Tomonobu Hasegawa

Summary

Affiliation: Keio University
Country: Japan

Publications

  1. pmc Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism
    Masaki Takagi
    Department of Pediatrics, Keio University School of Medicine Tokyo, Japan
    PLoS ONE 7:e46008. 2012
  2. ncbi request reprint Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 96:E1340-5. 2011
  3. ncbi request reprint Age-dependent percentile for waist circumference for Japanese children based on the 1992-1994 cross-sectional national survey data
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Tokyo 160 8582, Japan
    Eur J Pediatr 166:655-61. 2007
  4. ncbi request reprint Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1
    Tomonobu Hasegawa
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 89:5930-5. 2004
  5. doi request reprint Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 95:1981-5. 2010
  6. ncbi request reprint Body mass index reference values (mean and SD) for Japanese children
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Acta Paediatr 96:1674-6. 2007
  7. doi request reprint Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Shinanomachi, Shinjuku ku, Tokyo, Japan
    Eur J Endocrinol 167:625-32. 2012
  8. ncbi request reprint Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis
    Tomohiro Ishii
    Department of Pediatrics, Keio University School of Medicine, National Research Institute for Child Health and Development, Tokyo, Japan
    J Urol 172:319-24. 2004
  9. doi request reprint Radiological evolution in IMAGe association: a case report
    Naoko Amano
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 146:2130-3. 2008
  10. doi request reprint PAX8 mutation disturbing thyroid follicular growth: a case report
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 96:E2039-44. 2011

Collaborators

Detail Information

Publications56

  1. pmc Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism
    Masaki Takagi
    Department of Pediatrics, Keio University School of Medicine Tokyo, Japan
    PLoS ONE 7:e46008. 2012
    ..3%. This study is the first to describe, a gradual loss of ACTH in a patient carrying an LHX4 mutation. Careful monitoring of hypothalamic-pituitary -adrenal function is recommended for CH patients with LHX4 mutations...
  2. ncbi request reprint Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 96:E1340-5. 2011
    ..To date, only one TSHR mutation-carrying family with discrepantly high RAIU has been reported...
  3. ncbi request reprint Age-dependent percentile for waist circumference for Japanese children based on the 1992-1994 cross-sectional national survey data
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Tokyo 160 8582, Japan
    Eur J Pediatr 166:655-61. 2007
    ..We present for the first time an age-dependent percentile for waist circumference for Japanese children. It is mandatory to standardize a benchmark site for waist circumference for more meaningful international comparison...
  4. ncbi request reprint Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1
    Tomonobu Hasegawa
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 89:5930-5. 2004
    ..The results suggest that SF-1 haploinsufficiency can selectively impair testicular development and permit the biosynthesis of AMH and testosterone in dysgenetic testes and the production of gonadotropins in pituitary gonadotropes...
  5. doi request reprint Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 95:1981-5. 2010
    ..Gene mutations of transcription factors that are predominantly expressed in the thyroid gland cause congenital hypothyroidism (CH). The prevalence of CH due to transcription factor mutations remains undetermined...
  6. ncbi request reprint Body mass index reference values (mean and SD) for Japanese children
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Acta Paediatr 96:1674-6. 2007
    ..CONCLUSIONS: The BMI-SD reference values and charts presented have appropriately reflected the age-dependent skewed distribution of BMI values, and could be a useful tool in growth and nutritional evaluation of Japanese children...
  7. doi request reprint Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Shinanomachi, Shinjuku ku, Tokyo, Japan
    Eur J Endocrinol 167:625-32. 2012
    ..It has remained unclear whether CH in PAX8 mutation carriers is caused by haploinsufficiency or a dominant negative mechanism...
  8. ncbi request reprint Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis
    Tomohiro Ishii
    Department of Pediatrics, Keio University School of Medicine, National Research Institute for Child Health and Development, Tokyo, Japan
    J Urol 172:319-24. 2004
    ....
  9. doi request reprint Radiological evolution in IMAGe association: a case report
    Naoko Amano
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 146:2130-3. 2008
    ..It is thought that the skeletal alterations in IMAGe association encompass retarded endochondral ossification normalized later on and mild metaphyseal dysplasia of postnatal onset...
  10. doi request reprint PAX8 mutation disturbing thyroid follicular growth: a case report
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 96:E2039-44. 2011
    ..Heterozygous inactivating PAX8 mutations cause congenital hypothyroidism. Although more than 30 mutation carriers have been reported, no histological examination of the thyroid has been conducted...
  11. ncbi request reprint Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients
    Goro Sasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 88:3431-6. 2003
    ..2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis...
  12. ncbi request reprint A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency
    Rie Yamaguchi
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431 3192, Japan
    Endocr J 60:855-9. 2013
    ..The results, in conjunction with the previous data, imply that NNT mutations account for 5-10% of FGD patients, and that underlying factor(s) still remains to be clarified in a substantial fraction of FGD patients. ..
  13. ncbi request reprint Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome
    Rie Yoshida
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 89:3359-64. 2004
    ....
  14. ncbi request reprint [Russell-Silver syndrome]
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine
    Nihon Rinsho . 2006
  15. doi request reprint Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 96:E1838-42. 2011
    ..Seven genes have been implicated in DH, including the dual oxidase 2 gene (DUOX2), the thyroglobulin gene (TG), and the thyroid peroxidase gene (TPO)...
  16. doi request reprint Tracking of BMI in Japanese children from 6 to 18 years of age: Reference values for annual BMI incremental change and proposal for size of increment indicative of risk for obesity
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Ann Hum Biol 38:146-9. 2011
    ..A large incremental increase in BMI indicates excess fat deposition in most children, but the reference values for identifying those at risk for developing obesity have not been defined...
  17. ncbi request reprint [11Beta-hydroxylase deficiency]
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine
    Nihon Rinsho . 2006
  18. ncbi request reprint A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation
    Masaki Takagi
    Department of Pediatrics, Keio University School of Medicine Tokyo, Tokyo, Japan
    Horm Res Paediatr 81:133-8. 2014
    ..Heterozygous SOX2 mutations have been reported to cause isolated hypogonadotropic hypogonadism (HH) in addition to ocular and brain abnormalities...
  19. doi request reprint A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression
    Ayuko S Suwanai
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Clin Endocrinol (Oxf) 78:957-65. 2013
    ..We report clinical and molecular findings for individuals (from two families) with NR5A1 mutations, showing psychiatric symptoms...
  20. doi request reprint A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum
    Masaki Takagi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Department of Endocrinology and Metabolism, Tokyo Metropolitan Children s Medical Center, Tokyo, Japan
    Eur J Med Genet 56:526-8. 2013
    ..Though the gene dosage of FOXG1 appears to be critical for the normal development of brain, the complex mechanism of its regulation of gene expression remains to be elucidated...
  21. ncbi request reprint A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu, Gifu 501 1194, Japan
    J Inherit Metab Dis 33:S307-13. 2010
    ..Significant residual activity from the T435N mutant allele may prevent the patient from developing permanent ketonuria...
  22. pmc A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta
    Masaki Takagi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    PLoS ONE 7:e36809. 2012
    ..Our study shows, for the first time, that the KDEL ER- retrieval sequence is essential for P3H1 functionality and that a defect in KDEL is sufficient for disease onset...
  23. doi request reprint Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11β-hydroxyandrosterone
    Yuhei Koyama
    Department of Laboratory Medicine, Keio University School of Medicine, Tokyo, Japan
    Clin Chem 58:741-7. 2012
    ..We established a 2-step biochemical differential diagnosis of C21OHD and PORD...
  24. ncbi request reprint Prevalence and trends of underweight and BMI distribution changes in Japanese teenagers based on the 2001 National Survey data
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine Tokyo, Japan
    Ann Hum Biol 34:354-61. 2007
    ..The prevalence of underweight in contemporary Japanese girls in comparison with that of boys, however, remains to be studied...
  25. doi request reprint The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias
    Tomohiro Ishii
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Urology 76:97-100. 2010
    ..To define the responses of stretched penile length (PL) to intramuscular testosterone enanthate (TE) treatment in prepubertal boys with hypospadias...
  26. ncbi request reprint Official Japanese reports significantly underestimate prevalence of overweight in school children: Inappropriate definition of standard weight and calculation of excess weight
    Mikako Inokuchi
    Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan
    Ann Hum Biol 36:139-45. 2009
    ..The obesity epidemic in Japan continues to increase. However, the prevalence and trends of obesity have not explicitly been determined in Japanese children...
  27. doi request reprint Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess
    Toshihiko Kasahara
    Department of Pediatrics, Higashitoyonaka Watanabe Hospital, Osaka, Japan
    Am J Med Genet A 161:214-7. 2013
    ..E327X] + [H678R]). This report provides a new example of environmental modification of phenotypes of CH due to a genetic defect, which can potentially distort screening results...
  28. doi request reprint TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 94:1317-23. 2009
    ..The prevalence of congenital hypothyroidism (CH) associated with mutations in the TSH receptor gene (TSHR) has not been established...
  29. ncbi request reprint Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 143:2838-42. 2007
  30. doi request reprint BMI z-score is the optimal measure of annual adiposity change in elementary school children
    Mikako Inokuchi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Ann Hum Biol 38:747-51. 2011
    ..The optimal measure of annual adiposity change in older age children, however, has not been determined...
  31. ncbi request reprint Premature ovarian failure in a female with proximal symphalangism and Noggin mutation
    Kenjiro Kosaki
    Keio University School of Medicine, Tokyo, Japan
    Fertil Steril 81:1137-9. 2004
    ..To report a case of premature ovarian failure (POF) and a mutation of the gene for Noggin (NOG)...
  32. ncbi request reprint Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy
    Goro Sasaki
    Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi Shinjuku ku, 160 8582 Tokyo, Japan
    Eur J Pediatr 163:745-6. 2004
  33. ncbi request reprint Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates
    Keiko Homma
    Department of Laboratory Medicine, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 89:6087-91. 2004
    ..The above data indicate that spot urine Ptl is a highly specific marker of 21OHD with a cutoff value of 0.1 mg/g creatinine, yielding an unambiguous separation between 21OHD and non-21OHD in term and preterm neonates...
  34. doi request reprint A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein
    Tomohiro Ishii
    Department of Pediatrics, School of Medicine, Keio University, Tokyo 160 8582, Japan
    Endocrinology 153:2714-23. 2012
    ....
  35. ncbi request reprint IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients
    Fumiko Kato
    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
    Clin Endocrinol (Oxf) 80:706-13. 2014
    ..5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients...
  36. doi request reprint Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant
    Masaki Takagi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 155:2269-73. 2011
    ..These changes differed from the narrow and short metaphyseal trabeculae found in other lethal or severe cases of OI. Our experience sheds light on the genetics and etiology of OI IIC and on its phenotypic spectrum...
  37. ncbi request reprint Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
    Michihiko Aramaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Pediatr 148:410-4. 2006
    ..Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome...
  38. ncbi request reprint Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II
    Ryuji Fukuzawa
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet 113:93-6. 2002
    ..These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II...
  39. ncbi request reprint Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring
    Keiko Homma
    Department of Laboratory Medicine, Keio University School of Medicine, Tokyo, Japan
    Endocr J 50:783-92. 2003
    ..Urinary steroids showed little circadian variation in the newborn infants, indicating that spot urine can substitute for 24-hour urine...
  40. ncbi request reprint Standardized centile curves of body mass index for Japanese children and adolescents based on the 1978-1981 national survey data
    Mikako Inokuchi
    Department of Pediatrics, Keio University Medical School, Tokyo, Japan
    Ann Hum Biol 33:444-53. 2006
    ..Thus, we utilized the 1978-1981 data collected by the Japanese Ministry of International Trade and Industry to construct reference curves of body mass index (BMI) for contemporary Japanese children and adolescents...
  41. ncbi request reprint Congenital hypothyroidism in Peters plus syndrome
    Rika Kosaki
    Department of Pediatrics, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    Ophthalmic Genet 27:67-9. 2006
    ....
  42. pmc Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report
    Ryuma Tanaka
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, 160 8582, Japan
    Exp Hematol Oncol 1:8. 2012
    ..Identification of hypoglycemia as an adverse effect will enable clinicians to understand and develop appropriate strategies for L-Asp use in chemotherapy regimens...
  43. ncbi request reprint Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1
    Eisuke Kondo
    Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080 0805, Japan
    Endocr J 60:51-5. 2013
    ..To our knowledge, this is the first Japanese patient in which the molecular basis of aldosterone synthase deficiency type 1 has been clarified. This case also indicates that spot urinary steroid analysis is useful for diagnosis...
  44. ncbi request reprint Free cortisol/cortisone ratio in pooled urine was increased after rapid-ACTH stimulation test under dexamethasone suppression
    Yuhei Koyama
    Department of Laboratory Medicine, Keio University School of Medicine, Tokyo 160 8582, Japan
    Endocr J 58:1099-103. 2011
    ..4±4.8 to 26.1±11.0 µg/day, respectively), but (2) FF/FE ratio significantly increased (0.32±0.05 to 0.77±0.23). These data suggested that newly synthesized cortisol by ACTH stimulation was not efficiently metabolized to cortisone...
  45. doi request reprint Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 152:133-40. 2010
    ..Oligonucleotide tiling microarray seems to be a powerful tool in identifying cryptic structural mutations...
  46. ncbi request reprint Growth-chart-based qualitative evaluation of height growth after hematopoietic stem cell transplantation
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Shinanomachi, Tokyo, Japan
    Pediatr Transplant 10:26-31. 2006
    ....
  47. ncbi request reprint Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development
    Rumi Hachiya
    Department of Pediatrics, Keio University School of Medicine, 160 8582 Tokyo, Japan
    J Clin Endocrinol Metab 92:4009-14. 2007
    ..NPR-B has an intracellular kinase homology domain (KHD), which has no kinase activity, and its functional significance in vivo is currently unknown...
  48. pmc Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing
    Satoshi Narumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    PLoS ONE 8:e60525. 2013
    ..In conclusion, NGS can detect somatic activating GNAS mutations quantitatively and sensitively from peripheral blood samples. At present, the PNA-NGS method is likely the most sensitive method to detect low-abundance GNAS mutation...
  49. ncbi request reprint [17 Alpha-hydroxylase deficiency]
    Rumi Hachiya
    Keio University School of Medicine, Department of Pediatrics
    Nihon Rinsho . 2006
  50. ncbi request reprint Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products
    Haruo Mizuno
    Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
    Horm Res 61:242-5. 2004
    ..To clarify the pathogenesis of transient hyper-17alpha-hydroxyprogesteronemia, we initiated a laboratory investigation in a pre-term infant with persistently high serum 17alpha-hydroxyprogesterone (17-OHP) until 2 months of age...
  51. ncbi request reprint Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature
    Taichi Kitaoka
    Department of Pediatrics, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka, 565 0871, Japan
    Eur J Pediatr 173:799-804. 2014
    ..In addition, we found normal bone mineral density in adult patients of both families who have had an episode of cortical hyperostosis regardless of the presence or absence of the common p.Arg1014Cys mutation...
  52. doi request reprint Syndrome of inappropriate anti-diuretic hormone in Kawasaki disease
    Jiro Mori
    Department of Pediatrics, Yokohama Rosai Hospital, Kanagawa, Japan
    Pediatr Int 53:354-7. 2011
    ..A recent case report of KD complicated by syndrome of inappropriate anti-diuretic hormone (SIADH) led us to determine the prevalence of SIADH in acute KD patients...
  53. ncbi request reprint A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney
    Yuki Abe
    Department of Pediatrics, Niigata City General Hospital, Niigata, Japan
    J Pediatr Endocrinol Metab 25:587-90. 2012
    ..However, analysis revealed no mutations in the responsible genes and the etiology of the renal abnormalities therefore remains unknown...
  54. ncbi request reprint Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency
    Goro Sasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Urol 169:1080-1. 2003
  55. ncbi request reprint PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 87:3529-33. 2002
    ....
  56. ncbi request reprint Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL
    Rie Sasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    Endocr J 50:303-7. 2003
    ..The results explain the development of MR in this boy in terms of contiguous gene syndrome, and suggest the importance of IL1RAPL analysis in patients with adrenal hypoplasia and MR...