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Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Wang H, Kong X, Pei Y, Cui X, Zhu Y, He Z, Wang Y, Zhang L, Zhuo L, Chen C, Yan X. Wang H, et al. Mol Med Rep. 2020 Jul;22(1):297-309. doi: 10.3892/mmr.2020.11078. Epub 2020 Apr 16. Mol Med Rep. 2020. PMID: 32319661 Free PMC article.
A total of 47 rare non-polymorphic variants in 9 target genes associated with thyroid hormone synthesis (DUOX2, DUOXA2, TPO, TG, SLC26A4 and SLC5A5), thyroid stimulating hormone resistance (TSHR) and central hypothyroidism (PROP1 and TRHR) were identified in 31 patients (3 …
A total of 47 rare non-polymorphic variants in 9 target genes associated with thyroid hormone synthesis (DUOX2, DUOXA2, TPO, TG, SLC26A4 and …
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 …
The molecular basis of hypoprolactinaemia.
Finn BP, Dattani MT. Finn BP, et al. Rev Endocr Metab Disord. 2024 Dec;25(6):967-983. doi: 10.1007/s11154-024-09906-9. Epub 2024 Oct 17. Rev Endocr Metab Disord. 2024. PMID: 39417960 Review.
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B, Edouard T, Raverot G, Barlier A, Brue T, Castinetti F, Saveanu A. Fourneaux R, et al. Eur J Endocrinol. 2022 Nov 3;187(6):787-795. doi: 10.1530/EJE-22-0520. Print 2022 Dec 1. Eur J Endocrinol. 2022. PMID: 36201163
A genetic cause was identified in 26.5% of patients, with 36.3% in the ITSHD group (variants in TSHbeta and IGSF1) and 21.4% in TSHD-GHD (variants in IGSF1, TSHbeta, TRHR, GH1, POU1F1, and PROP1). Among the pathogenic and likely pathogenic variants identified, 42% were in …
A genetic cause was identified in 26.5% of patients, with 36.3% in the ITSHD group (variants in TSHbeta and IGSF1) and 21.4% in TSHD-GHD (va …
Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats.
Course MM, Sulovari A, Gudsnuk K, Eichler EE, Valdmanis PN. Course MM, et al. Genome Res. 2021 Aug;31(8):1313-1324. doi: 10.1101/gr.275560.121. Epub 2021 Jul 9. Genome Res. 2021. PMID: 34244228 Free PMC article.
Although overall VNTR compositions tend to remain similar between 1000 Genomes Project superpopulations, we describe a notable exception with substantial differences in repeat composition (in PCBP3), as well as several VNTRs that are significantly different in length between supe …
Although overall VNTR compositions tend to remain similar between 1000 Genomes Project superpopulations, we describe a notable exception wit …
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.
Kaja E, Lejman A, Sielski D, Sypniewski M, Gambin T, Dawidziuk M, Suchocki T, Golik P, Wojtaszewska M, Mroczek M, Stępień M, Szyda J, Lisiak-Teodorczyk K, Wolbach F, Kołodziejska D, Ferdyn K, Dąbrowski M, Woźna A, Żytkiewicz M, Bodora-Troińska A, Elikowski W, Król ZJ, Zaczyński A, Pawlak A, Gil R, Wierzba W, Dobosz P, Zawadzka K, Zawadzki P, Sztromwasser P. Kaja E, et al. Int J Mol Sci. 2022 Apr 20;23(9):4532. doi: 10.3390/ijms23094532. Int J Mol Sci. 2022. PMID: 35562925 Free PMC article.
In rare variant analyses, we identified 32 autosomal-recessive genes with significantly different frequencies of pathogenic alleles in the Polish population as compared to the non-Finish Europeans, including C2, TGM5, NUP93, C19orf12, and PROP1. The allele frequencies for …
In rare variant analyses, we identified 32 autosomal-recessive genes with significantly different frequencies of pathogenic alleles in the P …
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Almatrafi AM, Hibshi AM, Basit S. Almatrafi AM, et al. Medicina (Kaunas). 2023 Feb 27;59(3):474. doi: 10.3390/medicina59030474. Medicina (Kaunas). 2023. PMID: 36984475 Free PMC article.
Among these genes, paired-like homeobox 1 (PROP1) has been reported to be the most common cause of CPHD. Materials and Methods: In the present study, we investigated a large family of Saudi origin with three adult sisters suffering from short stature in combination of seco …
Among these genes, paired-like homeobox 1 (PROP1) has been reported to be the most common cause of CPHD. Materials and Methods: In th …
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B, Zemojtel T, Kaluzna M, Gut P, Niedziela M, Obara-Moszynska M, Rabska-Pietrzak B, Karmelita-Katulska K, Stajgis M, Ambroziak U, Bednarczuk T, Wrotkowska E, Bukowska-Olech E, Jamsheer A, Ruchala M, Ziemnicka K. Budny B, et al. Front Endocrinol (Lausanne). 2020 Jun 16;11:368. doi: 10.3389/fendo.2020.00368. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32612575 Free PMC article.
Results: In nine of the familial cases and 32 of the sporadic patients mutations in the PROP1 gene were found (the common pathogenic variants included c.301_302delAG and c.150delA). ...Several suspected novel but predicted benign variants were also identified for the CHD7, …
Results: In nine of the familial cases and 32 of the sporadic patients mutations in the PROP1 gene were found (the common pathogenic …
Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events.
Diwaker C, Thadani P, Memon SS, Sarathi V, Lila AR, Arya S, Krishnappa B, Karlekar M, Patil VA, Shah N, Bandgar T. Diwaker C, et al. Pituitary. 2022 Aug;25(4):645-652. doi: 10.1007/s11102-022-01243-x. Epub 2022 Jun 24. Pituitary. 2022. PMID: 35749012
METHODS: Among 179 GHD patients, 56 PSIS and 70 genetically positive GHD (52-GHRHR, 15-POU1F1, and 3-PROP1) patients were included. Perinatal events, clinical anomalies, pituitary hormone deficiency, and imaging findings were recorded. ...Breech presentation was higher in …
METHODS: Among 179 GHD patients, 56 PSIS and 70 genetically positive GHD (52-GHRHR, 15-POU1F1, and 3-PROP1) patients were included. P …
22 results