K. Goji

发表

A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.

A. Takagi, Y. Ikeda, K. Goji, 2000, Clinical science.

Trial of Insulinlike Growth Factor I Therapy for Patients With Extreme Insulin Resistance Syndromes

S. Nagataki, H. Imura, T. Kadowaki, 1993, Diabetes.

Brief report: short stature caused by a mutant growth hormone.

H. Kaji, Y. Okimura, Y. Takahashi, 1996, The New England journal of medicine.

Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction and laser-capture microdissection

M. Matsuo, Makiko Yoshida, K. Goji, 2009, Endocrine.

Clarification of Signaling Pathways Mediated by Insulin and Insulin-Like Growth Factor I Receptors in Fibroblasts From Patients With Specific Defect in Insulin Receptor

T. Sasaoka, M. Kobayashi, Y. Takata, 1988, Diabetes.

Fluctuation of insulin resistance in a leprechaun with a primary defect in insulin binding.

T. Sasaoka, M. Kobayashi, Y. Takata, 1988, The Journal of clinical endocrinology and metabolism.

Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.

H. Nishio, A. Sadewa, M. Matsuo, 2006, The Journal of clinical endocrinology and metabolism.

A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.

M. Matsuo, K. Parker, Nathan C Bingham, 2007, European journal of endocrinology.

[A case of leprechaunism with extreme insulin resistance due to a primary defect in insulin receptors].

M. Kobayashi, Y. Takata, K. Goji, 1985, Nihon Naibunpi Gakkai zasshi.

Short Stature Caused by a Natural Growth Hormone Antagonist

K. Chihara, Yutaka Takahashi, H. Kaji, 1998, Hormone Research in Paediatrics.

The effect of a high fat diet on pyruvate decarboxylase deficiency without central nervous system involvement

Toshikazu Takahashi, K. Goji, S. Kodama, 1983, Brain and Development.

Elevated Adrenocorticotropic Hormone-Stimulated 17-Hydroxypregnenolone/17-Hydroxyprogesterone in Japanese Children with Premature Pubarche, Hirsutism, Acne and/or Accelerated Growth

T. Tezuka, K. Fujieda, Toshiaki Tanaka, 1996 .

Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

F. Marumo, M. Matsuo, S. Sasaki, 1998, The Journal of clinical endocrinology and metabolism.

Comparison between Spontaneous Gonadotropin Concentration Profiles and Gonadotropin Response to Low-Dose Gonadotropin-Releasing Hormone in Prepubertal and Early Pubertal Boys and Patients with Hypogonadotropic Hypogonadism: Assessment by Using Ultrasensitive, Time-Resolved Immunofluorometric Assay

K. Goji, S. Tanikaze, 1992, Pediatric Research.

Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome?

H. Nishio, M. Matsuo, K. Nozu, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Twenty-four-hour concentration profiles of gonadotropin and estradiol (E2) in prepubertal and early pubertal girls: the diurnal rise of E2 is opposite the nocturnal rise of gonadotropin.

K. Goji, 1993, The Journal of clinical endocrinology and metabolism.

Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization

H. Nishio, M. Matsuo, R. Pokharel, 1998, Human mutation.

The corticotropin-releasing hormone test in normal short children: comparison of plasma adrenocorticotropin and cortisol responses to human corticotropin-releasing hormone and insulin-induced hypoglycemia.

K. Goji, 1989, Acta endocrinologica.

Short Stature an Antagonist Caused by a ic Effect Mutant Growth Hormone with

K. Chihara, Yutaka Takahashi, H. Kaji, 2006 .

Short stature caused by a mutant growth hormone with an antagonistic effect.

H. Kaji, Y. Okimura, Y. Takahashi, 1996, Endocrine journal.

Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency

K. Goji, S. Kodama, T. Takahashi, 2004, European Journal of Pediatrics.

Sigma ligands indirectly modulate the NMDA receptor-ion channel complex on intact neuronal cells via sigma 1 site

T. Yamamoto, H. Yamamoto, T. Moroji, 1995, Journal of Neuroscience.

Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2006, Human Genetics.

Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance.

T. Imamura, K. Egawa, T. Haruta, 1995, Metabolism: clinical and experimental.

Pulsatile characteristics of spontaneous growth hormone (GH) concentration profiles in boys evaluated by an ultrasensitive immunoradiometric assay: evidence for ultradian periodicity of GH secretion.

K. Goji, 1993, The Journal of clinical endocrinology and metabolism.

Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.

J. Nakae, T. Tajima, K. Fujieda, 1997, The Journal of clinical endocrinology and metabolism.