Search Results - "Hiroyo Mabe"
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Anorexia Nervosa during Adolescence Is Associated with Decreased Gray Matter Volume in the Inferior Frontal Gyrus
Published in PloS one (11-06-2015)“…Anorexia nervosa (AN) is an eating disorder characterized by the relentless pursuit to lose weight, mostly through self-starvation, and a distorted body image…”
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Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody
Published in Endocrine Journal (01-01-2023)“…Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland…”
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3
The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies
Published in The journal of clinical endocrinology and metabolism (01-12-2010)“…Context: Our understanding of inherited salt-losing tubulopathies has improved with recent advances in molecular genetics. However, the terminology of Bartter…”
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4
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
Published in Journal of human genetics (01-10-2011)“…Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, mental retardation and…”
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5
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
Published in Journal of human genetics (01-07-2016)“…The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number…”
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Epidemiology of anorexia nervosa in Japanese adolescents
Published in BioPsychoSocial medicine (14-08-2015)“…No epidemiologic survey examining eating disorders in Japan has been done at a national level since 1992. The prevalence of anorexia nervosa, as assessed by…”
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Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody
Published in ENDOCRINE JOURNAL (2023)“…[Abstract.] Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior…”
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8
NEUROD1‐deficient diabetes ( MODY6 ): Identification of the first cases in Japanese and the clinical features
Published in Pediatric diabetes (01-03-2018)Get full text
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9
Learning and memorization impairment in childhood chronic fatigue syndrome manifesting as school phobia in Japan
Published in Brain & development (Tokyo. 1979) (01-10-2004)“…For the last 15 years, we have tried to understand the pathophysiology of childhood chronic fatigue syndrome (CCFS) in Japan. In this condition, two major…”
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Advantages and limitations of estrogen replacement therapy on hypogonadal survivors of childhood cancer
Published in International journal of clinical oncology (01-11-2023)“…Background Hypogonadism is a significant late complication in childhood cancer survivors (CCS). The aim of this study was to elucidate the advantages and…”
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11
NEUROD1‐deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features
Published in Pediatric diabetes (01-03-2018)“…Aims Only a few families with neuronal differentiation 1 (NEUROD1)‐deficient diabetes, currently designated as maturity‐onset diabetes of the young 6 (MODY6),…”
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12
Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling
Published in Bone (New York, N.Y.) (01-12-2021)“…X-linked hypophosphatemic rickets (XLH) is an inheritable type of rickets caused by inactivating variants in the phosphate regulating endopeptidase homolog…”
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Long-term outcomes of multidisciplinary treatment combining surgery and stereotactic radiotherapy with Novalis for craniopharyngioma
Published in Journal of clinical neuroscience (01-02-2024)“…•Stereotactic radiotherapy for craniopharyngioma demonstrated good tumor control.•No late adverse events have occurred to date after stereotactic…”
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14
MLL2 and KDM6A mutations in patients with Kabuki syndrome
Published in American journal of medical genetics. Part A (01-09-2013)“…Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long…”
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15
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence
Published in Patient preference and adherence (31-08-2023)“…Although the treatment success of long-term growth hormone therapy (GHT) is dependent on maintaining patients' adherence to treatment, marked variations in…”
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16
Glucoregulatory disorders in school refusal students
Published in Clinical endocrinology (Oxford) (01-09-1997)“…OBJECTIVES Our previous studies demonstrated autonomic nervous system disorders and cerebral blood hypoperfusion in school refusal students with underlying…”
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Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-06-2019)“…Background In Japan, prophylactic thyroidectomy involves out-of-pocket expense. The American Thyroid Association (ATA) recommends prophylactic thyroidectomy…”
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18
Growth Hormone Advances Spermatogenesis in Premature Rats Treated with Gonadotropin-Releasing Hormone Agonist
Published in Endocrine Journal (1999)“…To clarify the effect of GH on the development of seminiferous tubules in premature male rats, we investigated whether GH accelerates spermatogenesis under the…”
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19
Pseudohypacusis in childhood and adolescence is associated with increased gray matter volume in the medial frontal gyrus and superior temporal gyrus
Published in Cortex (01-04-2012)“…Pseudohypacusis is a somatoform disorder characterized by hearing loss with discrepancies between pure-tone audiometry and auditory brainstem response (ABR),…”
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Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Published in Journal of medical genetics (01-06-2012)“…Deletions including chromosome 14 band q13 have been linked to variable phenotypes. With current molecular methods the authors aim to elucidate a…”
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