Results 91 to 100 of about 2,952 (186)

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

Molecular Genetics and Metabolism Reports, 2020
We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann
Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler   +4 more
doaj  

Reversible Kallmann Syndrome, Delayed Puberty, and Isolated Anosmia Occurring in a Single Family with a Mutation in the Fibroblast Growth Factor Receptor 1 Gene [PDF]

, 2005
Nelly Pitteloud, James S. Acierno, Astrid U. Meysing, Andrew Dwyer, Frances J. Hayes, William F. Crowley   +5 more
openalex   +1 more source

Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families:Case report [PDF]

, 2005
Naoko Sato, Tomonobu Hasegawa, Naoaki Hori, Maki Fukami, Yasunori Yoshimura, Tsutomu Ogata   +5 more
openalex   +1 more source

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease

Life
Prokineticins (PKs) are low molecular weight proteins that exert their effects by binding to two seven-transmembrane G-protein-coupled receptors (prokineticin receptors, PKRs).
Roberta Lattanzi, Rossella Miele
doaj   +1 more source

Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome [PDF]

, 2007
Neoklis A. Georgopoulos, Vasiliki Koika, Assimina Galli‐Τsinopoulou, Bessie E. Spiliotis, George Adonakis, Maria Keramida, Argyro Sgourou, Kleanthis D. Koufogiannis, Adamantia Papachatzopoulou, Athanasios G. Papavassiliou, George Kourounis, George A. Vagenakis   +11 more
openalex   +1 more source

Hypogonadotropic Hypogonadism Revisited

Clinics, 2013
Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic).
Renato Fraietta, Daniel Suslik Zylberstejn, Sandro C. Esteves   +2 more
doaj  

Clinical features and ovulation induction in women with idiopathic hypogonadotropic hypogonadism or kallmann syndrome [PDF]

, 2007
X. Chen, Jie Qiao, H. Li, L. Wang, Y. Wang, Yanhong Fan   +5 more
openalex   +1 more source

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome [PDF]

, 2008
Chrystel Leroy, Corinne Fouveaut, Sandrine Leclercq, Sébastien Jacquemont, Hélène Du Boullay, James Lespinasse, Marc Delpech, Jean‐Michel Dupont, Jean‐Pierre Hardelin, Catherine Dodé   +9 more
openalex   +1 more source

Kallmann's Syndrome [PDF]

Journal of the Royal Society of Medicine, 1988
openaire   +3 more sources

Delayed Puberty, Eroticism, and Sense of Smell, a Psychological Study of Economic and Social Consequences (Kallmann’s Syndrome): A Rare Case Report

Biomolecular and Health Science Journal
Kallmann syndrome is defined as the association of hypogonadotropic hypogonadism and anosmia or hyposmia caused by abnormal migration of olfactory axons and neurons producing gonadotropin-releasing hormone.
Azlansyah Azlansyah, Cennikon Pakpahan, Hermansyah Hermansyah, Faisal Yusuf Ashari, Gustavo Santos Rainato, Kenley Nathanael, Maxwell Salvador Surya Atmaja   +6 more
doaj   +1 more source