about
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaDigynic triploid infant surviving for 46 days.The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function.Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis.Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link.Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarismQuantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision).Complex role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by bacterial artificial chromosome transgenesis in vivo.A novel mutation of androgen receptor gene in complete androgen insensitivity syndromeGrowth failure in an infant with congenital nephrogenic diabetes insipidus during sodium restrictionA case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay.Genetic defects in pediatric-onset adrenal insufficiency in Japan.Adult phenylketonuria presenting with subacute severe neurologic symptoms.A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years.Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case reportMicropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias.Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.Micropenis and the AR Gene: mutation and CAG repeat-length analysis.Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.The roles of circulating high-density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein.The steroidogenic acute regulatory protein is expressed in steroidogenic cells of the day-old brain.Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy.Treatment with a gonadotropin-releasing-hormone analog and attainment of full height potential in a male monozygotic twin with gonadotropin-releasing hormone-dependent precocious puberty.Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein.Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.
P50
Q24324926-853596E6-9E64-4DC1-9EDF-A75C8491FC16Q33788882-3737F1B2-1319-4A6A-B667-82045188D1BFQ33821573-D66A44B9-1C72-40A5-A4B1-F5686FE9483BQ33945037-F15D6BEE-E5FF-42CD-966C-718F48E3393AQ33979167-5DC0FEFA-3E49-4F8D-8C76-2EB708D0BBFAQ34006849-71934AEB-0AF3-45D7-9D32-DFB6EDC32DD0Q34309235-C97B5E66-4FA3-4FA6-8CDE-9FBA50037DDEQ34430600-3F9D7506-7D0C-4F25-94A5-894895577229Q34639987-C3BB63D5-253C-42BC-B5E9-936C533859BCQ36018583-085F3F35-2454-40AD-BDAF-51953904BBE9Q36171593-5FF83FB0-C778-4BAB-A546-7F649E4186D4Q36265163-A05B5041-193D-4F94-9E46-6505B6017B51Q36265168-0A16F8FC-2D3C-476F-B3A5-721689178A02Q36512421-3292BF55-B603-4108-BCD0-239104389408Q37732756-B8C2BC7E-13BF-4853-8C2A-C49606B9031BQ39067421-6C1633F1-DB21-4F1B-9D23-2BCD49218B9AQ39922825-8269780C-09DC-4BA0-A75E-CBD2439881C8Q40184691-8678C63B-9CEE-47AE-959F-654582B713A8Q41012268-D6E09830-B365-44CA-8ABB-60947F00B06DQ41731398-B6DD5E28-9871-49C0-86DB-3936464E3487Q41960423-4BC63AA4-87FB-462C-AFBD-BAEF0F47FB20Q42169923-9E53EBCD-2802-4415-B136-B194A73682C2Q42281635-A143185B-AAB1-41A6-BE4A-364C7802703FQ43115665-9967EF81-7054-457C-9F4B-26B4056EA84BQ43650580-742EF7FD-7769-401D-B4F3-BCD877B6DEF3Q43794567-EA613948-E7AF-43C1-BB6E-C2D09A39AF6DQ44105296-FD286F5D-9508-4171-B7EA-DF8809B1A737Q44156117-6B051EC9-4905-4EF2-BE2F-233B42325A46Q44942753-9675E335-8B2F-4970-8C10-C95B4093F8AEQ45103964-5A2FB4B9-4254-4BC6-9A82-86439DC53BD0Q47251594-FC34E705-CA65-4CFE-908A-3B5A79156212Q47581036-AEC6DCEA-0A7E-46E7-B776-B98C17198C7DQ48590364-AF08AFED-5077-48DA-9CCF-751E6F5C9226Q49893296-73DE0723-2D6B-4735-86E5-6D93EF2D8A9DQ50487421-9C83AC8D-ADDF-4A72-929A-DBE3BB32B22CQ50498521-5269DFF1-2561-4E59-9B63-052F471FBA8BQ50527588-81C2B7DE-38C6-4DC2-9C74-5ADFF5A61CCBQ50597802-8B40F3E0-5AA9-4B1D-B53D-C1A8AF901FEAQ50670904-D13AAFE5-2493-4071-9DF4-D5FAFD861233Q52741445-378127C1-53FB-40E0-8AC3-1F516D22B889
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Tomohiro Ishii
@ast
Tomohiro Ishii
@en
Tomohiro Ishii
@es
Tomohiro Ishii
@sl
type
label
Tomohiro Ishii
@ast
Tomohiro Ishii
@en
Tomohiro Ishii
@es
Tomohiro Ishii
@sl
prefLabel
Tomohiro Ishii
@ast
Tomohiro Ishii
@en
Tomohiro Ishii
@es
Tomohiro Ishii
@sl
P106
P1153
7404052158
P21
P31
P496
0000-0001-7360-2465
P569
2000-01-01T00:00:00Z