Muroya, T. Hasegawa, M. Adachi, 2009, International journal of endocrinology.

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1

K. Muroya, T. Tajima, M. Adachi, 2020, CEN Case Reports.

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

Y. Tsurusaki, G. Nishimura, K. Kurosawa, 2020, Human Genome Variation.

Prevalence of Obesity, Hyperlipemia and Insulin Resistance in Children with Suprasellar Brain Tumors

T. Tsuchiya, K. Muroya, M. Adachi, 2007, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

N. Aida, K. Muroya, T. Hasegawa, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

Maki Fukami, Tsutomu Ogata, Mitsuo Itakura, 2010, Endocrine journal.

Neonatal case of classic maple syrup urine disease: Usefulness of 1H‐MRS in early diagnosis

N. Aida, K. Muroya, T. Hasegawa, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

PAX8 mutation disturbing thyroid follicular growth: a case report.

K. Kameyama, R. Fukuzawa, K. Muroya, 2011, The Journal of clinical endocrinology and metabolism.

Genetic Screening of a Population-Based Cohort of Japanese Patients Transcription Factor Mutations and Congenital Hypothyroidism: Systematic

K. Muroya, T. Hasegawa, M. Adachi, 2010 .

Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of 'HSCT-associated lipodystrophy'.

K. Muroya, M. Adachi, Y. Asakura, 2020, Endocrine journal.

CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism.

T. Ogata, T. Nakada, I. Sasagawa, 2000, Molecular human reproduction.