Search Results - "Acierno JS Jr"

Genetics of Idiopathic Hypogonadotropic Hypogonadism.

Authors: Topaloğlu, A. Kemal Kotan, Leman Damla

Source: Journal of Clinical Research in Pediatric Endocrinology. Jun2026, Vol. 18 Issue 2, p1-21. 21p.

A Novel Variant in NR5A1 Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature.

Authors: Shah, Sapan Goswami, Soumik Sengupta, Nilanjan et al.

Source: JCEM Case Reports. Nov2025, Vol. 3 Issue 11, p1-5. 5p.

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Authors: Zouaghi, Yassine Choudhary, Anbreen Mazhar Irshad, Saba et al.

Source: BMC Genomics. 8/14/2024, Vol. 25 Issue 1, p1-9. 9p.

Hypothalamic control of puberty: from neuronal circuits to mechanisms for its metabolic regulation.

Authors: Jimenez-Puyer M Sobrino V Colledge WH et al.

Source: Reviews in endocrine & metabolic disorders [Rev Endocr Metab Disord] 2026 Jun; Vol. 27 (3), pp. 573-593. Date of Electronic Publication: 2025 Oct 18.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 100940588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2606 (Electronic) Linking ISSN: 13899155 NLM ISO Abbreviation: Rev Endocr Metab Disord Subsets: MEDLINE

Pharmacological analysis of the role of kisspeptin-10 in reinforcing mechanisms.

Authors: Pyurveev, Sarng S. Lebedev, Andrei A. Bychkov, Eugeny R. et al.

Source: Research Results in Pharmacology. 2025, Vol. 11 Issue 1, p58-68. 11p.

Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor.

Authors: Canbek, Sezin Şenol, Mehmet Guney

Source: Journal of Neurosciences in Rural Practice. Oct-Dec2024, Vol. 15 Issue 4, p1-6. 6p.

Genome-wide identification of Gα family in grass carp (Ctenopharyngodon idella) and reproductive regulation functional characteristics of Cignaq.

Authors: Wang, Chong Xiong, Shuting Hu, Shitao et al.

Source: BMC Genomics. 8/24/2024, Vol. 25 Issue 1, p1-15. 15p.

Dynamic modulation of LH secretion by continuous kisspeptin infusion in healthy men.

Authors: Naveed A Lippincott MF Stamou M et al.

Source: Hormones (Athens, Greece) [Hormones (Athens)] 2026 Jun 02. Date of Electronic Publication: 2026 Jun 02.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

Sodium benzoate exposure from juvenile to peripubertal period disrupts HPG-axis in both male and female rats.

Authors: Khan, Safdar Attaullah, Mohammad Jahan, Sarwat et al.

Source: Toxicological Research. Jul2025, Vol. 41 Issue 4, p351-368. 18p.

Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.

Authors: Huang, Huasheng Jiang, Hongliang Yang, Mingxiu et al.

Source: International Journal of Neuroscience. 2024, Vol. 134 Issue 2, p184-192. 9p.

Subjects: Basal ganglia diseases, Magnetic resonance imaging, Pupillary reflex, Whole genome sequencing, Cerebral atrophy, Subdural hematoma, Agenesis of corpus callosum

The current status and future of andrology: A consensus report from the Cairo workshop group.

Source: Andrology. Jan2020, Vol. 8 Issue 1, p27-52. 26p.

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.

Authors: Chu, Guoming Li, Pingping Zhao, Qian et al.

Source: Reproductive Biology & Endocrinology. 3/1/2023, Vol. 21 Issue 1, p1-10. 10p.

GNRHR-related central hypogonadism with spontaneous recovery – case report.

Authors: Šmigoc Schweiger, Darja Davidović Povše, Maja Trebušak Podkrajšek, Katarina et al.

Source: Italian Journal of Pediatrics. 11/12/2022, Vol. 48 Issue 1, p1-5. 5p.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Authors: Kehrer-Sawatzki H Cooper DN

Source: Familial cancer [Fam Cancer] 2025 Aug 12; Vol. 24 (3), pp. 64. Date of Electronic Publication: 2025 Aug 12.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Asynchronous embryonic germ cell development leads to a heterogeneity of postnatal ovarian follicle activation and may influence the timing of puberty onset in mice.

Authors: Dai, Yanli Bo, Yingnan Wang, Peike et al.

Source: BMC Biology. 5/13/2022, Vol. 20 Issue 1, p1-15. 15p.

Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL).

Authors: Zakeri, Mana Safaiee, Mohammad Sadegh Taheri, Forough et al.

Source: Egyptian Journal of Medical Human Genetics. 11/2/2021, Vol. 22 Issue 1, p1-5. 5p.

In vitro differentiation of the hypothalamic KNDy neuron, a master regulator for reproduction, from mouse embryonic stem cells.

Authors: Miyake N Suga H Osuka S et al.

Source: Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2026 Feb 25; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 25.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101153627 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-7827 (Electronic) Linking ISSN: 14777827 NLM ISO Abbreviation: Reprod Biol Endocrinol Subsets: MEDLINE

Novel and recurrent genetic variants associated with male and female infertility.

Authors: Jankowska KK Kutkowska-Kazmierczak A Ślusarczyk K et al.

Source: Journal of applied genetics [J Appl Genet] 2025 Dec; Vol. 66 (4), pp. 993-1003. Date of Electronic Publication: 2025 Jan 15.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: MEDLINE

Widespread transcriptomic alterations of transient receptor potential channel genes in cancer.

Authors: Pan, Tao Gao, Yueying Xu, Gang et al.

Source: Briefings in Functional Genomics. May2024, Vol. 23 Issue 3, p214-227. 14p.

Serum growth differentiation factor 15 levels and clinical manifestations in patients with thiamine deficiency.

Authors: Miyaue, Noriyuki Yabe, Hayato Nagai, Masahiro

Source: Neurology & Clinical Neuroscience. Sep2020, Vol. 8 Issue 5, p245-250. 6p.