Cargando…

HIST1H1E syndrome with deficiency in multiple pituitary hormones

Detalles Bibliográficos
Autores principales:	Tanabe, Yuko, Nomura, Naohiro, Minami, Miki, Takaya, Junji, Okamoto, Nobuhiko, Yanagi, Kumiko, Kaname, Tadashi, Fujii, Yoshimitsu, Kaneko, Kazunari
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2023
Materias:	Mutation-in-Brief
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288291/ https://www.ncbi.nlm.nih.gov/pubmed/37362168 http://dx.doi.org/10.1297/cpe.2023-0002

Ejemplares similares

Growth Hormone Therapy for Small for Gestational Age Short Stature Develops Type 2 Diabetes
por: Nomura, Naohiro, et al.
Publicado: (2023)

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

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, 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)

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)

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)

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 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)

A Novel V2 Vasopressin Receptor Mutation with X-Linked Nephrogenic Diabetes Insipidus
por: Okamoto, Takayuki, et al.
Publicado: (2006)

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

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

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2
por: Goda, Takeshi, et al.
Publicado: (2020)

A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer
por: Wang, Kai Jie, et al.
Publicado: (2011)

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

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism
por: Tajima, Toshihiro, 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)

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
por: Lemos, Manuel C, et al.
Publicado: (2015)

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
por: Yamamoto-Shimojima, Keiko, et al.
Publicado: (2021)

CNGB1‐related rod‐cone dystrophy: A mutation review and update
por: Nassisi, Marco, et al.
Publicado: (2021)

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

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

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
por: Horn, Denise, et al.
Publicado: (2010)

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
por: Abdelkreem, Elsayed, et al.
Publicado: (2019)

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

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

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
por: Gardner, Emily, et al.
Publicado: (2019)

A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
por: Molatore, Sara, et al.
Publicado: (2010)

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)
por: Jo, Wakako, et al.
Publicado: (2012)

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)

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
por: Gilbert, Melissa A., et al.
Publicado: (2019)

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family
por: Hilhorst-Hofstee, Yvonne, et al.
Publicado: (2010)

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
por: Coppieters, Frauke, et al.
Publicado: (2010)

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)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression
por: Thiele, Holger, et al.
Publicado: (2010)

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
por: Pathak, Sagar J., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_mf3bvv399bapbf54tg68uba5gp