Results 141 to 150 of about 2,952 (186)

Kallmann syndrome and idiopathic hypogonadotropic hypogonadism: The role of semaphorin signaling on GnRH neurons. [PDF]

Handb Clin Neurol, 2021
Cariboni A, Balasubramanian R.
europepmc   +1 more source

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome. [PDF]

Genes (Basel), 2021
Kałużna M, Budny B, Rabijewski M, Kałużny J, Dubiel A, Trofimiuk-Müldner M, Wrotkowska E, Hubalewska-Dydejczyk A, Ruchała M, Ziemnicka K.   +9 more
europepmc   +1 more source

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants. [PDF]

Front Endocrinol (Lausanne)
Zhang J, Yang S, Zhang Y, Liu F, Hao L, Han L.   +5 more
europepmc   +1 more source

Metabolomic alterations associated with Kallmann syndrome. [PDF]

Ann Transl Med, 2020
Guo Y, Li X, Yan S, Li Y.
europepmc   +1 more source

Eight rare urinary disorders in a patient with Kallmann syndrome: A case report. [PDF]

Medicine (Baltimore), 2020
Tian H, Yan Z, Lv Y, Sun L, Gang X, Wang G.   +5 more
europepmc   +1 more source

Extra chromosome in Kallmann's syndrome. [PDF]

Journal of Medical Genetics, 1977
openaire   +3 more sources

Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation. [PDF]

BMJ Case Rep
Ichioka K, Yoshikawa T, Kimura H, Saito R.   +3 more
europepmc   +1 more source

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome. [PDF]

Hum Genome Var, 2020
Hamada J, Ochi F, Sei Y, Takemoto K, Hirai H, Honda M, Shibata H, Hasegawa T, Eguchi M.   +8 more
europepmc   +1 more source

Genetic Variability of <i>SOX10</i>-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

Ludovico Graziani, Miriam Lucia Carriero, Flavio Pozzi, Chiara Minotti, Aikaterini Andreadi, Alfonso Bellia, Rosario Ruta, Mario Bengala, Antonio Novelli, Davide Lauro, Giuseppe Novelli   +10 more
openalex   +1 more source