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Page 1
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R. Dwyer AA, et al. J Clin Endocrinol Metab. 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. J Clin Endocrinol Metab. 2023. PMID: 36268624 Free PMC article.

Men with absent puberty and apulsatile LH were enriched for oligogenic PTVs (P < .001), with variants in ANOS1 being the predominant PTV in this genotype-phenotype association. Men with absent puberty were enriched for ANOS1 PTVs compared to partial puberty count

Men with absent puberty and apulsatile LH were enriched for oligogenic PTVs (P < .001), with variants in ANOS1 being the predomina

Anosmin 1 N-terminal domains modulate prokineticin receptor 2 activation by prokineticin 2.
Murcia-Belmonte V, Tercero-Díaz M, Barrasa-Martín D, López de la Vieja S, Muñoz-López M, Esteban PF. Murcia-Belmonte V, et al. Cell Signal. 2022 Oct;98:110417. doi: 10.1016/j.cellsig.2022.110417. Epub 2022 Jul 22. Cell Signal. 2022. PMID: 35878754
We have previously shown interaction between PKR2 and anosmin 1 in vitro. In the current report we present evidence of the modulation of PK2/PKR2 activity by anosmin 1, since this protein is able to enhance the activation of the ERK1/2 (extracellular s …
We have previously shown interaction between PKR2 and anosmin 1 in vitro. In the current report we present evidence of the mod …
Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
Louden ED, Poch A, Kim HG, Ben-Mahmoud A, Kim SH, Layman LC. Louden ED, et al. Mol Cell Endocrinol. 2021 Aug 20;534:111334. doi: 10.1016/j.mce.2021.111334. Epub 2021 May 30. Mol Cell Endocrinol. 2021. PMID: 34062169 Review.
Investigation of the genetic basis of nHH/KS over the past 35 years has yielded a substantial increase in our understanding, as variants in 44 genes in OMIM account for ~50% of cases. The first genes for KS (ANOS1) and nHH (GNRHR) were followed by the discovery that FGFR1 …
Investigation of the genetic basis of nHH/KS over the past 35 years has yielded a substantial increase in our understanding, as variants in …
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
Zouaghi Y, Choudhary AM, Irshad S, Adamo M, Rehman KU, Fatima A, Shahid M, Najmi N, De Azevedo Correa F, Habibi I, Boizot A, Niederländer NJ, Ansar M, Santoni F, Acierno J, Pitteloud N. Zouaghi Y, et al. BMC Genomics. 2024 Aug 14;25(1):787. doi: 10.1186/s12864-024-10598-3. BMC Genomics. 2024. PMID: 39143522 Free PMC article.
Subsequent investigation of CNVs in the remaining two families identified novel unique large deletions in ANOS1. CONCLUSION: A combined, systematic analysis of single nucleotide and CNVs helps to improve the diagnostic yield for variants in patients with CHH....
Subsequent investigation of CNVs in the remaining two families identified novel unique large deletions in ANOS1. CONCLUSION: A combin …
Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
Chu G, Li P, Zhao Q, He R, Zhao Y. Chu G, et al. Reprod Biol Endocrinol. 2023 Mar 1;21(1):23. doi: 10.1186/s12958-023-01074-w. Reprod Biol Endocrinol. 2023. PMID: 36859276 Free PMC article.
BACKGROUND: Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 have been identified in different genetic models of KS without affirmatory genotype-phenotype correlation, and novel mutat …
BACKGROUND: Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including AN
Kallmann syndrome: Diagnostics and management.
Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S. Kumar Yadav R, et al. Clin Chim Acta. 2025 Jan 15;565:119994. doi: 10.1016/j.cca.2024.119994. Epub 2024 Oct 9. Clin Chim Acta. 2025. PMID: 39384129 Review.
Kallmann Syndrome can be inherited in several manners including X-linked recessive (e.g., mutations within KAL1) and autosomal dominant and recessive forms. Germline mutation in KAL1 gene was identified among 8% of patients with Kallmann Syndrome. ...This review aim …
Kallmann Syndrome can be inherited in several manners including X-linked recessive (e.g., mutations within KAL1) and autosomal domina …
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T. Patil VA, et al. Clin Endocrinol (Oxf). 2022 Dec;97(6):804-813. doi: 10.1111/cen.14822. Epub 2022 Sep 30. Clin Endocrinol (Oxf). 2022. PMID: 36138264
It ranged from 16.6% to 72.2% at different centers. The affected genes were FGFR1 (9.8%), ANOS1 (7.5%), PROKR2 (6.1%), CHD7 (5.4%), oligogenic (2.1%), and others &lt;1% each (FGF8, SOX10, PROK2, SEMA3A, IL17RD, and GNRHR). FGFR1 and ANOS1 were the commonly affec …
It ranged from 16.6% to 72.2% at different centers. The affected genes were FGFR1 (9.8%), ANOS1 (7.5%), PROKR2 (6.1%), CHD7 (5.4%), o …
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
Gregory LC, Cionna C, Cerbone M, Dattani MT. Gregory LC, et al. Genet Med. 2023 Sep;25(9):100881. doi: 10.1016/j.gim.2023.100881. Epub 2023 May 8. Genet Med. 2023. PMID: 37165954 Free article.
RESULTS: We identified variants in 178 patients: GH1/GHRHR (51 patients of 414 screened), PROP1 (17 of 253), POU1F1 (15 of 139), SOX2 (13 of 59), GLI2 (7 of 106), LHX3/LHX4 (8 of 110), HESX1 (8 of 724), SOX3 (9 of 354), OTX2 (5 of 59), SHH (2 of 64), and TCF7L1, KAL1, FGFR …
RESULTS: We identified variants in 178 patients: GH1/GHRHR (51 patients of 414 screened), PROP1 (17 of 253), POU1F1 (15 of 139), SOX2 (13 of …
37 results