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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 4 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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5 results
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Page 1
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
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.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT.
Akin L, et al.
Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906446
Free PMC article.
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A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene; Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT.
Whittaker DE, et al.
J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587.
J Clin Invest. 2021.
PMID: 34730112
Free PMC article.
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The phenotypic spectrum associated with OTX2 mutations in humans.
Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT.
Gregory LC, et al.
Eur J Endocrinol. 2021 May 25;185(1):121-135. doi: 10.1530/EJE-20-1453.
Eur J Endocrinol. 2021.
PMID: 33950863
Free PMC article.
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Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V, Casado P, Blackburn J, Abollo-Jimenez F, Marinelli E, Besser REJ, Högler W, Karen Temple I, Davies JH, Gagunashvili A, Robinson ICAF, Camper SA, Davis SW, Cutillas PR, Gevers EF, Aoki Y, Dattani MT, Gaston-Massuet C.
Gualtieri A, et al.
Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4.
Nat Commun. 2021.
PMID: 33795686
Free PMC article.
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