Cargando…

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR

Detalles Bibliográficos
Autores principales:	Saito-Hakoda, Akiko, Nishii, Aki, Uchida, Takashi, Kikuchi, Atsuo, Kanno, Junko, Fujiwara, Ikuma, Kure, Shigeo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2018
Materias:	Mutation-in-Brief
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792822/ https://www.ncbi.nlm.nih.gov/pubmed/29403157 http://dx.doi.org/10.1297/cpe.27.53

Ejemplares similares

Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation
por: Saito-Hakoda, Akiko, et al.
Publicado: (2012)

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
por: Uchida, Noboru, et al.
Publicado: (2022)

Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia
por: Kaga, Akimune, et al.
Publicado: (2013)

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020)

A Novel Deletion Mutation of the Arginine Vasopressin Receptor 2 Gene in a Japanese Infant with Nephrogenic Diabetes Insipidus
por: Daitsu, Takashi, et al.
Publicado: (2014)

A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
por: Ishizu, Katsura, et al.
Publicado: (2008)

A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val)
por: Nagahara, Keiko, et al.
Publicado: (2017)

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020)

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020)

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population
por: Li, Jin, et al.
Publicado: (2020)

A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene
por: Nagahara, Keiko, et al.
Publicado: (2019)

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3
por: Nagahara, Keiko, et al.
Publicado: (2016)

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone
por: Ito, Jumpei, et al.
Publicado: (2016)

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear
por: Miao, Kaisong, et al.
Publicado: (2019)

Mitochondrial tRNA mutations in Chinese children with tic disorders
por: Jiang, Peifang, et al.
Publicado: (2020)

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
por: Button, Emily L., et al.
Publicado: (2022)

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
por: Kapuganti, Ramani Shyam, et al.
Publicado: (2023)

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1
por: Higuchi, Shinji, et al.
Publicado: (2016)

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1
por: Itoh, Masatsune, et al.
Publicado: (2017)

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1
por: Nishizaki, Yoshimi, et al.
Publicado: (2016)

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1
por: Tsunogai, Toshiki, et al.
Publicado: (2016)

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide
por: Takeda, Ryojun, et al.
Publicado: (2015)

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
por: Itoh, Masatsune, et al.
Publicado: (2016)

Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
por: Hasegawa, Kosei, et al.
Publicado: (2015)

A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
por: Yamamoto, Sayaka, et al.
Publicado: (2013)

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
por: Yamada, Chieko, et al.
Publicado: (2022)

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
por: Nagasaki, Keisuke, et al.
Publicado: (2009)

A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene
por: Ikemoto, Satoru, et al.
Publicado: (2012)

Novel splice site mutation in GATA3 in a patient with HDR syndrome
por: Matsuo, Kumihiro, et al.
Publicado: (2017)

A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome
por: Yoshida, Rie, et al.
Publicado: (2008)

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
por: Morrone, Amelia, et al.
Publicado: (2014)

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
por: Nakamura, Akie, et al.
Publicado: (2011)

A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome
por: Huynh, Tony, et al.
Publicado: (2009)

A case of transient neonatal diabetes due to a novel mutation in ABCC8
por: Takagi, Masaki, et al.
Publicado: (2016)

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene
por: Nikasa, Parisa, et al.
Publicado: (2021)

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
por: Takagi, Masaki, et al.
Publicado: (2015)

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
por: Dhekne, Herschel S., et al.
Publicado: (2018)

A pediatric case of insulinoma and a novel MEN1 mutation: the efficacy of the combination therapy of diazoxide and cornstarch
por: Nakano, Satsuki, et al.
Publicado: (2018)

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
por: Fukuma, Mami, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_4s1gf3a2jt8al04lg0pjl2do6q