Cargando…

Clinical, endocrinological, and molecular genetic characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism in childhood and adolescence

Detalles Bibliográficos
Autores principales:	Shin, Sun-Jeong, Kim, Ja Hye, Cho, Ja Hyang, Kim, Jae Hyun, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428893/ http://dx.doi.org/10.1186/1687-9856-2015-S1-P114

Ejemplares similares

Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience
por: Shin, Sun-Jeong, et al.
Publicado: (2015)

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism
por: Hye Kim, Ja, et al.
Publicado: (2023)

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
por: Gürbüz, Fatih, et al.
Publicado: (2012)

Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
por: Choe, Jaewon, et al.
Publicado: (2020)

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
por: Pedersen-White, Jennifer R., et al.
Publicado: (2008)

Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future
por: Kim, Soo-Hyun
Publicado: (2015)

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings
por: Sagi, Satyanarayana V, et al.
Publicado: (2020)

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism
por: Gonçalves, Catarina I, et al.
Publicado: (2017)

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome
por: Senthilraja, Manickavasagam, et al.
Publicado: (2019)

SUN-032 Digenic Inheritance of PCSK1 and CHD7 Mutations in PAX4 Homozygous Diabetic Male with Normosmic Hypogonadotropic Hypogonadism
por: Cho, Yun Kyung, et al.
Publicado: (2020)

Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism
por: Ying, Hui, et al.
Publicado: (2020)

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations
por: Francou, Bruno, et al.
Publicado: (2011)

Corrigendum to “Seminal plasma metabolomics signatures of normosmic congenital hypogonadotropic hypogonadism” [Heliyon 9(4) (March 2023) e14779]()
por: Li, Xiaogang, et al.
Publicado: (2023)

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism
por: Topaloğlu, A. Kemal
Publicado: (2017)

Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation
por: Chelaghma, N, et al.
Publicado: (2018)

A Network Investigation on Idiopathic Hypogonadotropic Hypogonadism in China
por: Zhao, Weiwei, et al.
Publicado: (2013)

Contribution of Copy Number Variation in Idiopathic Hypogonadotropic Hypogonadism
por: Stamou*, Maria, et al.
Publicado: (2021)

Hypogonadotropic Hypogonadism Revisited
por: Fraietta, Renato, et al.
Publicado: (2013)

Genetics of hypogonadotropic hypogonadism
por: Millar, Adam C., et al.
Publicado: (2021)

Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation
por: Brioude, Frédéric, et al.
Publicado: (2013)

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1
por: Kotan, Leman Damla, et al.
Publicado: (2016)

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism
por: Çiftci, Nurdan, et al.
Publicado: (2023)

Molecular defects of the GNRH receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism
por: Fathi, Aws K, et al.
Publicado: (2013)

The Genetic Backdrop of Hypogonadotropic Hypogonadism
por: Szeliga, Anna, et al.
Publicado: (2021)

Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients
por: Mao, Jiang-Feng, et al.
Publicado: (2015)

An idiopathic hypogonadotropic hypogonadism patient with metabolic disorder and diabetes: case report
por: Zhang, Man-Na, et al.
Publicado: (2015)

Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism
por: Tang, Rui-yi, et al.
Publicado: (2017)

Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism
por: Lippincott, Margaret F, et al.
Publicado: (2018)

Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism
por: Wang, Yuanfan, et al.
Publicado: (2023)

Moebius-Poland syndrome and hypogonadotropic hypogonadism
por: López de Lara, Diego, et al.
Publicado: (2007)

Unexpected difficult airway with hypogonadotropic hypogonadism
por: Yaman, Ferda, et al.
Publicado: (2014)

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism
por: Dwyer, Andrew A., et al.
Publicado: (2019)

Metabolic Disorders and Male Hypogonadotropic Hypogonadism
por: Pivonello, Rosario, et al.
Publicado: (2019)

Hypogonadotropic hypogonadism in men with hereditary hemochromatosis
por: El Osta, Rabih, et al.
Publicado: (2017)

Induction of spermatogenesis in men with hypogonadotropic hypogonadism
por: Morris, Guy C., et al.
Publicado: (2021)

Association of Beta-Thalassaemia and Hypogonadotropic Hypogonadism
por: Vidal, Angela, et al.
Publicado: (2022)

Congenital hypogonadotropic hypogonadism complicated by neuroblastoma
por: Ueta, Yukiko, et al.
Publicado: (2022)

Osteocalcin Levels in Male Idiopathic Hypogonadotropic Hypogonadism: Relationship With the Testosterone Secretion and Metabolic Profiles
por: Yang, Yu-Ying, et al.
Publicado: (2019)

Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism
por: Kulshreshtha, Bindu, et al.
Publicado: (2013)

Hypogonadotropic Hypogonadism and Juvenile Idiopathic Arthritis in an African Boy: What is the Pathophysiological Link?
por: Diack, Ngoné Diaba, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_6i190qvj579brj5gsehvp26ud8