Cargando…

Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption

Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Yujun, Zhi, Xu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9110439/ https://www.ncbi.nlm.nih.gov/pubmed/34231173 http://dx.doi.org/10.1007/s43032-021-00638-8

Ejemplares similares

Recent advances in understanding and managing Kallmann syndrome
por: Swee, Du Soon, et al.
Publicado: (2021)

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
por: Laitinen, Eeva-Maria, et al.
Publicado: (2011)

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis
por: Wen, Jie, et al.
Publicado: (2018)

THU201 Atypical Presentation Of Kallmann Syndrome With A Rare Genetic Mutation
por: Montgomery, Emily L, et al.
Publicado: (2023)

Kallmann syndrome: MRI findings
por: Zaghouani, Houneida, et al.
Publicado: (2013)

Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency
por: Ji, Wen, et al.
Publicado: (2017)

Ataxia and focal dystonia in Kallmann syndrome
por: Hernando‐Quintana, Natalia, et al.
Publicado: (2015)

Metabolomic alterations associated with Kallmann syndrome
por: Guo, Ye, et al.
Publicado: (2020)

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome
por: Van Vliet*, Guy, et al.
Publicado: (2015)

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

Clinical, endocrinological, and molecular genetic characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism in childhood and adolescence
por: Shin, Sun-Jeong, et al.
Publicado: (2015)

Clinical and inheritance profiles of Kallmann syndrome in Jordan
por: AbuJbara, Mousa A, et al.
Publicado: (2004)

Kallmann Syndrome: Eugenics and the Man behind the Eponym
por: Benbassat, Carlos A.
Publicado: (2016)

Reversible Kallmann Syndrome: Rare Yet Real
por: Soumya, Sudarsanababu Lalitha, et al.
Publicado: (2019)

Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches
por: Sun, Shuang-Shuang, et al.
Publicado: (2021)

PROK2/PROKR2 Signaling and Kallmann Syndrome
por: Dodé, Catherine, et al.
Publicado: (2013)

Testosterone-induced acne fulminans in twins with Kallmann's syndrome
por: Saint-Jean, Mélanie, et al.
Publicado: (2014)

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

Seminal Plasma Lipidomics Profiling to Identify Signatures of Kallmann Syndrome
por: Li, Xiaogang, et al.
Publicado: (2021)

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome
por: Shima, Hirohito, et al.
Publicado: (2021)

X-linked recessive Kallmann syndrome: A case report
por: Zhang, Ping, et al.
Publicado: (2022)

A rare disease of Kallmann syndrome: A case report
por: Hilman, Syawaluddin, et al.
Publicado: (2023)

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

Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1
por: Andrenacci, Davide, et al.
Publicado: (2006)

Invertebrate Models of Kallmann Syndrome: Molecular Pathogenesis and New Disease Genes
por: Schiavi, Elia Di, et al.
Publicado: (2013)

Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome
por: Cho, Hyun-Ju, et al.
Publicado: (2019)

Kallmann syndrome with a Tyr113His PROKR2 mutation
por: Ha, Jeong-Ha, et al.
Publicado: (2017)

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus
por: Ma, Wanlu, et al.
Publicado: (2020)

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity
por: Brauner, Raja, et al.
Publicado: (2020)

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2
por: Dodé, Catherine, et al.
Publicado: (2006)

A case of Kallmann syndrome associated with a non-functional pituitary microadenoma
por: Ach, Taieb, et al.
Publicado: (2018)

A rare case of congenital fibrosis of extra ocular muscles with Kallmann syndrome
por: Yenugandula, Raman, et al.
Publicado: (2022)

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
por: Wakabayashi, Tetsuji, et al.
Publicado: (2021)

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate
por: Xu, Hao, et al.
Publicado: (2015)

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
por: Sarfati, Julie, et al.
Publicado: (2015)

Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review
por: Salama, Nader
Publicado: (2016)

Eight rare urinary disorders in a patient with Kallmann syndrome: A case report
por: Tian, Huining, et al.
Publicado: (2020)

Le syndrome de Kallmann-de Morsier: à propos de trois cas
por: Marhari, Halima, et al.
Publicado: (2019)

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
por: Dawson, Paul A., et al.
Publicado: (2020)

AB132. The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
por: Zhang, Shilin, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_ft46qpmhr2lk29im1dtadadsp1