Detalhe da pesquisa
1.
A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care.
Endocr J
; 70(5): 519-528, 2023 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792176
2.
Perinatal and neonatal characteristics of Prader-Willi syndrome in Japan.
Pediatr Int
; 65(1): e15540, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36975754
3.
Effects of growth hormone treatment on thyroid function in pediatric patients with Prader-Willi syndrome.
Am J Med Genet A
; 182(4): 659-663, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011826
4.
Delayed peak response of cortisol to insulin tolerance test in patients with Prader-Willi syndrome.
Am J Med Genet A
; 176(6): 1369-1374, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696788
5.
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²âº channels.
Hum Mol Genet
; 24(3): 637-48, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227914
6.
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Rheumatology (Oxford)
; 56(2): 287-293, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27818386
7.
[A case of X-linked myotubular myopathy with chylothorax].
No To Hattatsu
; 48(1): 34-6, 2016 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-27012108
8.
Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.
Pediatr Int
; 57(5): 880-3, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26114601
9.
Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.
Pediatr Int
; 57(4): 798-801, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26315205
10.
The characteristics of scoliosis in Prader-Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS.
J Orthop Sci
; 20(1): 17-22, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253244
11.
Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: a comparison between maternal uniparental disomy and deletion cases.
Am J Med Genet A
; 164A(9): 2180-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24850752
12.
QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.
Am J Med Genet A
; 164A(9): 2226-31, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24953026
13.
Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader-Willi syndrome.
Am J Med Genet A
; 164A(3): 671-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443368
14.
Epilepsy and West syndrome in neonates with hypoxic-ischemic encephalopathy.
Pediatr Int
; 56(3): 369-72, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24274080
15.
Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome.
J Orthop Sci
; 19(6): 877-82, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25257562
16.
A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.
J Pediatr Endocrinol Metab
; 37(3): 276-279, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38310522
17.
Evaluating the frequency and characteristics of seizures in 142 Japanese patients with Prader-Willi syndrome.
Am J Med Genet A
; 161A(8): 2052-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824702
18.
Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study.
Am J Med Genet A
; 161A(9): 2167-73, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897656
19.
Characterization of fat distribution in Prader-Willi syndrome: relationships with adipocytokines and influence of growth hormone treatment.
Am J Med Genet A
; 161A(1): 27-33, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239671
20.
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
Am J Med Genet A
; 161A(9): 2339-46, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913798